dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1260326
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:27508073 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- T>C / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.413253 (148338/358952, ALFA)T=0.325645 (86195/264690, TOPMED)T=0.326470 (45696/139970, GnomAD) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- GCKR : Missense Variant
- Publications
- 220 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 375314 | T=0.409271 | C=0.590729 |
| European | Sub | 314784 | T=0.424227 | C=0.575773 |
| African | Sub | 16106 | T=0.14858 | C=0.85142 |
| African Others | Sub | 592 | T=0.103 | C=0.897 |
| African American | Sub | 15514 | T=0.15032 | C=0.84968 |
| Asian | Sub | 6866 | T=0.5216 | C=0.4784 |
| East Asian | Sub | 4902 | T=0.5430 | C=0.4570 |
| Other Asian | Sub | 1964 | T=0.4679 | C=0.5321 |
| Latin American 1 | Sub | 1488 | T=0.3427 | C=0.6573 |
| Latin American 2 | Sub | 7218 | T=0.3350 | C=0.6650 |
| South Asian | Sub | 5218 | T=0.2547 | C=0.7453 |
| Other | Sub | 23634 | T=0.41610 | C=0.58390 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 358952 | T=0.413253 | C=0.586747 |
| Allele Frequency Aggregator | European | Sub | 304704 | T=0.424816 | C=0.575184 |
| Allele Frequency Aggregator | Other | Sub | 22190 | T=0.41965 | C=0.58035 |
| Allele Frequency Aggregator | African | Sub | 11268 | T=0.15486 | C=0.84514 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7218 | T=0.3350 | C=0.6650 |
| Allele Frequency Aggregator | Asian | Sub | 6866 | T=0.5216 | C=0.4784 |
| Allele Frequency Aggregator | South Asian | Sub | 5218 | T=0.2547 | C=0.7453 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1488 | T=0.3427 | C=0.6573 |
| TopMed | Global | Study-wide | 264690 | T=0.325645 | C=0.674355 |
| gnomAD - Genomes | Global | Study-wide | 139970 | T=0.326470 | C=0.673530 |
| gnomAD - Genomes | European | Sub | 75822 | T=0.40089 | C=0.59911 |
| gnomAD - Genomes | African | Sub | 41954 | T=0.14404 | C=0.85596 |
| gnomAD - Genomes | American | Sub | 13614 | T=0.37799 | C=0.62201 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | T=0.5419 | C=0.4581 |
| gnomAD - Genomes | East Asian | Sub | 3114 | T=0.5016 | C=0.4984 |
| gnomAD - Genomes | Other | Sub | 2148 | T=0.3496 | C=0.6504 |
| ExAC | Global | Study-wide | 121246 | T=0.357150 | C=0.642850 |
| ExAC | Europe | Sub | 73254 | T=0.40488 | C=0.59512 |
| ExAC | Asian | Sub | 25132 | T=0.32679 | C=0.67321 |
| ExAC | American | Sub | 11552 | T=0.32142 | C=0.67858 |
| ExAC | African | Sub | 10402 | T=0.13536 | C=0.86464 |
| ExAC | Other | Sub | 906 | T=0.342 | C=0.658 |
| The PAGE Study | Global | Study-wide | 78692 | T=0.27792 | C=0.72208 |
| The PAGE Study | AfricanAmerican | Sub | 32508 | T=0.15006 | C=0.84994 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.33913 | C=0.66087 |
| The PAGE Study | Asian | Sub | 8318 | T=0.5329 | C=0.4671 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.2999 | C=0.7001 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | T=0.3570 | C=0.6430 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.4095 | C=0.5905 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.2926 | C=0.7074 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.3180 | C=0.6820 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.3350 | C=0.6650 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.3198 | C=0.6802 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.236 | C=0.764 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.56547 | C=0.43453 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.56229 | C=0.43771 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | T=0.32408 | C=0.67592 |
| GO Exome Sequencing Project | European American | Sub | 8600 | T=0.4169 | C=0.5831 |
| GO Exome Sequencing Project | African American | Sub | 4406 | T=0.1430 | C=0.8570 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.2870 | C=0.7130 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.0929 | C=0.9071 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.4139 | C=0.5861 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.2022 | C=0.7978 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.4812 | C=0.5188 |
| 1000Genomes_30x | American | Sub | 980 | T=0.349 | C=0.651 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.2933 | C=0.7067 |
| 1000Genomes | African | Sub | 1322 | T=0.0938 | C=0.9062 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.4812 | C=0.5188 |
| 1000Genomes | Europe | Sub | 1006 | T=0.4105 | C=0.5895 |
| 1000Genomes | South Asian | Sub | 978 | T=0.200 | C=0.800 |
| 1000Genomes | American | Sub | 694 | T=0.362 | C=0.638 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.3741 | C=0.6259 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.4058 | C=0.5942 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.3997 | C=0.6003 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.5420 | C=0.4580, G=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2080 | T=0.3399 | C=0.6601 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 466 | T=0.455 | C=0.545 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.302 | C=0.698 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | T=0.503 | C=0.497 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.434 | C=0.566 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | T=0.062 | C=0.938 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.176 | C=0.824 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | T=0.03 | C=0.97 |
| HapMap | Global | Study-wide | 1878 | T=0.3152 | C=0.6848 |
| HapMap | American | Sub | 766 | T=0.347 | C=0.653 |
| HapMap | African | Sub | 682 | T=0.116 | C=0.884 |
| HapMap | Asian | Sub | 254 | T=0.606 | C=0.394 |
| HapMap | Europe | Sub | 176 | T=0.528 | C=0.472 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1088 | T=0.3805 | C=0.6195 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 608 | T=0.398 | C=0.602 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | T=0.431 | C=0.569 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | T=0.361 | C=0.639 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 106 | T=0.368 | C=0.632 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 72 | T=0.15 | C=0.85 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | T=0.44 | C=0.56 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.360 | C=0.640 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | T=0.544 | C=0.456 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | T=0.544 | C=0.456 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.288 | C=0.712 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.418 | C=0.582 |
| SGDP_PRJ | Global | Study-wide | 478 | T=0.238 | C=0.762 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | T=0.391 | C=0.609 |
| Qatari | Global | Study-wide | 216 | T=0.412 | C=0.588 |
| Siberian | Global | Study-wide | 50 | T=0.26 | C=0.74 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 42 | T=0.43 | C=0.57 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.40 | C=0.60 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.27508073T>C |
| GRCh38.p14 chr 2 | NC_000002.12:g.27508073T>G |
| GRCh37.p13 chr 2 | NC_000002.11:g.27730940T>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.27730940T>G |
| GCKR RefSeqGene | NG_028024.1:g.16235T>C |
| GCKR RefSeqGene | NG_028024.1:g.16235T>G |
Gene: GCKR, glucokinase regulator
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| GCKR transcript | NM_001486.4:c.1337T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| glucokinase regulatory protein | NP_001477.2:p.Leu446Pro | L (Leu) > P (Pro) | Missense Variant |
| GCKR transcript | NM_001486.4:c.1337T>G | L [CTG] > R [CGG] | Coding Sequence Variant |
| glucokinase regulatory protein | NP_001477.2:p.Leu446Arg | L (Leu) > R (Arg) | Missense Variant |
| GCKR transcript variant X4 | XM_011532763.1:c. | N/A | Genic Downstream Transcript Variant |
| GCKR transcript variant X1 | XM_017003796.2:c.767T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| glucokinase regulatory protein isoform X1 | XP_016859285.1:p.Leu256Pro | L (Leu) > P (Pro) | Missense Variant |
| GCKR transcript variant X1 | XM_017003796.2:c.767T>G | L [CTG] > R [CGG] | Coding Sequence Variant |
| glucokinase regulatory protein isoform X1 | XP_016859285.1:p.Leu256Arg | L (Leu) > R (Arg) | Missense Variant |
| GCKR transcript variant X2 | XM_017003797.2:c.767T>C | L [CTG] > P [CCG] | Coding Sequence Variant |
| glucokinase regulatory protein isoform X1 | XP_016859286.1:p.Leu256Pro | L (Leu) > P (Pro) | Missense Variant |
| GCKR transcript variant X2 | XM_017003797.2:c.767T>G | L [CTG] > R [CGG] | Coding Sequence Variant |
| glucokinase regulatory protein isoform X1 | XP_016859286.1:p.Leu256Arg | L (Leu) > R (Arg) | Missense Variant |
| GCKR transcript variant X3 | XR_001738699.1:n. | N/A | Genic Downstream Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: C (allele ID:
23790
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000009294.2 | Fasting plasma glucose level quantitative trait locus 5 | Association |
| RCV001618209.6 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | T= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.27508073= | NC_000002.12:g.27508073T>C | NC_000002.12:g.27508073T>G |
| GRCh37.p13 chr 2 | NC_000002.11:g.27730940= | NC_000002.11:g.27730940T>C | NC_000002.11:g.27730940T>G |
| GCKR RefSeqGene | NG_028024.1:g.16235= | NG_028024.1:g.16235T>C | NG_028024.1:g.16235T>G |
| GCKR transcript | NM_001486.4:c.1337= | NM_001486.4:c.1337T>C | NM_001486.4:c.1337T>G |
| GCKR transcript | NM_001486.3:c.1337= | NM_001486.3:c.1337T>C | NM_001486.3:c.1337T>G |
| GCKR transcript variant X1 | XM_017003796.2:c.767= | XM_017003796.2:c.767T>C | XM_017003796.2:c.767T>G |
| GCKR transcript variant X1 | XM_017003796.1:c.767= | XM_017003796.1:c.767T>C | XM_017003796.1:c.767T>G |
| GCKR transcript variant X2 | XM_017003797.2:c.767= | XM_017003797.2:c.767T>C | XM_017003797.2:c.767T>G |
| GCKR transcript variant X2 | XM_017003797.1:c.767= | XM_017003797.1:c.767T>C | XM_017003797.1:c.767T>G |
| glucokinase regulatory protein | NP_001477.2:p.Leu446= | NP_001477.2:p.Leu446Pro | NP_001477.2:p.Leu446Arg |
| glucokinase regulatory protein isoform X1 | XP_016859285.1:p.Leu256= | XP_016859285.1:p.Leu256Pro | XP_016859285.1:p.Leu256Arg |
| glucokinase regulatory protein isoform X1 | XP_016859286.1:p.Leu256= | XP_016859286.1:p.Leu256Pro | XP_016859286.1:p.Leu256Arg |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
201 SubSNP,
29 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss1932517 | Oct 18, 2000 (87) |
| 2 | SC_JCM | ss2468242 | Nov 08, 2000 (89) |
| 3 | YUSUKE | ss3236651 | Sep 28, 2001 (100) |
| 4 | WI_SSAHASNP | ss11466788 | Jul 11, 2003 (116) |
| 5 | EGP_SNPS | ss12568673 | Aug 26, 2003 (117) |
| 6 | WUGSC_SSAHASNP | ss14499079 | Dec 05, 2003 (119) |
| 7 | CSHL-HAPMAP | ss16855742 | Feb 27, 2004 (120) |
| 8 | PERLEGEN | ss24292559 | Sep 20, 2004 (123) |
| 9 | ABI | ss44327089 | Mar 13, 2006 (126) |
| 10 | IMCJ-GDT | ss46563928 | Mar 13, 2006 (126) |
| 11 | ILLUMINA | ss65730634 | Oct 13, 2006 (127) |
| 12 | ILLUMINA | ss66637290 | Nov 29, 2006 (127) |
| 13 | EGP_SNPS | ss66860378 | Nov 29, 2006 (127) |
| 14 | ILLUMINA | ss67024271 | Nov 29, 2006 (127) |
| 15 | ILLUMINA | ss67346198 | Nov 29, 2006 (127) |
| 16 | CSHL-HAPMAP | ss68385447 | Jan 12, 2007 (127) |
| 17 | ILLUMINA | ss70413024 | May 16, 2007 (127) |
| 18 | ILLUMINA | ss70577089 | May 24, 2008 (130) |
| 19 | ILLUMINA | ss71118717 | May 16, 2007 (127) |
| 20 | ILLUMINA | ss75514433 | Dec 06, 2007 (129) |
| 21 | SI_EXO | ss76896911 | Dec 06, 2007 (129) |
| 22 | HGSV | ss78913005 | Dec 06, 2007 (129) |
| 23 | KRIBB_YJKIM | ss83708414 | Dec 15, 2007 (130) |
| 24 | CORNELL | ss86270068 | Mar 23, 2008 (129) |
| 25 | BCMHGSC_JDW | ss91096564 | Mar 24, 2008 (129) |
| 26 | BGI | ss106077047 | Feb 04, 2009 (130) |
| 27 | 1000GENOMES | ss109344687 | Jan 24, 2009 (130) |
| 28 | 1000GENOMES | ss109988645 | Jan 24, 2009 (130) |
| 29 | ILLUMINA-UK | ss117633177 | Feb 14, 2009 (130) |
| 30 | ILLUMINA | ss121584068 | Dec 01, 2009 (131) |
| 31 | ENSEMBL | ss138409896 | Dec 01, 2009 (131) |
| 32 | ILLUMINA | ss153244239 | Dec 01, 2009 (131) |
| 33 | GMI | ss156831921 | Dec 01, 2009 (131) |
| 34 | ILLUMINA | ss159226563 | Dec 01, 2009 (131) |
| 35 | SEATTLESEQ | ss159701659 | Dec 01, 2009 (131) |
| 36 | ILLUMINA | ss160286608 | Dec 01, 2009 (131) |
| 37 | ENSEMBL | ss161254921 | Dec 01, 2009 (131) |
| 38 | COMPLETE_GENOMICS | ss163221735 | Jul 04, 2010 (132) |
| 39 | COMPLETE_GENOMICS | ss164049782 | Jul 04, 2010 (132) |
| 40 | COMPLETE_GENOMICS | ss166319498 | Jul 04, 2010 (132) |
| 41 | ILLUMINA | ss170177969 | Jul 04, 2010 (132) |
| 42 | ILLUMINA | ss172179691 | Jul 04, 2010 (132) |
| 43 | PAGE_STUDY | ss181341918 | Jul 04, 2010 (132) |
| 44 | PAGE_STUDY | ss181835886 | Jul 04, 2010 (132) |
| 45 | BUSHMAN | ss200192809 | Jul 04, 2010 (132) |
| 46 | BCM-HGSC-SUB | ss205797760 | Jul 04, 2010 (132) |
| 47 | 1000GENOMES | ss219134011 | Jul 14, 2010 (132) |
| 48 | 1000GENOMES | ss231086312 | Jul 14, 2010 (132) |
| 49 | 1000GENOMES | ss238660093 | Jul 15, 2010 (132) |
| 50 | ILLUMINA | ss244276968 | Jul 04, 2010 (132) |
| 51 | BL | ss252989606 | May 09, 2011 (134) |
| 52 | GMI | ss276394977 | May 04, 2012 (137) |
| 53 | GMI | ss284312637 | Apr 25, 2013 (138) |
| 54 | PJP | ss292532129 | May 09, 2011 (134) |
| 55 | NHLBI-ESP | ss342051875 | May 09, 2011 (134) |
| 56 | ILLUMINA | ss410838570 | Sep 17, 2011 (135) |
| 57 | ILLUMINA | ss410900962 | Sep 17, 2011 (135) |
| 58 | PAGE_STUDY | ss469414642 | May 04, 2012 (137) |
| 59 | ILLUMINA | ss479783518 | May 04, 2012 (137) |
| 60 | ILLUMINA | ss479789983 | May 04, 2012 (137) |
| 61 | ILLUMINA | ss480363222 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss484690174 | May 04, 2012 (137) |
| 63 | 1000GENOMES | ss489808833 | May 04, 2012 (137) |
| 64 | EXOME_CHIP | ss491316760 | May 04, 2012 (137) |
| 65 | CLINSEQ_SNP | ss491780659 | May 04, 2012 (137) |
| 66 | ILLUMINA | ss536799144 | Sep 08, 2015 (146) |
| 67 | NCBI-CURATED-RECORDS | ss537713215 | Jan 04, 2013 (137) |
| 68 | TISHKOFF | ss555433082 | Apr 25, 2013 (138) |
| 69 | SSMP | ss649013419 | Apr 25, 2013 (138) |
| 70 | ILLUMINA | ss778786328 | Aug 21, 2014 (142) |
| 71 | ILLUMINA | ss780774062 | Aug 21, 2014 (142) |
| 72 | ILLUMINA | ss782791873 | Aug 21, 2014 (142) |
| 73 | ILLUMINA | ss783453884 | Aug 21, 2014 (142) |
| 74 | ILLUMINA | ss783757564 | Aug 21, 2014 (142) |
| 75 | ILLUMINA | ss825382298 | Apr 01, 2015 (144) |
| 76 | ILLUMINA | ss832044645 | Apr 01, 2015 (144) |
| 77 | ILLUMINA | ss832738928 | Aug 21, 2014 (142) |
| 78 | ILLUMINA | ss833329758 | Aug 21, 2014 (142) |
| 79 | ILLUMINA | ss834246327 | Aug 21, 2014 (142) |
| 80 | JMKIDD_LAB | ss974441568 | Aug 21, 2014 (142) |
| 81 | EVA-GONL | ss976615197 | Aug 21, 2014 (142) |
| 82 | JMKIDD_LAB | ss1067435927 | Aug 21, 2014 (142) |
| 83 | JMKIDD_LAB | ss1068952935 | Aug 21, 2014 (142) |
| 84 | 1000GENOMES | ss1296398597 | Aug 21, 2014 (142) |
| 85 | HAMMER_LAB | ss1397285915 | Sep 08, 2015 (146) |
| 86 | DDI | ss1428514612 | Apr 01, 2015 (144) |
| 87 | EVA_GENOME_DK | ss1578790741 | Apr 01, 2015 (144) |
| 88 | EVA_FINRISK | ss1584017614 | Apr 01, 2015 (144) |
| 89 | EVA_DECODE | ss1586019868 | Apr 01, 2015 (144) |
| 90 | EVA_UK10K_ALSPAC | ss1603069414 | Apr 01, 2015 (144) |
| 91 | EVA_UK10K_TWINSUK | ss1646063447 | Apr 01, 2015 (144) |
| 92 | EVA_EXAC | ss1686236623 | Apr 01, 2015 (144) |
| 93 | EVA_MGP | ss1710957684 | Apr 01, 2015 (144) |
| 94 | EVA_SVP | ss1712440202 | Apr 01, 2015 (144) |
| 95 | ILLUMINA | ss1752350621 | Sep 08, 2015 (146) |
| 96 | ILLUMINA | ss1752350622 | Sep 08, 2015 (146) |
| 97 | HAMMER_LAB | ss1796455007 | Sep 08, 2015 (146) |
| 98 | ILLUMINA | ss1917747314 | Feb 12, 2016 (147) |
| 99 | WEILL_CORNELL_DGM | ss1919847411 | Feb 12, 2016 (147) |
| 100 | ILLUMINA | ss1946035447 | Feb 12, 2016 (147) |
| 101 | ILLUMINA | ss1958400197 | Feb 12, 2016 (147) |
| 102 | GENOMED | ss1968721998 | Jul 19, 2016 (147) |
| 103 | JJLAB | ss2020452164 | Sep 14, 2016 (149) |
| 104 | ILLUMINA | ss2094805766 | Dec 20, 2016 (150) |
| 105 | ILLUMINA | ss2095088866 | Dec 20, 2016 (150) |
| 106 | USC_VALOUEV | ss2148496664 | Dec 20, 2016 (150) |
| 107 | HUMAN_LONGEVITY | ss2228532673 | Dec 20, 2016 (150) |
| 108 | SYSTEMSBIOZJU | ss2624741546 | Nov 08, 2017 (151) |
| 109 | ILLUMINA | ss2633587591 | Nov 08, 2017 (151) |
| 110 | ILLUMINA | ss2633587592 | Nov 08, 2017 (151) |
| 111 | ILLUMINA | ss2633587593 | Nov 08, 2017 (151) |
| 112 | ILLUMINA | ss2635087329 | Nov 08, 2017 (151) |
| 113 | GRF | ss2703057710 | Nov 08, 2017 (151) |
| 114 | GNOMAD | ss2732555293 | Nov 08, 2017 (151) |
| 115 | GNOMAD | ss2746647471 | Nov 08, 2017 (151) |
| 116 | GNOMAD | ss2771106718 | Nov 08, 2017 (151) |
| 117 | AFFY | ss2985162602 | Nov 08, 2017 (151) |
| 118 | AFFY | ss2985786859 | Nov 08, 2017 (151) |
| 119 | SWEGEN | ss2989173652 | Nov 08, 2017 (151) |
| 120 | EVA_SAMSUNG_MC | ss3023058027 | Nov 08, 2017 (151) |
| 121 | BIOINF_KMB_FNS_UNIBA | ss3023992397 | Nov 08, 2017 (151) |
| 122 | CSHL | ss3344130407 | Nov 08, 2017 (151) |
| 123 | ILLUMINA | ss3628018928 | Oct 11, 2018 (152) |
| 124 | ILLUMINA | ss3628018929 | Oct 11, 2018 (152) |
| 125 | ILLUMINA | ss3631556097 | Oct 11, 2018 (152) |
| 126 | ILLUMINA | ss3633192941 | Oct 11, 2018 (152) |
| 127 | ILLUMINA | ss3633904277 | Oct 11, 2018 (152) |
| 128 | ILLUMINA | ss3634756897 | Oct 11, 2018 (152) |
| 129 | ILLUMINA | ss3634756898 | Oct 11, 2018 (152) |
| 130 | ILLUMINA | ss3635590721 | Oct 11, 2018 (152) |
| 131 | ILLUMINA | ss3636442741 | Oct 11, 2018 (152) |
| 132 | ILLUMINA | ss3637342551 | Oct 11, 2018 (152) |
| 133 | ILLUMINA | ss3638248935 | Oct 11, 2018 (152) |
| 134 | ILLUMINA | ss3639129166 | Oct 11, 2018 (152) |
| 135 | ILLUMINA | ss3639576037 | Oct 11, 2018 (152) |
| 136 | ILLUMINA | ss3640464201 | Oct 11, 2018 (152) |
| 137 | ILLUMINA | ss3640464202 | Oct 11, 2018 (152) |
| 138 | ILLUMINA | ss3641102994 | Oct 11, 2018 (152) |
| 139 | ILLUMINA | ss3641398755 | Oct 11, 2018 (152) |
| 140 | ILLUMINA | ss3643219914 | Oct 11, 2018 (152) |
| 141 | ILLUMINA | ss3644738144 | Oct 11, 2018 (152) |
| 142 | OMUKHERJEE_ADBS | ss3646259363 | Oct 11, 2018 (152) |
| 143 | ILLUMINA | ss3652381906 | Oct 11, 2018 (152) |
| 144 | ILLUMINA | ss3653933329 | Oct 11, 2018 (152) |
| 145 | EGCUT_WGS | ss3657128246 | Jul 13, 2019 (153) |
| 146 | EVA_DECODE | ss3703490572 | Jul 13, 2019 (153) |
| 147 | ACPOP | ss3728257308 | Jul 13, 2019 (153) |
| 148 | ILLUMINA | ss3744473059 | Jul 13, 2019 (153) |
| 149 | ILLUMINA | ss3745056848 | Jul 13, 2019 (153) |
| 150 | ILLUMINA | ss3745056849 | Jul 13, 2019 (153) |
| 151 | EVA | ss3756504519 | Jul 13, 2019 (153) |
| 152 | PAGE_CC | ss3770905135 | Jul 13, 2019 (153) |
| 153 | ILLUMINA | ss3772553727 | Jul 13, 2019 (153) |
| 154 | ILLUMINA | ss3772553728 | Jul 13, 2019 (153) |
| 155 | KHV_HUMAN_GENOMES | ss3800885076 | Jul 13, 2019 (153) |
| 156 | EVA | ss3823754408 | Apr 25, 2020 (154) |
| 157 | EVA | ss3825519358 | Apr 25, 2020 (154) |
| 158 | EVA | ss3825536220 | Apr 25, 2020 (154) |
| 159 | EVA | ss3825596977 | Apr 25, 2020 (154) |
| 160 | EVA | ss3826880711 | Apr 25, 2020 (154) |
| 161 | EVA | ss3836847579 | Apr 25, 2020 (154) |
| 162 | EVA | ss3842262174 | Apr 25, 2020 (154) |
| 163 | HGDP | ss3847610596 | Apr 25, 2020 (154) |
| 164 | SGDP_PRJ | ss3851844688 | Apr 25, 2020 (154) |
| 165 | KRGDB | ss3897258298 | Apr 25, 2020 (154) |
| 166 | FSA-LAB | ss3984171609 | Apr 26, 2021 (155) |
| 167 | FSA-LAB | ss3984171610 | Apr 26, 2021 (155) |
| 168 | EVA | ss3984479371 | Apr 26, 2021 (155) |
| 169 | EVA | ss3984880684 | Apr 26, 2021 (155) |
| 170 | EVA | ss3986017075 | Apr 26, 2021 (155) |
| 171 | EVA | ss3986174825 | Apr 26, 2021 (155) |
| 172 | EVA | ss4016985813 | Apr 26, 2021 (155) |
| 173 | TOPMED | ss4498395060 | Apr 26, 2021 (155) |
| 174 | TOMMO_GENOMICS | ss5150422010 | Apr 26, 2021 (155) |
| 175 | EVA | ss5236969183 | Apr 26, 2021 (155) |
| 176 | EVA | ss5237168641 | Apr 26, 2021 (155) |
| 177 | EVA | ss5237635362 | Oct 17, 2022 (156) |
| 178 | 1000G_HIGH_COVERAGE | ss5247340340 | Oct 17, 2022 (156) |
| 179 | TRAN_CS_UWATERLOO | ss5314400698 | Oct 17, 2022 (156) |
| 180 | EVA | ss5314719247 | Oct 17, 2022 (156) |
| 181 | EVA | ss5327598422 | Oct 17, 2022 (156) |
| 182 | HUGCELL_USP | ss5447609609 | Oct 17, 2022 (156) |
| 183 | EVA | ss5506333030 | Oct 17, 2022 (156) |
| 184 | 1000G_HIGH_COVERAGE | ss5522181031 | Oct 17, 2022 (156) |
| 185 | EVA | ss5623920062 | Oct 17, 2022 (156) |
| 186 | EVA | ss5624097813 | Oct 17, 2022 (156) |
| 187 | SANFORD_IMAGENETICS | ss5624439762 | Oct 17, 2022 (156) |
| 188 | SANFORD_IMAGENETICS | ss5628333892 | Oct 17, 2022 (156) |
| 189 | TOMMO_GENOMICS | ss5678774443 | Oct 17, 2022 (156) |
| 190 | EVA | ss5799525651 | Oct 17, 2022 (156) |
| 191 | EVA | ss5800048341 | Oct 17, 2022 (156) |
| 192 | EVA | ss5800093379 | Oct 17, 2022 (156) |
| 193 | YY_MCH | ss5802029376 | Oct 17, 2022 (156) |
| 194 | EVA | ss5819820236 | Oct 17, 2022 (156) |
| 195 | EVA | ss5847860695 | Oct 17, 2022 (156) |
| 196 | EVA | ss5848510410 | Oct 17, 2022 (156) |
| 197 | EVA | ss5852439842 | Oct 17, 2022 (156) |
| 198 | EVA | ss5929521781 | Oct 17, 2022 (156) |
| 199 | EVA | ss5936515403 | Oct 17, 2022 (156) |
| 200 | EVA | ss5954536070 | Oct 17, 2022 (156) |
| 201 | EVA | ss5981203702 | Oct 17, 2022 (156) |
| 202 | 1000Genomes | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 203 | 1000Genomes_30x | NC_000002.12 - 27508073 | Oct 17, 2022 (156) |
| 204 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 205 | Genome-wide autozygosity in Daghestan | NC_000002.10 - 27584444 | Apr 25, 2020 (154) |
| 206 | Genetic variation in the Estonian population | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 207 | ExAC | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 208 | FINRISK | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 209 | The Danish reference pan genome | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 210 | gnomAD - Genomes | NC_000002.12 - 27508073 | Apr 26, 2021 (155) |
| 211 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 212 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 213 | GO Exome Sequencing Project | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 214 | Genome of the Netherlands Release 5 | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 215 | HGDP-CEPH-db Supplement 1 | NC_000002.10 - 27584444 | Apr 25, 2020 (154) |
| 216 | HapMap | NC_000002.12 - 27508073 | Apr 25, 2020 (154) |
| 217 | KOREAN population from KRGDB | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 218 | Medical Genome Project healthy controls from Spanish population | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 219 | Northern Sweden | NC_000002.11 - 27730940 | Jul 13, 2019 (153) |
| 220 | The PAGE Study | NC_000002.12 - 27508073 | Jul 13, 2019 (153) |
| 221 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000002.11 - 27730940 | Apr 26, 2021 (155) |
| 222 | CNV burdens in cranial meningiomas | NC_000002.11 - 27730940 | Apr 26, 2021 (155) |
| 223 | Qatari | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 224 | SGDP_PRJ | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 225 | Siberian | NC_000002.11 - 27730940 | Apr 25, 2020 (154) |
| 226 | 8.3KJPN | NC_000002.11 - 27730940 | Apr 26, 2021 (155) |
| 227 | 14KJPN | NC_000002.12 - 27508073 | Oct 17, 2022 (156) |
| 228 | TopMed | NC_000002.12 - 27508073 | Apr 26, 2021 (155) |
| 229 | UK 10K study - Twins | NC_000002.11 - 27730940 | Oct 11, 2018 (152) |
| 230 | ALFA | NC_000002.12 - 27508073 | Apr 26, 2021 (155) |
| 231 | ClinVar | RCV000009294.2 | Oct 11, 2018 (152) |
| 232 | ClinVar | RCV001618209.6 | Oct 17, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17705011 | Oct 08, 2004 (123) |
| rs58226775 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss78913005, ss3639129166, ss3639576037 | NC_000002.9:27642590:T:C | NC_000002.12:27508072:T:C | (self) |
| 236091, 288488, ss91096564, ss109344687, ss109988645, ss117633177, ss160286608, ss163221735, ss164049782, ss166319498, ss200192809, ss205797760, ss244276968, ss252989606, ss276394977, ss284312637, ss292532129, ss410900962, ss479783518, ss491780659, ss825382298, ss1397285915, ss1586019868, ss1712440202, ss2635087329, ss3643219914, ss3847610596 | NC_000002.10:27584443:T:C | NC_000002.12:27508072:T:C | (self) |
| 7317036, 4061509, 2866494, 6101203, 14075, 4966774, 212888, 1784411, 4435692, 74436, 1542173, 106611, 28697, 1889341, 3861668, 1013018, 8391317, 4061509, ss219134011, ss231086312, ss238660093, ss342051875, ss479789983, ss480363222, ss484690174, ss489808833, ss491316760, ss536799144, ss555433082, ss649013419, ss778786328, ss780774062, ss782791873, ss783453884, ss783757564, ss832044645, ss832738928, ss833329758, ss834246327, ss974441568, ss976615197, ss1067435927, ss1068952935, ss1296398597, ss1428514612, ss1578790741, ss1584017614, ss1603069414, ss1646063447, ss1686236623, ss1710957684, ss1752350621, ss1752350622, ss1796455007, ss1917747314, ss1919847411, ss1946035447, ss1958400197, ss1968721998, ss2020452164, ss2094805766, ss2095088866, ss2148496664, ss2624741546, ss2633587591, ss2633587592, ss2633587593, ss2703057710, ss2732555293, ss2746647471, ss2771106718, ss2985162602, ss2985786859, ss2989173652, ss3023058027, ss3344130407, ss3628018928, ss3628018929, ss3631556097, ss3633192941, ss3633904277, ss3634756897, ss3634756898, ss3635590721, ss3636442741, ss3637342551, ss3638248935, ss3640464201, ss3640464202, ss3641102994, ss3641398755, ss3644738144, ss3646259363, ss3652381906, ss3653933329, ss3657128246, ss3728257308, ss3744473059, ss3745056848, ss3745056849, ss3756504519, ss3772553727, ss3772553728, ss3823754408, ss3825519358, ss3825536220, ss3825596977, ss3826880711, ss3836847579, ss3851844688, ss3897258298, ss3984171609, ss3984171610, ss3984479371, ss3984880684, ss3986017075, ss3986174825, ss4016985813, ss5150422010, ss5314719247, ss5327598422, ss5506333030, ss5623920062, ss5624097813, ss5624439762, ss5628333892, ss5799525651, ss5800048341, ss5800093379, ss5819820236, ss5847860695, ss5848510410, ss5936515403, ss5954536070, ss5981203702 | NC_000002.11:27730939:T:C | NC_000002.12:27508072:T:C | (self) |
| RCV000009294.2, RCV001618209.6, 9706966, 51992979, 1758633, 126604, 12611547, 302217939, 1299590210, ss537713215, ss2228532673, ss3023992397, ss3703490572, ss3770905135, ss3800885076, ss3842262174, ss4498395060, ss5236969183, ss5237168641, ss5237635362, ss5247340340, ss5314400698, ss5447609609, ss5522181031, ss5678774443, ss5802029376, ss5852439842, ss5929521781 | NC_000002.12:27508072:T:C | NC_000002.12:27508072:T:C | (self) |
| ss11466788 | NT_022184.12:6546872:T:C | NC_000002.12:27508072:T:C | (self) |
| ss14499079, ss16855742 | NT_022184.13:6546872:T:C | NC_000002.12:27508072:T:C | (self) |
| ss76896911 | NT_022184.14:6546872:T:C | NC_000002.12:27508072:T:C | (self) |
| ss1932517, ss2468242, ss3236651, ss12568673, ss24292559, ss44327089, ss46563928, ss65730634, ss66637290, ss66860378, ss67024271, ss67346198, ss68385447, ss70413024, ss70577089, ss71118717, ss75514433, ss83708414, ss86270068, ss106077047, ss121584068, ss138409896, ss153244239, ss156831921, ss159226563, ss159701659, ss161254921, ss170177969, ss172179691, ss181341918, ss181835886, ss410838570, ss469414642 | NT_022184.15:6552826:T:C | NC_000002.12:27508072:T:C | (self) |
| 4435692, ss3897258298 | NC_000002.11:27730939:T:G | NC_000002.12:27508072:T:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
220
citations for rs1260326
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18439548 | Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. | Ridker PM et al. | 2008 | American journal of human genetics |
| 18439552 | Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. | Reiner AP et al. | 2008 | American journal of human genetics |
| 18556336 | The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. | Vaxillaire M et al. | 2008 | Diabetes |
| 18678614 | Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. | Orho-Melander M et al. | 2008 | Diabetes |
| 18853134 | The search for putative unifying genetic factors for components of the metabolic syndrome. | Sjögren M et al. | 2008 | Diabetologia |
| 19060906 | Common variants at 30 loci contribute to polygenic dyslipidemia. | Kathiresan S et al. | 2009 | Nature genetics |
| 19060910 | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. | Sabatti C et al. | 2009 | Nature genetics |
| 19073768 | Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents. | Tam CH et al. | 2009 | Diabetes |
| 19148283 | Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study. | Deo RC et al. | 2009 | PLoS genetics |
| 19299407 | Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. | Lanktree MB et al. | 2009 | Journal of lipid research |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19526250 | Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study. | Shen H et al. | 2009 | Human genetics |
| 19533084 | Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk. | Reiling E et al. | 2009 | Diabetologia |
| 19643913 | The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver. | Beer NL et al. | 2009 | Human molecular genetics |
| 19651812 | Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians. | Chambers JC et al. | 2009 | Diabetes |
| 19656773 | A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. | Hegele RA et al. | 2009 | Human molecular genetics |
| 19729614 | Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. | Musunuru K et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
| 19802338 | Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. | Chasman DI et al. | 2008 | Circulation. Cardiovascular genetics |
| 19847674 | Functional variants of glucokinase regulatory protein and apolipoprotein A5 genes in ischemic stroke. | Járomi L et al. | 2010 | Journal of molecular neuroscience |
| 19913121 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | Talmud PJ et al. | 2009 | American journal of human genetics |
| 20031591 | Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III. | Keebler ME et al. | 2009 | Circulation. Cardiovascular genetics |
| 20037589 | A genome-wide perspective of genetic variation in human metabolism. | Illig T et al. | 2010 | Nature genetics |
| 20081857 | Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. | Saxena R et al. | 2010 | Nature genetics |
| 20081858 | New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. | Dupuis J et al. | 2010 | Nature genetics |
| 20160193 | Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. | Weissglas-Volkov D et al. | 2010 | Circulation. Cardiovascular genetics |
| 20231535 | Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. | Smith NL et al. | 2010 | Circulation |
| 20339536 | Genome-wide association of lipid-lowering response to statins in combined study populations. | Barber MJ et al. | 2010 | PloS one |
| 20352598 | Glucokinase-activating GCKR polymorphisms increase plasma levels of triglycerides and free fatty acids, but do not elevate cardiovascular risk in the Ludwigshafen Risk and Cardiovascular Health Study. | Kozian DH et al. | 2010 | Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme |
| 20383146 | New loci associated with kidney function and chronic kidney disease. | Köttgen A et al. | 2010 | Nature genetics |
| 20570915 | Genetic determinants of major blood lipids in Pakistanis compared with Europeans. | Saleheen D et al. | 2010 | Circulation. Cardiovascular genetics |
| 20570916 | Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. | Keebler ME et al. | 2010 | Circulation. Cardiovascular genetics |
| 20628598 | Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects. | Tam CH et al. | 2010 | PloS one |
| 20657596 | Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. | Johansen CT et al. | 2010 | Nature genetics |
| 20661421 | Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study. | Bi M et al. | 2010 | PloS one |
| 20802025 | Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. | Tang W et al. | 2010 | Blood |
| 20820957 | The genetics of insulin resistance: Where's Waldo? | Watanabe RM et al. | 2010 | Current diabetes reports |
| 20831840 | Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned. | Maasz A et al. | 2010 | Genome medicine |
| 20839009 | Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. | Gupta R et al. | 2010 | Human genetics |
| 20839289 | Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose. | Rasmussen-Torvik LJ et al. | 2010 | Genetic epidemiology |
| 20844574 | An immune response network associated with blood lipid levels. | Inouye M et al. | 2010 | PLoS genetics |
| 20886378 | Physiologic characterization of type 2 diabetes-related loci. | Grarup N et al. | 2010 | Current diabetes reports |
| 21041806 | Genetic determinants of plasma triglycerides. | Johansen CT et al. | 2011 | Journal of lipid research |
| 21054877 | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. | Ned RM et al. | 2010 | BMC medical genetics |
| 21071687 | TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population. | Varbo A et al. | 2011 | Arteriosclerosis, thrombosis, and vascular biology |
| 21091714 | The genetics of type 2 diabetes: what have we learned from GWAS? | Billings LK et al. | 2010 | Annals of the New York Academy of Sciences |
| 21114848 | GCKR gene functional variants in type 2 diabetes and metabolic syndrome: do the rare variants associate with increased carotid intima-media thickness? | Mohás M et al. | 2010 | Cardiovascular diabetology |
| 21282362 | Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. | De Silva NM et al. | 2011 | Diabetes |
| 21300955 | Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. | Dehghan A et al. | 2011 | Circulation |
| 21386085 | A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. | Kraja AT et al. | 2011 | Diabetes |
| 21411509 | Variants of GCKR affect both β-cell and kidney function in patients with newly diagnosed type 2 diabetes: the Verona newly diagnosed type 2 diabetes study 2. | Bonetti S et al. | 2011 | Diabetes care |
| 21421807 | Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. | Stančáková A et al. | 2011 | Diabetes |
| 21423719 | Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. | Speliotes EK et al. | 2011 | PLoS genetics |
| 21441441 | Associations of common genetic variants with age-related changes in fasting and postload glucose: evidence from 18 years of follow-up of the Whitehall II cohort. | Jensen AC et al. | 2011 | Diabetes |
| 21466885 | Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent. | Shirts BH et al. | 2011 | Atherosclerosis |
| 21467728 | Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. | Wakai K et al. | 2011 | Journal of epidemiology |
| 21527746 | Triglycerides and heart disease: still a hypothesis? | Goldberg IJ et al. | 2011 | Arteriosclerosis, thrombosis, and vascular biology |
| 21569451 | Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study. | Ling Y et al. | 2011 | BMC medical genetics |
| 21597005 | An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia. | Johansen CT et al. | 2011 | Arteriosclerosis, thrombosis, and vascular biology |
| 21602305 | A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort. | Greenawalt DM et al. | 2011 | Genome research |
| 21647738 | Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. | Wu Y et al. | 2012 | Inflammation |
| 21674002 | Glucokinase regulatory protein genetic variant interacts with omega-3 PUFA to influence insulin resistance and inflammation in metabolic syndrome. | Perez-Martinez P et al. | 2011 | PloS one |
| 21676895 | A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium. | Taylor KC et al. | 2011 | Human molecular genetics |
| 21738485 | Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. | Dumitrescu L et al. | 2011 | PLoS genetics |
| 21768215 | Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. | Tin A et al. | 2011 | Human molecular genetics |
| 21789219 | Effects of genetic variants in ADCY5, GIPR, GCKR and VPS13C on early impairment of glucose and insulin metabolism in children. | Windholz J et al. | 2011 | PloS one |
| 21848424 | Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States. | Vassy JL et al. | 2011 | Metabolic syndrome and related disorders |
| 21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
| 21862451 | GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. | Benyamin B et al. | 2011 | Human molecular genetics |
| 21868769 | World Congress on Insulin Resistance, Diabetes, and Cardiovascular Disease: part 3. | Bloomgarden ZT et al. | 2011 | Diabetes care |
| 21931561 | Genetic association for renal traits among participants of African ancestry reveals new loci for renal function. | Liu CT et al. | 2011 | PLoS genetics |
| 21937998 | Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults. | Curocichin G et al. | 2011 | Journal of human genetics |
| 21949744 | Effects of 16 genetic variants on fasting glucose and type 2 diabetes in South Asians: ADCY5 and GLIS3 variants may predispose to type 2 diabetes. | Rees SD et al. | 2011 | PloS one |
| 21976109 | Association of obesity-related genetic variants with endometrial cancer risk: a report from the Shanghai Endometrial Cancer Genetics Study. | Delahanty RJ et al. | 2011 | American journal of epidemiology |
| 21980298 | Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. | Böger CA et al. | 2011 | PLoS genetics |
| 22001757 | Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. | Chambers JC et al. | 2011 | Nature genetics |
| 22022282 | A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. | Avery CL et al. | 2011 | PLoS genetics |
| 22095588 | Glucokinase links Krüppel-like factor 6 to the regulation of hepatic insulin sensitivity in nonalcoholic fatty liver disease. | Bechmann LP et al. | 2012 | Hepatology (Baltimore, Md.) |
| 22105854 | Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. | Santoro N et al. | 2012 | Hepatology (Baltimore, Md.) |
| 22139419 | New gene functions in megakaryopoiesis and platelet formation. | Gieger C et al. | 2011 | Nature |
| 22307069 | Association of type 2 diabetes susceptibility loci with one-year weight loss in the look AHEAD clinical trial. | Peter I et al. | 2012 | Obesity (Silver Spring, Md.) |
| 22425169 | Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. | Shirts BH et al. | 2012 | Atherosclerosis |
| 22517333 | Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study. | Hishida A et al. | 2012 | Endocrine journal |
| 22546499 | Genome-wide association studies with metabolomics. | Adamski J et al. | 2012 | Genome medicine |
| 22558069 | Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. | Osman W et al. | 2012 | PloS one |
| 22567092 | MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS. | O'Reilly PF et al. | 2012 | PloS one |
| 22629316 | Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. | Musunuru K et al. | 2012 | PloS one |
| 23028791 | Multiple loci associated with renal function in African Americans. | Shriner D et al. | 2012 | PloS one |
| 23092954 | SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. | Meirelles OD et al. | 2013 | European journal of human genetics |
| 23150898 | Evaluation of seven common lipid associated loci in a large Indian sib pair study. | Rafiq S et al. | 2012 | Lipids in health and disease |
| 23236364 | Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. | Elbers CC et al. | 2012 | PloS one |
| 23275357 | The association between hepatic fat content and liver injury in obese children and adolescents: effects of ethnicity, insulin resistance, and common gene variants. | Santoro N et al. | 2013 | Diabetes care |
| 23586973 | Investigation of known estimated glomerular filtration rate loci in patients with type 2 diabetes. | Deshmukh HA et al. | 2013 | Diabetic medicine |
| 23800943 | Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene. | Tan HL et al. | 2014 | Journal of gastroenterology |
| 23832694 | Common genetic variants associated with lipid profiles in a Chinese pediatric population. | Shen Y et al. | 2013 | Human genetics |
| 24068962 | Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. | O'Seaghdha CM et al. | 2013 | PLoS genetics |
| 24178511 | Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip. | Gaunt TR et al. | 2013 | Thrombosis and haemostasis |
| 24274136 | Biobanking across the phenome - at the center of chronic disease research. | Imboden M et al. | 2013 | BMC public health |
| 24535998 | GCK, GCKR polymorphisms and risk of chronic kidney disease in Japanese individuals: data from the J-MICC Study. | Hishida A et al. | 2014 | Journal of nephrology |
| 24829591 | Nonalcoholic Fatty liver disease/non-alcoholic steatohepatitis in childhood: endocrine-metabolic "mal-programming". | Manti S et al. | 2014 | Hepatitis monthly |
| 24830394 | Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. | Giambartolomei C et al. | 2014 | PLoS genetics |
| 24843659 | Insights into the genetic basis of type 2 diabetes. | Kato N et al. | 2013 | Journal of diabetes investigation |
| 24879641 | Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families. | Rees MG et al. | 2014 | Human molecular genetics |
| 24918535 | Genetic variability of GCKR alters lipid profiles in children with monogenic and autoimmune diabetes. | Tracz A et al. | 2014 | Experimental and clinical endocrinology & diabetes |
| 24922540 | Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study. | Varga TV et al. | 2014 | PLoS genetics |
| 24931982 | GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. | Leslie R et al. | 2014 | Bioinformatics (Oxford, England) |
| 24932782 | Genetic risk score and adiposity interact to influence triglyceride levels in a cohort of Filipino women. | Zubair N et al. | 2014 | Nutrition & diabetes |
| 24966605 | Pediatric fatty liver disease: role of ethnicity and genetics. | Marzuillo P et al. | 2014 | World journal of gastroenterology |
| 25024592 | Proteomic and genomic studies of non-alcoholic fatty liver disease--clues in the pathogenesis. | Lim JW et al. | 2014 | World journal of gastroenterology |
| 25176936 | Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia. | De Castro-Orós I et al. | 2014 | Circulation. Cardiovascular genetics |
| 25238615 | A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND. | Shiffman D et al. | 2014 | PloS one |
| 25430627 | A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake. | Goni L et al. | 2015 | Genes & nutrition |
| 25573592 | Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations. | Sumegi K et al. | 2015 | Pathology oncology research |
| 25646370 | Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes. | Matsuo H et al. | 2016 | Annals of the rheumatic diseases |
| 25788527 | Uric Acid and Cardiovascular Events: A Mendelian Randomization Study. | Kleber ME et al. | 2015 | Journal of the American Society of Nephrology |
| 25920552 | Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array. | Rodriguez S et al. | 2016 | European journal of human genetics |
| 25976242 | GCKR polymorphism influences liver fat content in patients with type 2 diabetes. | Petit JM et al. | 2016 | Acta diabetologica |
| 26043229 | Hepatic De Novo Lipogenesis in Obese Youth Is Modulated by a Common Variant in the GCKR Gene. | Santoro N et al. | 2015 | The Journal of clinical endocrinology and metabolism |
| 26136510 | The n-3 long-chain PUFAs modulate the impact of the GCKR Pro446Leu polymorphism on triglycerides in adolescents. | Rousseaux J et al. | 2015 | Journal of lipid research |
| 26174136 | Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. | Setoh K et al. | 2015 | Nature communications |
| 26291577 | The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children. | Lee HJ et al. | 2015 | Clinica chimica acta; international journal of clinical chemistry |
| 26374098 | CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation. | Wang L et al. | 2015 | Genome biology |
| 26379859 | Polymorphisms in the GCKR are associated with serum lipid traits, the risk of coronary artery disease and ischemic stroke. | Zhou YJ et al. | 2015 | International journal of clinical and experimental medicine |
| 26433129 | GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study. | Tin A et al. | 2016 | Diabetic medicine |
| 26457389 | Role of TM6SF2 rs58542926 in the pathogenesis of nonalcoholic pediatric fatty liver disease: A multiethnic study. | Goffredo M et al. | 2016 | Hepatology (Baltimore, Md.) |
| 26780889 | Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. | Below JE et al. | 2016 | Scientific reports |
| 26833098 | Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels. | Kilpeläinen TO et al. | 2016 | Nature communications |
| 26902266 | Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes. | Giri AK et al. | 2016 | Scientific reports |
| 27094239 | Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. | Joshi AD et al. | 2016 | Gastroenterology |
| 27177774 | Interactive effects of C-reactive protein levels on the association between APOE variants and triglyceride levels in a Taiwanese population. | Wu S et al. | 2016 | Lipids in health and disease |
| 27181629 | Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. | Sakiyama M et al. | 2016 | Scientific reports |
| 27286809 | Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. | Ligthart S et al. | 2016 | BMC genomics |
| 27312935 | Genetics of Insulin Resistance and the Metabolic Syndrome. | Brown AE et al. | 2016 | Current cardiology reports |
| 27327646 | Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. | Prins BP et al. | 2016 | PLoS medicine |
| 27338949 | Mendelian Randomisation study of the influence of eGFR on coronary heart disease. | Charoen P et al. | 2016 | Scientific reports |
| 27432166 | Evaluation of differential effects of metformin treatment in obese children according to pubertal stage and genetic variations: study protocol for a randomized controlled trial. | Pastor-Villaescusa B et al. | 2016 | Trials |
| 27532011 | Additive Effects of the Risk Alleles of PNPLA3 and TM6SF2 on Non-alcoholic Fatty Liver Disease (NAFLD) in a Chinese Population. | Wang X et al. | 2016 | Frontiers in genetics |
| 27534721 | Influence of elevated-CRP level-related polymorphisms in non-rheumatic Caucasians on the risk of subclinical atherosclerosis and cardiovascular disease in rheumatoid arthritis. | López-Mejías R et al. | 2016 | Scientific reports |
| 27657051 | Molecular Pathogenesis of NASH. | Caligiuri A et al. | 2016 | International journal of molecular sciences |
| 27660121 | A Common Gene Variant in Glucokinase Regulatory Protein Interacts With Glucose Metabolism on Diabetic Dyslipidemia: the Combined CODAM and Hoorn Studies. | Simons N et al. | 2016 | Diabetes care |
| 27782183 | Evaluating the transferability of 15 European-derived fasting plasma glucose SNPs in Mexican children and adolescents. | Langlois C et al. | 2016 | Scientific reports |
| 27845333 | Habitual coffee consumption and risk of type 2 diabetes, ischemic heart disease, depression and Alzheimer's disease: a Mendelian randomization study. | Kwok MK et al. | 2016 | Scientific reports |
| 27917368 | Sex Steroid Hormone Single-Nucleotide Polymorphisms, Pesticide Use, and the Risk of Prostate Cancer: A Nested Case-Control Study within the Agricultural Health Study. | Christensen CH et al. | 2016 | Frontiers in oncology |
| 28133617 | Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected Women. | Franzago M et al. | 2017 | Journal of diabetes research |
| 28262806 | Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction. | Wu Y et al. | 2017 | Scientific reports |
| 28298293 | Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. | Hu Y et al. | 2017 | Journal of lipid research |
| 28385800 | An Exome-Chip Association Analysis in Chinese Subjects Reveals a Functional Missense Variant of GCKR That Regulates FGF21 Levels. | Cheung CYY et al. | 2017 | Diabetes |
| 28577571 | Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. | Paththinige CS et al. | 2017 | Lipids in health and disease |
| 28666712 | The association between six genetic variants and blood lipid levels in pregnant Chinese Han women. | Nie M et al. | 2017 | Journal of clinical lipidology |
| 28679452 | Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout. | Rasheed H et al. | 2017 | Arthritis research & therapy |
| 28695325 | A modified response of NAFLD patients with non-significant fibrosis in nutritional counseling according to GCKR rs1260326. | Kaliora AC et al. | 2018 | European journal of nutrition |
| 28793914 | Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank. | Cadzow M et al. | 2017 | Arthritis research & therapy |
| 28964830 | Causal effects of cardiovascular risk factors on onset of major age-related diseases: A time-to-event Mendelian randomization study. | He L et al. | 2018 | Experimental gerontology |
| 29264510 | Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age. | Grigorova M et al. | 2017 | Journal of the Endocrine Society |
| 29303622 | Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. | Kamble PG et al. | 2017 | Upsala journal of medical sciences |
| 29325775 | Nutrigenetic variants and cardio-metabolic risk in women with or without gestational diabetes. | Franzago M et al. | 2018 | Diabetes research and clinical practice |
| 29385134 | Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers. | Kawaguchi T et al. | 2018 | PloS one |
| 29487372 | Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy. | Di Costanzo A et al. | 2018 | Scientific reports |
| 29493856 | Analysis of genotyping for predicting liver injury marker, procollagen III in persons at risk of non-alcoholic fatty liver disease. | Grove JI et al. | 2018 | Liver international |
| 29648650 | NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects. | Sliz E et al. | 2018 | Human molecular genetics |
| 29665034 | Metabolic Features of Nonalcoholic Fatty Liver (NAFL) in Obese Adolescents: Findings From a Multiethnic Cohort. | Tricò D et al. | 2018 | Hepatology (Baltimore, Md.) |
| 29855200 | Common gene variants interactions related to uric acid transport are associated with knee osteoarthritis susceptibility. | Fernández-Torres J et al. | 2019 | Connective tissue research |
| 29976226 | Mediation analysis to understand genetic relationships between habitual coffee intake and gout. | Hutton J et al. | 2018 | Arthritis research & therapy |
| 30074174 | Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder. | Noroozi R et al. | 2018 | Journal of molecular neuroscience |
| 30091126 | Association of type 2 diabetes susceptible genes GCKR, SLC30A8, and FTO polymorphisms with gestational diabetes mellitus risk: a meta-analysis. | Lin Z et al. | 2018 | Endocrine |
| 30123371 | Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout. | Zhu W et al. | 2018 | The open rheumatology journal |
| 30176313 | Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos. | Cid-Soto MA et al. | 2018 | Gene |
| 30352097 | Association of common gene variants in glucokinase regulatory protein with cardiorenal disease: A systematic review and meta-analysis. | Simons PIHG et al. | 2018 | PloS one |
| 30409984 | Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE et al. | 2018 | Scientific reports |
| 30444569 | Genetic determinants of steatosis and fibrosis progression in paediatric non-alcoholic fatty liver disease. | Hudert CA et al. | 2019 | Liver international |
| 30476131 | Mendelian randomization analysis of C-reactive protein on colorectal cancer risk. | Wang X et al. | 2019 | International journal of epidemiology |
| 30527264 | Genotype effects of glucokinase regulator on lipid profiles and glycemic status are modified by circulating calcium levels: results from the Korean Genome and Epidemiology Study. | Kim OY et al. | 2018 | Nutrition research (New York, N.Y.) |
| 30626429 | Interactions between serum urate-associated genetic variants and sex on gout risk: analysis of the UK Biobank. | Narang RK et al. | 2019 | Arthritis research & therapy |
| 30646922 | Genetic polymorphisms associated with nonalcoholic fatty liver disease in Uyghur population: a case-control study and meta-analysis. | Cai W et al. | 2019 | Lipids in health and disease |
| 30924303 | Gout and the risk of Alzheimer's disease: A Mendelian randomization study. | Lee YH et al. | 2019 | International journal of rheumatic diseases |
| 31134135 | Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms. | Kulminski AM et al. | 2019 | Frontiers in genetics |
| 31231424 | Genetic and Epigenetic Studies in Diabetic Kidney Disease. | Gu HF et al. | 2019 | Frontiers in genetics |
| 31255630 | Contribution of a genetic risk score to clinical prediction of hepatic steatosis in obese children and adolescents. | Zusi C et al. | 2019 | Digestive and liver disease |
| 31270413 | ||||
| 31505904 | Nonalcoholic Fatty Liver Disease (NAFLD), But not Its Susceptibility Gene Variants, Influences the Decrease of Kidney Function in Overweight/Obese Children. | Di Costanzo A et al. | 2019 | International journal of molecular sciences |
| 31578044 | Maternal seafood consumption during pregnancy and child attention outcomes: a cohort study with gene effect modification by PUFA-related genes. | Julvez J et al. | 2020 | International journal of epidemiology |
| 31648709 | Genome-Wide Assessment for Resting Heart Rate and Shared Genetics With Cardiometabolic Traits and Type 2 Diabetes. | Guo Y et al. | 2019 | Journal of the American College of Cardiology |
| 31666285 | Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood. | Olafsson S et al. | 2020 | Cancer epidemiology, biomarkers & prevention |
| 31766143 | Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects. | Ortega-Azorín C et al. | 2019 | Nutrients |
| 31796261 | Contribution of genetic, biochemical and environmental factors on insulin resistance and obesity in Mexican young adults. | Flores-Viveros KL et al. | 2019 | Obesity research & clinical practice |
| 31884074 | Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses. | Murphy N et al. | 2020 | Gastroenterology |
| 31910446 | Genome-wide association study of metabolic syndrome in Korean populations. | Oh SW et al. | 2020 | PloS one |
| 31915598 | Association of GCKR Gene Polymorphisms with the Risk of Nonalcoholic Fatty Liver Disease and Coronary Artery Disease in a Chinese Northern Han Population. | Gao H et al. | 2019 | Journal of clinical and translational hepatology |
| 31960587 | The endothelial function biomarker soluble E-selectin is associated with nonalcoholic fatty liver disease. | Simons N et al. | 2020 | Liver international |
| 31998841 | Functional validity, role, and implications of heavy alcohol consumption genetic loci. | Thompson A et al. | 2020 | Science advances |
| 32195538 | Single Nucleotide Polymorphisms Related to Lipoprotein Metabolism Are Associated with Blood Lipid Changes following Regular Avocado Intake in a Randomized Control Trial among Adults with Overweight and Obesity. | Hannon BA et al. | 2020 | The Journal of nutrition |
| 32292418 | Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study. | Niu PP et al. | 2020 | Frontiers in genetics |
| 32349377 | Possible Relevance of PNPLA3 and TLL1 Gene Polymorphisms to the Efficacy of PEG-IFN Therapy for HBV-Infected Patients. | Enomoto H et al. | 2020 | International journal of molecular sciences |
| 32443539 | Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan. | Raja AM et al. | 2020 | International journal of molecular sciences |
| 32556615 | Metabolomic and genetic associations with insulin resistance in pregnancy. | Liu Y et al. | 2020 | Diabetologia |
| 32917775 | Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity. | Yaghootkar H et al. | 2020 | Diabetes |
| 33105679 | Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study. | Castaldo L et al. | 2020 | Genes |
| 33243135 | Contribution of Rs780094 and Rs1260326 Polymorphisms in GCKR Gene to Non-alcoholic Fatty Liver Disease: A Meta-Analysis Involving 26,552 Participants. | Li J et al. | 2021 | Endocrine, metabolic & immune disorders drug targets |
| 33387670 | The Health Impact of MAFLD, a Novel Disease Cluster of NAFLD, Is Amplified by the Integrated Effect of Fatty Liver Disease-Related Genetic Variants. | Liu Z et al. | 2022 | Clinical gastroenterology and hepatology |
| 33602293 | GCKR common functional polymorphisms are associated with metabolic syndrome and its components: a 10-year retrospective cohort study in Iranian adults. | Zahedi AS et al. | 2021 | Diabetology & metabolic syndrome |
| 33810064 | The Epidemiology and Genetics of Hyperuricemia and Gout across Major Racial Groups: A Literature Review and Population Genetics Secondary Database Analysis. | Butler F et al. | 2021 | Journal of personalized medicine |
| 34025845 | Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study. | Mazidi M et al. | 2021 | Archives of medical science |
| 34068824 | Alcohol Consumption Is Associated with Poor Prognosis in Obese Patients with COVID-19: A Mendelian Randomization Study Using UK Biobank. | Fan X et al. | 2021 | Nutrients |
| 34427645 | Lifestyle Factors and Genetic Variants on 2 Biological Age Measures: Evidence From 94 443 Taiwan Biobank Participants. | Lin WY et al. | 2022 | The journals of gerontology. Series A, Biological sciences and medical sciences |
| 34535014 | Genetic variants associated with inflammatory bowel disease and gut graft-versus-host disease. | Martin PJ et al. | 2021 | Blood advances |
| 34594363 | Suggestive Evidence for Causal Effect of Leptin Levels on Risk for Anorexia Nervosa: Results of a Mendelian Randomization Study. | Peters T et al. | 2021 | Frontiers in genetics |
| 35124268 | Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. | Li J et al. | 2022 | Clinical gastroenterology and hepatology |
| 35178663 | Distinctive clinical and genetic features of lean vs overweight fatty liver disease using the UK Biobank. | Chahal D et al. | 2022 | Hepatology international |
| 35276241 | Association of glucokinase gene and glucokinase regulatory protein gene polymorphisms with gestational diabetes mellitus: A case-control study. | She L et al. | 2022 | Gene |
| 35328045 | Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits. | Yeh KH et al. | 2022 | Genes |
| 35333773 | The association between rs1260326 with the risk of NAFLD and the mediation effect of triglyceride on NAFLD in the elderly Chinese Han population. | Yuan F et al. | 2022 | Aging |
| 35350411 | "GENYAL" Study to Childhood Obesity Prevention: Methodology and Preliminary Results. | Marcos-Pasero H et al. | 2022 | Frontiers in nutrition |
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| 35620859 | Contribution of a genetic risk score to ethnic differences in fatty liver disease. | Kubiliun MJ et al. | 2022 | Liver international |
| 35633389 | Are polymorphisms affecting serum urate, renal urate handling and alcohol intake associated with co-morbidities in gout cases? A case-control study using data from the UK Biobank. | Sandoval-Plata G et al. | 2022 | Rheumatology international |
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| 35728485 | Investigation of metabolomic biomarkers for childhood executive function and the role of genetic and dietary factors: The GUSTO cohort. | Huang J et al. | 2022 | EBioMedicine |
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| 35999016 | Study of common hypertriglyceridaemia genetic variants and subclinical atherosclerosis in a group of women with SLE and a control group. | Fanlo-Maresma M et al. | 2022 | Lupus science & medicine |
| 36099111 | Association of Alcohol Use Disorder Risk With ADH1B, DRD2, FAAH, SLC39A8, GCKR, and PDYN Genetic Polymorphisms. | Legaki E et al. | 2022 | In vivo (Athens, Greece) |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.