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.
rs646776
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:109275908 (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
- C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.218257 (70721/324026, ALFA)C=0.257611 (68187/264690, TOPMED)C=0.256983 (36008/140118, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CELSR2 : 500B Downstream Variant
- Publications
- 104 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 | 324120 | C=0.218240 | T=0.781760 |
| European | Sub | 280912 | C=0.217748 | T=0.782252 |
| African | Sub | 11084 | C=0.35628 | T=0.64372 |
| African Others | Sub | 402 | C=0.393 | T=0.607 |
| African American | Sub | 10682 | C=0.35490 | T=0.64510 |
| Asian | Sub | 6824 | C=0.0523 | T=0.9477 |
| East Asian | Sub | 4888 | C=0.0518 | T=0.9482 |
| Other Asian | Sub | 1936 | C=0.0537 | T=0.9463 |
| Latin American 1 | Sub | 1074 | C=0.2570 | T=0.7430 |
| Latin American 2 | Sub | 3160 | C=0.2082 | T=0.7918 |
| South Asian | Sub | 5220 | C=0.2412 | T=0.7588 |
| Other | Sub | 15846 | C=0.19368 | T=0.80632 |
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 | 324026 | C=0.218257 | T=0.781743 |
| Allele Frequency Aggregator | European | Sub | 280836 | C=0.217764 | T=0.782236 |
| Allele Frequency Aggregator | Other | Sub | 15828 | C=0.19371 | T=0.80629 |
| Allele Frequency Aggregator | African | Sub | 11084 | C=0.35628 | T=0.64372 |
| Allele Frequency Aggregator | Asian | Sub | 6824 | C=0.0523 | T=0.9477 |
| Allele Frequency Aggregator | South Asian | Sub | 5220 | C=0.2412 | T=0.7588 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3160 | C=0.2082 | T=0.7918 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1074 | C=0.2570 | T=0.7430 |
| TopMed | Global | Study-wide | 264690 | C=0.257611 | T=0.742389 |
| gnomAD - Genomes | Global | Study-wide | 140118 | C=0.256983 | T=0.743017 |
| gnomAD - Genomes | European | Sub | 75888 | C=0.22253 | T=0.77747 |
| gnomAD - Genomes | African | Sub | 41974 | C=0.35227 | T=0.64773 |
| gnomAD - Genomes | American | Sub | 13656 | C=0.22349 | T=0.77651 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.1714 | T=0.8286 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=0.0642 | T=0.9358 |
| gnomAD - Genomes | Other | Sub | 2148 | C=0.2388 | T=0.7612 |
| 14KJPN | JAPANESE | Study-wide | 28256 | C=0.07014 | T=0.92986 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.06981 | T=0.93019 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.2414 | T=0.7586 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.3931 | T=0.6069 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.2141 | T=0.7859 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.2579 | T=0.7421 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.0453 | T=0.9547 |
| 1000Genomes_30x | American | Sub | 980 | C=0.214 | T=0.786 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.2384 | T=0.7616 |
| 1000Genomes | African | Sub | 1322 | C=0.3979 | T=0.6021 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.0456 | T=0.9544 |
| 1000Genomes | Europe | Sub | 1006 | C=0.2127 | T=0.7873 |
| 1000Genomes | South Asian | Sub | 978 | C=0.260 | T=0.740 |
| 1000Genomes | American | Sub | 694 | C=0.222 | T=0.778 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.2346 | T=0.7654 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.2138 | T=0.7862 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.2149 | T=0.7851 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.0584 | G=0.0000, T=0.9416 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.1867 | T=0.8133 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.087 | T=0.913 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.237 | T=0.763 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.131 | T=0.869 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.206 | T=0.794 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.405 | T=0.595 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.176 | T=0.824 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.03 | T=0.97 |
| HapMap | Global | Study-wide | 1882 | C=0.2529 | T=0.7471 |
| HapMap | American | Sub | 766 | C=0.222 | T=0.778 |
| HapMap | African | Sub | 688 | C=0.363 | T=0.637 |
| HapMap | Asian | Sub | 254 | C=0.059 | T=0.941 |
| HapMap | Europe | Sub | 174 | C=0.236 | T=0.764 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.0595 | T=0.9405 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.212 | T=0.788 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 778 | C=0.059 | T=0.941 |
| CNV burdens in cranial meningiomas | CRM | Sub | 778 | C=0.059 | T=0.941 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.253 | T=0.747 |
| SGDP_PRJ | Global | Study-wide | 520 | C=0.129 | T=0.871 |
| Qatari | Global | Study-wide | 216 | C=0.185 | T=0.815 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | C=0.061 | T=0.939 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 56 | C=0.36 | T=0.64 |
| Siberian | Global | Study-wide | 56 | C=0.12 | T=0.88 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.28 | T=0.72 |
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 1 | NC_000001.11:g.109275908C>G |
| GRCh38.p14 chr 1 | NC_000001.11:g.109275908C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.109818530C>G |
| GRCh37.p13 chr 1 | NC_000001.10:g.109818530C>T |
| CELSR2 RefSeqGene | NG_052669.1:g.31204C>G |
| CELSR2 RefSeqGene | NG_052669.1:g.31204C>T |
| LOC110121285 genomic region | NG_053900.1:g.1757C>G |
| LOC110121285 genomic region | NG_053900.1:g.1757C>T |
Gene: CELSR2, cadherin EGF LAG seven-pass G-type receptor 2
(plus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CELSR2 transcript | NM_001408.3:c. | N/A | 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.
Not Reported in ClinVar
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 | C= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.109275908= | NC_000001.11:g.109275908C>G | NC_000001.11:g.109275908C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.109818530= | NC_000001.10:g.109818530C>G | NC_000001.10:g.109818530C>T |
| CELSR2 RefSeqGene | NG_052669.1:g.31204= | NG_052669.1:g.31204C>G | NG_052669.1:g.31204C>T |
| LOC110121285 genomic region | NG_053900.1:g.1757= | NG_053900.1:g.1757C>G | NG_053900.1:g.1757C>T |
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#.
162 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss819663 | Aug 11, 2000 (83) |
| 2 | SC_JCM | ss2441339 | Nov 09, 2000 (92) |
| 3 | WI_SSAHASNP | ss6880299 | Feb 20, 2003 (111) |
| 4 | CSHL-HAPMAP | ss19873700 | Feb 27, 2004 (120) |
| 5 | PERLEGEN | ss23200211 | Sep 20, 2004 (123) |
| 6 | ABI | ss43911731 | Mar 15, 2006 (126) |
| 7 | ILLUMINA | ss66590890 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss67458328 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss67811257 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss70866296 | May 24, 2008 (130) |
| 11 | ILLUMINA | ss71454390 | May 18, 2007 (127) |
| 12 | ILLUMINA | ss74937735 | Dec 07, 2007 (129) |
| 13 | ILLUMINA | ss79221552 | Dec 15, 2007 (130) |
| 14 | KRIBB_YJKIM | ss83506731 | Dec 15, 2007 (130) |
| 15 | HGSV | ss83595467 | Dec 15, 2007 (130) |
| 16 | BCMHGSC_JDW | ss87707240 | Mar 23, 2008 (129) |
| 17 | HUMANGENOME_JCVI | ss99239050 | Feb 05, 2009 (130) |
| 18 | BGI | ss106594350 | Feb 05, 2009 (130) |
| 19 | 1000GENOMES | ss108513019 | Jan 23, 2009 (130) |
| 20 | 1000GENOMES | ss110995129 | Jan 25, 2009 (130) |
| 21 | ILLUMINA-UK | ss118963315 | Feb 15, 2009 (130) |
| 22 | WTCCC | ss120253556 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss122544739 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss138058025 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss154361462 | Dec 01, 2009 (131) |
| 26 | GMI | ss155513237 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss159537658 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss160776804 | Dec 01, 2009 (131) |
| 29 | ENSEMBL | ss161157704 | Dec 01, 2009 (131) |
| 30 | COMPLETE_GENOMICS | ss163877252 | Jul 04, 2010 (132) |
| 31 | COMPLETE_GENOMICS | ss164997538 | Jul 04, 2010 (132) |
| 32 | COMPLETE_GENOMICS | ss166981422 | Jul 04, 2010 (132) |
| 33 | ILLUMINA | ss172127972 | Jul 04, 2010 (132) |
| 34 | ILLUMINA | ss174009595 | Jul 04, 2010 (132) |
| 35 | PAGE_STUDY | ss181341897 | Jul 04, 2010 (132) |
| 36 | PAGE_STUDY | ss181834363 | Jul 04, 2010 (132) |
| 37 | PAGE_STUDY | ss181835996 | Jul 04, 2010 (132) |
| 38 | PAGE_STUDY | ss182258770 | Jul 04, 2010 (132) |
| 39 | BUSHMAN | ss198919095 | Jul 04, 2010 (132) |
| 40 | BCM-HGSC-SUB | ss205127310 | Jul 04, 2010 (132) |
| 41 | 1000GENOMES | ss218589303 | Jul 14, 2010 (132) |
| 42 | 1000GENOMES | ss230686427 | Jul 14, 2010 (132) |
| 43 | 1000GENOMES | ss238345627 | Jul 15, 2010 (132) |
| 44 | ILLUMINA | ss244304992 | Jul 04, 2010 (132) |
| 45 | BL | ss253372558 | May 09, 2011 (134) |
| 46 | GMI | ss275973418 | May 04, 2012 (137) |
| 47 | GMI | ss284118933 | Apr 25, 2013 (138) |
| 48 | PJP | ss290595740 | May 09, 2011 (134) |
| 49 | ILLUMINA | ss410941078 | Sep 17, 2011 (135) |
| 50 | ILLUMINA | ss481251024 | May 04, 2012 (137) |
| 51 | ILLUMINA | ss481275181 | May 04, 2012 (137) |
| 52 | ILLUMINA | ss482260337 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss485420895 | May 04, 2012 (137) |
| 54 | EXOME_CHIP | ss491297824 | May 04, 2012 (137) |
| 55 | ILLUMINA | ss537352624 | Sep 08, 2015 (146) |
| 56 | TISHKOFF | ss554559835 | Apr 25, 2013 (138) |
| 57 | SSMP | ss648304205 | Apr 25, 2013 (138) |
| 58 | ILLUMINA | ss778940769 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss783155876 | Sep 08, 2015 (146) |
| 60 | ILLUMINA | ss784111755 | Sep 08, 2015 (146) |
| 61 | ILLUMINA | ss825552070 | Jul 19, 2016 (147) |
| 62 | ILLUMINA | ss832415166 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss833048874 | Jul 12, 2019 (153) |
| 64 | ILLUMINA | ss834402474 | Sep 08, 2015 (146) |
| 65 | EVA-GONL | ss975556879 | Aug 21, 2014 (142) |
| 66 | JMKIDD_LAB | ss1068182810 | Aug 21, 2014 (142) |
| 67 | 1000GENOMES | ss1292378664 | Aug 21, 2014 (142) |
| 68 | DDI | ss1425933368 | Apr 01, 2015 (144) |
| 69 | EVA_GENOME_DK | ss1574314679 | Apr 01, 2015 (144) |
| 70 | EVA_DECODE | ss1584936065 | Apr 01, 2015 (144) |
| 71 | EVA_UK10K_ALSPAC | ss1600960460 | Apr 01, 2015 (144) |
| 72 | EVA_UK10K_TWINSUK | ss1643954493 | Apr 01, 2015 (144) |
| 73 | EVA_SVP | ss1712361801 | Apr 01, 2015 (144) |
| 74 | ILLUMINA | ss1751862256 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss1751862257 | Sep 08, 2015 (146) |
| 76 | HAMMER_LAB | ss1794911541 | Sep 08, 2015 (146) |
| 77 | ILLUMINA | ss1917732211 | Feb 12, 2016 (147) |
| 78 | WEILL_CORNELL_DGM | ss1918756801 | Feb 12, 2016 (147) |
| 79 | ILLUMINA | ss1946004322 | Feb 12, 2016 (147) |
| 80 | GENOMED | ss1966838617 | Jul 19, 2016 (147) |
| 81 | JJLAB | ss2019902886 | Sep 14, 2016 (149) |
| 82 | ILLUMINA | ss2094784171 | Dec 20, 2016 (150) |
| 83 | ILLUMINA | ss2094971082 | Dec 20, 2016 (150) |
| 84 | USC_VALOUEV | ss2147920496 | Dec 20, 2016 (150) |
| 85 | HUMAN_LONGEVITY | ss2165601624 | Dec 20, 2016 (150) |
| 86 | SYSTEMSBIOZJU | ss2624460780 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss2632561076 | Nov 08, 2017 (151) |
| 88 | ILLUMINA | ss2632561077 | Nov 08, 2017 (151) |
| 89 | ILLUMINA | ss2632561078 | Nov 08, 2017 (151) |
| 90 | GRF | ss2697850278 | Nov 08, 2017 (151) |
| 91 | GNOMAD | ss2759407663 | Nov 08, 2017 (151) |
| 92 | AFFY | ss2984869941 | Nov 08, 2017 (151) |
| 93 | AFFY | ss2985520924 | Nov 08, 2017 (151) |
| 94 | SWEGEN | ss2987416821 | Nov 08, 2017 (151) |
| 95 | ILLUMINA | ss3021119233 | Nov 08, 2017 (151) |
| 96 | ILLUMINA | ss3021119234 | Nov 08, 2017 (151) |
| 97 | BIOINF_KMB_FNS_UNIBA | ss3023715331 | Nov 08, 2017 (151) |
| 98 | CSHL | ss3343629213 | Nov 08, 2017 (151) |
| 99 | ILLUMINA | ss3626179039 | Oct 11, 2018 (152) |
| 100 | ILLUMINA | ss3630594917 | Oct 11, 2018 (152) |
| 101 | ILLUMINA | ss3632905427 | Oct 11, 2018 (152) |
| 102 | ILLUMINA | ss3633600516 | Oct 11, 2018 (152) |
| 103 | ILLUMINA | ss3634342018 | Oct 11, 2018 (152) |
| 104 | ILLUMINA | ss3634342019 | Oct 11, 2018 (152) |
| 105 | ILLUMINA | ss3635294083 | Oct 11, 2018 (152) |
| 106 | ILLUMINA | ss3636019928 | Oct 11, 2018 (152) |
| 107 | ILLUMINA | ss3637044543 | Oct 11, 2018 (152) |
| 108 | ILLUMINA | ss3637778998 | Oct 11, 2018 (152) |
| 109 | ILLUMINA | ss3638907490 | Oct 11, 2018 (152) |
| 110 | ILLUMINA | ss3639451769 | Oct 11, 2018 (152) |
| 111 | ILLUMINA | ss3640049377 | Oct 11, 2018 (152) |
| 112 | ILLUMINA | ss3640049378 | Oct 11, 2018 (152) |
| 113 | ILLUMINA | ss3642788892 | Oct 11, 2018 (152) |
| 114 | ILLUMINA | ss3644500293 | Oct 11, 2018 (152) |
| 115 | URBANLAB | ss3646749305 | Oct 11, 2018 (152) |
| 116 | ILLUMINA | ss3651451151 | Oct 11, 2018 (152) |
| 117 | ILLUMINA | ss3651451152 | Oct 11, 2018 (152) |
| 118 | ILLUMINA | ss3653642129 | Oct 11, 2018 (152) |
| 119 | EGCUT_WGS | ss3655505311 | Jul 12, 2019 (153) |
| 120 | EVA_DECODE | ss3687504081 | Jul 12, 2019 (153) |
| 121 | ILLUMINA | ss3725053076 | Jul 12, 2019 (153) |
| 122 | ACPOP | ss3727377698 | Jul 12, 2019 (153) |
| 123 | ILLUMINA | ss3744349307 | Jul 12, 2019 (153) |
| 124 | ILLUMINA | ss3744642976 | Jul 12, 2019 (153) |
| 125 | ILLUMINA | ss3744642977 | Jul 12, 2019 (153) |
| 126 | EVA | ss3746655789 | Jul 12, 2019 (153) |
| 127 | ILLUMINA | ss3772144195 | Jul 12, 2019 (153) |
| 128 | ILLUMINA | ss3772144196 | Jul 12, 2019 (153) |
| 129 | PACBIO | ss3783515729 | Jul 12, 2019 (153) |
| 130 | PACBIO | ss3789158156 | Jul 12, 2019 (153) |
| 131 | PACBIO | ss3794031067 | Jul 12, 2019 (153) |
| 132 | KHV_HUMAN_GENOMES | ss3799660227 | Jul 12, 2019 (153) |
| 133 | EVA | ss3826362435 | Apr 25, 2020 (154) |
| 134 | EVA | ss3836572718 | Apr 25, 2020 (154) |
| 135 | EVA | ss3841981041 | Apr 25, 2020 (154) |
| 136 | HGDP | ss3847345818 | Apr 25, 2020 (154) |
| 137 | SGDP_PRJ | ss3849622933 | Apr 25, 2020 (154) |
| 138 | KRGDB | ss3894712803 | Apr 25, 2020 (154) |
| 139 | KOGIC | ss3945219400 | Apr 25, 2020 (154) |
| 140 | EVA | ss3984462668 | Apr 25, 2021 (155) |
| 141 | EVA | ss3984818379 | Apr 25, 2021 (155) |
| 142 | EVA | ss4016930986 | Apr 25, 2021 (155) |
| 143 | TOPMED | ss4463131503 | Apr 25, 2021 (155) |
| 144 | TOMMO_GENOMICS | ss5145621447 | Apr 25, 2021 (155) |
| 145 | 1000G_HIGH_COVERAGE | ss5243564435 | Oct 12, 2022 (156) |
| 146 | EVA | ss5314642578 | Oct 12, 2022 (156) |
| 147 | EVA | ss5321100146 | Oct 12, 2022 (156) |
| 148 | HUGCELL_USP | ss5444492260 | Oct 12, 2022 (156) |
| 149 | EVA | ss5505993435 | Oct 12, 2022 (156) |
| 150 | 1000G_HIGH_COVERAGE | ss5516534297 | Oct 12, 2022 (156) |
| 151 | SANFORD_IMAGENETICS | ss5624214841 | Oct 12, 2022 (156) |
| 152 | SANFORD_IMAGENETICS | ss5626273001 | Oct 12, 2022 (156) |
| 153 | TOMMO_GENOMICS | ss5670871739 | Oct 12, 2022 (156) |
| 154 | EVA | ss5799495309 | Oct 12, 2022 (156) |
| 155 | YY_MCH | ss5800920811 | Oct 12, 2022 (156) |
| 156 | EVA | ss5832465809 | Oct 12, 2022 (156) |
| 157 | EVA | ss5847164819 | Oct 12, 2022 (156) |
| 158 | EVA | ss5847550407 | Oct 12, 2022 (156) |
| 159 | EVA | ss5849062626 | Oct 12, 2022 (156) |
| 160 | EVA | ss5909746506 | Oct 12, 2022 (156) |
| 161 | EVA | ss5938137113 | Oct 12, 2022 (156) |
| 162 | EVA | ss5979285449 | Oct 12, 2022 (156) |
| 163 | 1000Genomes | NC_000001.10 - 109818530 | Oct 11, 2018 (152) |
| 164 | 1000Genomes_30x | NC_000001.11 - 109275908 | Oct 12, 2022 (156) |
| 165 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 109818530 | Oct 11, 2018 (152) |
| 166 | Genetic variation in the Estonian population | NC_000001.10 - 109818530 | Oct 11, 2018 (152) |
| 167 | The Danish reference pan genome | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 168 | gnomAD - Genomes | NC_000001.11 - 109275908 | Apr 25, 2021 (155) |
| 169 | Genome of the Netherlands Release 5 | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 170 | HGDP-CEPH-db Supplement 1 | NC_000001.9 - 109620053 | Apr 25, 2020 (154) |
| 171 | HapMap | NC_000001.11 - 109275908 | Apr 25, 2020 (154) |
| 172 | KOREAN population from KRGDB | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 173 | Korean Genome Project | NC_000001.11 - 109275908 | Apr 25, 2020 (154) |
| 174 | Northern Sweden | NC_000001.10 - 109818530 | Jul 12, 2019 (153) |
| 175 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000001.10 - 109818530 | Apr 25, 2021 (155) |
| 176 | CNV burdens in cranial meningiomas | NC_000001.10 - 109818530 | Apr 25, 2021 (155) |
| 177 | Qatari | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 178 | SGDP_PRJ | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 179 | Siberian | NC_000001.10 - 109818530 | Apr 25, 2020 (154) |
| 180 | 8.3KJPN | NC_000001.10 - 109818530 | Apr 25, 2021 (155) |
| 181 | 14KJPN | NC_000001.11 - 109275908 | Oct 12, 2022 (156) |
| 182 | TopMed | NC_000001.11 - 109275908 | Apr 25, 2021 (155) |
| 183 | UK 10K study - Twins | NC_000001.10 - 109818530 | Oct 11, 2018 (152) |
| 184 | A Vietnamese Genetic Variation Database | NC_000001.10 - 109818530 | Jul 12, 2019 (153) |
| 185 | ALFA | NC_000001.11 - 109275908 | Apr 25, 2021 (155) |
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) |
|---|---|
| rs1624712 | Jan 18, 2001 (92) |
| rs58595816 | May 24, 2008 (130) |
| rs386602928 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 1890197, ss3894712803 | NC_000001.10:109818529:C:G | NC_000001.11:109275907:C:G | (self) |
| ss83595467, ss3638907490, ss3639451769 | NC_000001.8:109530571:C:T | NC_000001.11:109275907:C:T | (self) |
| 23710, ss87707240, ss108513019, ss110995129, ss118963315, ss163877252, ss164997538, ss166981422, ss198919095, ss205127310, ss253372558, ss275973418, ss284118933, ss290595740, ss481251024, ss825552070, ss1584936065, ss1712361801, ss3642788892, ss3847345818 | NC_000001.9:109620052:C:T | NC_000001.11:109275907:C:T | (self) |
| 3152764, 1741576, 1243559, 1659442, 758745, 1890197, 662563, 44306, 11980, 798731, 1639913, 436850, 3590754, 1741576, 377923, ss218589303, ss230686427, ss238345627, ss481275181, ss482260337, ss485420895, ss491297824, ss537352624, ss554559835, ss648304205, ss778940769, ss783155876, ss784111755, ss832415166, ss833048874, ss834402474, ss975556879, ss1068182810, ss1292378664, ss1425933368, ss1574314679, ss1600960460, ss1643954493, ss1751862256, ss1751862257, ss1794911541, ss1917732211, ss1918756801, ss1946004322, ss1966838617, ss2019902886, ss2094784171, ss2094971082, ss2147920496, ss2624460780, ss2632561076, ss2632561077, ss2632561078, ss2697850278, ss2759407663, ss2984869941, ss2985520924, ss2987416821, ss3021119233, ss3021119234, ss3343629213, ss3626179039, ss3630594917, ss3632905427, ss3633600516, ss3634342018, ss3634342019, ss3635294083, ss3636019928, ss3637044543, ss3637778998, ss3640049377, ss3640049378, ss3644500293, ss3651451151, ss3651451152, ss3653642129, ss3655505311, ss3727377698, ss3744349307, ss3744642976, ss3744642977, ss3746655789, ss3772144195, ss3772144196, ss3783515729, ss3789158156, ss3794031067, ss3826362435, ss3836572718, ss3849622933, ss3894712803, ss3984462668, ss3984818379, ss4016930986, ss5145621447, ss5314642578, ss5321100146, ss5505993435, ss5624214841, ss5626273001, ss5799495309, ss5832465809, ss5847164819, ss5847550407, ss5938137113, ss5979285449 | NC_000001.10:109818529:C:T | NC_000001.11:109275907:C:T | (self) |
| 4060232, 22306417, 151561, 1597401, 4708843, 26737838, 9262407373, ss2165601624, ss3023715331, ss3646749305, ss3687504081, ss3725053076, ss3799660227, ss3841981041, ss3945219400, ss4463131503, ss5243564435, ss5444492260, ss5516534297, ss5670871739, ss5800920811, ss5849062626, ss5909746506 | NC_000001.11:109275907:C:T | NC_000001.11:109275907:C:T | (self) |
| ss19873700 | NT_019273.16:814477:C:T | NC_000001.11:109275907:C:T | (self) |
| ss819663, ss2441339, ss6880299, ss23200211, ss43911731, ss66590890, ss67458328, ss67811257, ss70866296, ss71454390, ss74937735, ss79221552, ss83506731, ss99239050, ss106594350, ss120253556, ss122544739, ss138058025, ss154361462, ss155513237, ss159537658, ss160776804, ss161157704, ss172127972, ss174009595, ss181341897, ss181834363, ss181835996, ss182258770, ss244304992, ss410941078 | NT_032977.9:79790447:C:T | NC_000001.11:109275907:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
104
citations for rs646776
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18179892 | Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. | Wallace C et al. | 2008 | American journal of human genetics |
| 18193044 | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. | Kathiresan S et al. | 2008 | Nature genetics |
| 18262040 | LDL-cholesterol concentrations: a genome-wide association study. | Sandhu MS et al. | 2008 | Lancet (London, England) |
| 18852197 | Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. | Mohlke KL et al. | 2008 | Human molecular genetics |
| 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 |
| 19060911 | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. | Aulchenko YS et al. | 2009 | Nature genetics |
| 19185284 | Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. | Ferrucci L et al. | 2009 | American journal of human genetics |
| 19198609 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. | Kathiresan S et al. | 2009 | Nature genetics |
| 19299407 | Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. | Lanktree MB et al. | 2009 | Journal of lipid research |
| 19380133 | Significant impact of chromosomal locus 1p13.3 on serum LDL cholesterol and on angiographically characterized coronary atherosclerosis. | Muendlein A et al. | 2009 | Atherosclerosis |
| 19435741 | Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. | Murray A et al. | 2009 | European heart journal |
| 19679263 | Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study. | Strait JB et al. | 2009 | Trends in cardiovascular medicine |
| 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 |
| 19919681 | Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq. | Motallebipour M et al. | 2009 | Genome biology |
| 19951432 | Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. | Ronald J et al. | 2009 | Lipids in health and disease |
| 19955471 | Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. | Bressler J et al. | 2010 | American journal of epidemiology |
| 19956433 | Genetics of coronary artery disease: focus on genome-wide association studies. | Baudhuin LM et al. | 2009 | American journal of translational research |
| 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 |
| 20084173 | Magnitude of stratification in human populations and impacts on genome wide association studies. | Hao K et al. | 2010 | PloS one |
| 20339536 | Genome-wide association of lipid-lowering response to statins in combined study populations. | Barber MJ et al. | 2010 | PloS one |
| 20502693 | Genetics and beyond--the transcriptome of human monocytes and disease susceptibility. | Zeller T et al. | 2010 | PloS one |
| 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 |
| 20686566 | From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. | Musunuru K et al. | 2010 | Nature |
| 20729558 | Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies. | Davies RW et al. | 2010 | Circulation. Cardiovascular genetics |
| 20832063 | Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study. | Lu Y et al. | 2010 | Atherosclerosis |
| 20835900 | Genetics of diabetes complications. | Doria A et al. | 2010 | Current diabetes reports |
| 20971364 | A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. | Ripatti S et al. | 2010 | Lancet (London, England) |
| 21087763 | Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. | Carrasquillo MM et al. | 2010 | American journal of human genetics |
| 21178099 | SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. | Pegoraro E et al. | 2011 | Neurology |
| 21239051 | Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. | Reilly MP et al. | 2011 | Lancet (London, England) |
| 21242481 | Genetic risk score and risk of myocardial infarction in Hispanics. | Qi L et al. | 2011 | Circulation |
| 21297524 | The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations. | Devaney JM et al. | 2011 | Pediatric research |
| 21369780 | Genome-wide association studies in atherosclerosis. | Sivapalaratnam S et al. | 2011 | Current atherosclerosis reports |
| 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 |
| 21606135 | A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. | Wild PS et al. | 2011 | Circulation. Cardiovascular genetics |
| 21626010 | Human genetics as a tool to identify progranulin regulators. | Nicholson AM et al. | 2011 | Journal of molecular neuroscience |
| 21637794 | Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. | Innocenti F et al. | 2011 | PLoS 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 |
| 21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
| 21862702 | Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. | Calandra S et al. | 2011 | Journal of lipid research |
| 21867541 | Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk. | Simmons CR et al. | 2011 | Molecular neurodegeneration |
| 21875899 | Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. | Peden JF et al. | 2011 | Human molecular genetics |
| 21966275 | Large-scale gene-centric analysis identifies novel variants for coronary artery disease. | 2011 | PLoS genetics | |
| 22003152 | Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. | Grallert H et al. | 2012 | European heart journal |
| 22144573 | Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. | O'Donnell CJ et al. | 2011 | Circulation |
| 22152955 | Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies. | Qi L et al. | 2011 | Journal of the American College of Cardiology |
| 22216278 | Large scale association analysis identifies three susceptibility loci for coronary artery disease. | Saade S et al. | 2011 | PloS one |
| 22363065 | Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke? | Cheng YC et al. | 2012 | Stroke |
| 22425169 | Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. | Shirts BH et al. | 2012 | Atherosclerosis |
| 22429504 | Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece. | Yiannakouris N et al. | 2012 | Atherosclerosis |
| 22654721 | Recent insights into the involvement of progranulin in frontotemporal dementia. | Sun L et al. | 2011 | Current neuropharmacology |
| 22848412 | Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts. | Hughes MF et al. | 2012 | PloS one |
| 22882272 | Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke. | Heckman MG et al. | 2013 | European journal of neurology |
| 23067240 | Chromosome 1p13 genetic variants antagonize the risk of myocardial infarction associated with high ApoB serum levels. | Gigante B et al. | 2012 | BMC cardiovascular disorders |
| 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 |
| 23098650 | Impact of variants within seven candidate genes on statin treatment efficacy. | Vrablík M et al. | 2012 | Physiological research |
| 23100282 | Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. | Hopewell JC et al. | 2013 | European heart journal |
| 23398167 | Reduced serum progranulin level might be associated with Parkinson's disease risk. | Mateo I et al. | 2013 | European journal of neurology |
| 23468967 | Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies. | Bolton JL et al. | 2013 | PloS one |
| 23755065 | Mapping Novel Pathways in Cardiovascular Disease Using eQTL Data: The Past, Present, and Future of Gene Expression Analysis. | Gupta RM et al. | 2012 | Frontiers in genetics |
| 23964269 | The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms. | Lin WJ et al. | 2013 | Frontiers in endocrinology |
| 24270849 | Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. | Denny JC et al. | 2013 | Nature biotechnology |
| 24373676 | Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration. | McMillan CT et al. | 2014 | Neurobiology of aging |
| 24725463 | Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study. | Adams JN et al. | 2014 | Cardiovascular diabetology |
| 24728607 | Genetic variants in loci 1p13 and 9p21 and fatal coronary heart disease in a Norwegian case-cohort study. | Jansen MD et al. | 2014 | Molecular biology reports |
| 24771538 | Progranulin protein levels are differently regulated in plasma and CSF. | Nicholson AM et al. | 2014 | Neurology |
| 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) |
| 24991929 | Association of common genetic variants with lipid traits in the Indian population. | Walia GK et al. | 2014 | PloS one |
| 25042869 | SORT1 protective allele is associated with attenuated postprandial: lipaemia in young adults. | Connors KE et al. | 2014 | Circulation. Cardiovascular genetics |
| 25182463 | Metabolomics reveals the sex-specific effects of the SORT1 low-density lipoprotein cholesterol locus in healthy young adults. | Klein MS et al. | 2014 | Journal of proteome research |
| 26252781 | Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11. | Zanetti D et al. | 2015 | PloS one |
| 26345841 | Association between 1p13.3 genomic markers and coronary artery disease: a meta-analysis involving patients and controls. | Guo J et al. | 2015 | Genetics and molecular research |
| 26686871 | Non-response to (statin) therapy: the importance of distinguishing non-responders from non-adherers in pharmacogenetic studies. | Trompet S et al. | 2016 | European journal of clinical pharmacology |
| 26719772 | Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. | Tak YG et al. | 2015 | Epigenetics & chromatin |
| 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 |
| 26839654 | Genetics of coronary artery disease and myocardial infarction. | Dai X et al. | 2016 | World journal of cardiology |
| 26847647 | Experimental Biology for the Identification of Causal Pathways in Atherosclerosis. | Guo Y et al. | 2016 | Cardiovascular drugs and therapy |
| 26849123 | An Adaptive Ridge Procedure for L0 Regularization. | Frommlet F et al. | 2016 | PloS one |
| 26892960 | From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease. | Nurnberg ST et al. | 2016 | Circulation research |
| 26958643 | Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis. | Vargas JD et al. | 2016 | Data in brief |
| 27042264 | Genetics of cardiovascular and renal complications in diabetes. | Ma RC et al. | 2016 | Journal of diabetes investigation |
| 27112212 | Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II. | Shahid SU et al. | 2016 | Lipids in health and disease |
| 27286809 | Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. | Ligthart S et al. | 2016 | BMC genomics |
| 27294088 | Genetics of the acute coronary syndrome. | Franchini M et al. | 2016 | Annals of translational medicine |
| 27329260 | Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits. | Teumer A et al. | 2016 | Aging cell |
| 27392867 | A Genetic Variant of the Sortilin 1 Gene is Associated with Reduced Risk of Alzheimer's Disease. | Andersson CH et al. | 2016 | Journal of Alzheimer's disease |
| 27612602 | Soluble sortilin is present in excess and positively correlates with progranulin in CSF of aging individuals. | Molgaard S et al. | 2016 | Experimental gerontology |
| 27703466 | Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers. | Meeter LH et al. | 2016 | Dementia and geriatric cognitive disorders extra |
| 27716211 | A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics. | Beaney KE et al. | 2016 | Cardiovascular diabetology |
| 27943270 | A genetic risk score is significantly associated with statin therapy response in the elderly population. | Ciuculete DM et al. | 2017 | Clinical genetics |
| 28088267 | A meta-analysis of three identified single nucleotide polymorphisms at 1p13.3 and 1q41 and their associations with lipid levels and coronary artery disease. | He QC et al. | 2017 | The Kaohsiung journal of medical sciences |
| 28167353 | Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants. | Shahid SU et al. | 2017 | Atherosclerosis |
| 28379035 | Polygenic hypercholesterolemia: examples of GWAS results and their replication in the Czech-Slavonic population. | Hubacek JA et al. | 2017 | Physiological research |
| 28426714 | A genetic risk score for CAD, psychological stress, and their interaction as predictors of CAD, fatal MI, non-fatal MI and cardiovascular death. | Svensson T et al. | 2017 | PloS one |
| 28577571 | Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. | Paththinige CS et al. | 2017 | Lipids in health and disease |
| 28705542 | Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. | Ansari WM et al. | 2019 | Cytokine |
| 29356453 | Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes. | Qin J et al. | 2018 | Journal of diabetes investigation |
| 29575956 | Relation of locus 1p13 rs646776 polymorphism with the risk of preeclampsia. | Emam RH et al. | 2018 | Hypertension in pregnancy |
| 31249592 | The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2(nd) Trimester Lipid Levels and Preterm Birth. | Kovac U et al. | 2019 | Frontiers in genetics |
| 33235484 | Influence of PSRC1, CELSR2, and SORT1 Gene Polymorphisms on the Variability of Warfarin Dosage and Susceptibility to Cardiovascular Disease. | Al-Eitan LN et al. | 2020 | Pharmacogenomics and personalized medicine |
| 33296721 | Quantile-specific heritability of total cholesterol and its pharmacogenetic and nutrigenetic implications. | Williams PT et al. | 2021 | International journal of cardiology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
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.