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.
rs8176746
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:133255935 (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
- G>A / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.085606 (30509/356390, ALFA)T=0.105894 (28029/264690, TOPMED)T=0.110523 (15458/139862, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ABO : Missense Variant
- Publications
- 48 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 | 372778 | G=0.913804 | T=0.086196 |
| European | Sub | 314398 | G=0.922713 | T=0.077287 |
| African | Sub | 13886 | G=0.84387 | T=0.15613 |
| African Others | Sub | 510 | G=0.810 | T=0.190 |
| African American | Sub | 13376 | G=0.84517 | T=0.15483 |
| Asian | Sub | 6916 | G=0.8041 | T=0.1959 |
| East Asian | Sub | 4948 | G=0.7965 | T=0.2035 |
| Other Asian | Sub | 1968 | G=0.8232 | T=0.1768 |
| Latin American 1 | Sub | 1488 | G=0.8999 | T=0.1001 |
| Latin American 2 | Sub | 7246 | G=0.9420 | T=0.0580 |
| South Asian | Sub | 5222 | G=0.7388 | T=0.2612 |
| Other | Sub | 23622 | G=0.89937 | T=0.10063 |
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 | 356390 | G=0.914394 | T=0.085606 |
| Allele Frequency Aggregator | European | Sub | 304266 | G=0.922479 | T=0.077521 |
| Allele Frequency Aggregator | Other | Sub | 22176 | G=0.89917 | T=0.10083 |
| Allele Frequency Aggregator | African | Sub | 9076 | G=0.8460 | T=0.1540 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7246 | G=0.9420 | T=0.0580 |
| Allele Frequency Aggregator | Asian | Sub | 6916 | G=0.8041 | T=0.1959 |
| Allele Frequency Aggregator | South Asian | Sub | 5222 | G=0.7388 | T=0.2612 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1488 | G=0.8999 | T=0.1001 |
| TopMed | Global | Study-wide | 264690 | G=0.894106 | T=0.105894 |
| gnomAD - Genomes | Global | Study-wide | 139862 | G=0.889477 | T=0.110523 |
| gnomAD - Genomes | European | Sub | 75822 | G=0.91280 | T=0.08720 |
| gnomAD - Genomes | African | Sub | 41806 | G=0.84182 | T=0.15818 |
| gnomAD - Genomes | American | Sub | 13640 | G=0.92456 | T=0.07544 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.8651 | T=0.1349 |
| gnomAD - Genomes | East Asian | Sub | 3122 | G=0.8232 | T=0.1768 |
| gnomAD - Genomes | Other | Sub | 2150 | G=0.9051 | T=0.0949 |
| 14KJPN | JAPANESE | Study-wide | 28240 | G=0.82656 | T=0.17344 |
| 8.3KJPN | JAPANESE | Study-wide | 16742 | G=0.82660 | T=0.17340 |
| GO Exome Sequencing Project | Global | Study-wide | 12142 | G=0.89886 | T=0.10114 |
| GO Exome Sequencing Project | European American | Sub | 8250 | G=0.9259 | T=0.0741 |
| GO Exome Sequencing Project | African American | Sub | 3892 | G=0.8415 | T=0.1585 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.8471 | T=0.1529 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.8275 | T=0.1725 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.9155 | T=0.0845 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.7629 | T=0.2371 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.8034 | T=0.1966 |
| 1000Genomes_30x | American | Sub | 980 | G=0.950 | T=0.050 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.8472 | T=0.1528 |
| 1000Genomes | African | Sub | 1322 | G=0.8306 | T=0.1694 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.8065 | T=0.1935 |
| 1000Genomes | Europe | Sub | 1006 | G=0.9155 | T=0.0845 |
| 1000Genomes | South Asian | Sub | 978 | G=0.767 | T=0.233 |
| 1000Genomes | American | Sub | 694 | G=0.952 | T=0.048 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.8288 | T=0.1712 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9421 | T=0.0579 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9382 | T=0.0618 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | G=0.7766 | T=0.2234 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2082 | G=0.8549 | T=0.1451 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | G=0.797 | T=0.203 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.749 | T=0.251 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.897 | T=0.103 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.928 | T=0.072 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.851 | T=0.149 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.981 | T=0.019 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.94 | T=0.06 |
| Korean Genome Project | KOREAN | Study-wide | 1812 | G=0.7710 | T=0.2290 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.773 | T=0.227 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.773 | T=0.227 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.918 | T=0.082 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.944 | T=0.056 |
| FINRISK | Finnish from FINRISK project | Study-wide | 296 | G=0.878 | T=0.122 |
| Qatari | Global | Study-wide | 216 | G=0.921 | T=0.079 |
| SGDP_PRJ | Global | Study-wide | 148 | G=0.466 | T=0.534 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 98 | G=1.00 | T=0.00 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.93 | T=0.07 |
| Siberian | Global | Study-wide | 22 | G=0.45 | T=0.55 |
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 9 | NC_000009.12:g.133255935G>A |
| GRCh38.p14 chr 9 | NC_000009.12:g.133255935G>T |
| GRCh37.p13 chr 9 | NC_000009.11:g.136131322G>A |
| GRCh37.p13 chr 9 | NC_000009.11:g.136131322G>T |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.24281C>T |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.24281C>A |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.82028G>A |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.82028G>T |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.82028G>A |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.82028G>T |
Gene: ABO, ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ABO transcript variant A1.01 | NM_020469.3:c.796C>T | L [CTG] > L [TTG] | Coding Sequence Variant |
| histo-blood group ABO system transferase isoform A1.01 | NP_065202.2:p.Leu266= | L (Leu) > L (Leu) | Synonymous Variant |
| ABO transcript variant A1.01 | NM_020469.3:c.796C>A | L [CTG] > M [ATG] | Coding Sequence Variant |
| histo-blood group ABO system transferase isoform A1.01 | NP_065202.2:p.Leu266Met | L (Leu) > M (Met) | Missense 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: T (allele ID:
1688811
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000019310.4 | ABO blood group system | Affects |
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 | G= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.133255935= | NC_000009.12:g.133255935G>A | NC_000009.12:g.133255935G>T |
| GRCh37.p13 chr 9 | NC_000009.11:g.136131322= | NC_000009.11:g.136131322G>A | NC_000009.11:g.136131322G>T |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.24281= | NG_006669.2:g.24281C>T | NG_006669.2:g.24281C>A |
| ABO transcript variant A1.01 | NM_020469.3:c.796= | NM_020469.3:c.796C>T | NM_020469.3:c.796C>A |
| ABO transcript | NM_020469.2:c.796= | NM_020469.2:c.796C>T | NM_020469.2:c.796C>A |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.82028= | NW_009646201.1:g.82028G>A | NW_009646201.1:g.82028G>T |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.82028= | NW_003315925.1:g.82028G>A | NW_003315925.1:g.82028G>T |
| histo-blood group ABO system transferase isoform A1.01 | NP_065202.2:p.Leu266= | NP_065202.2:p.Leu266= | NP_065202.2:p.Leu266Met |
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#.
150 SubSNP,
27 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | PGA-UW-FHCRC | ss8487026 | Aug 27, 2003 (117) |
| 2 | APPLERA_GI | ss48424723 | Mar 14, 2006 (126) |
| 3 | ILLUMINA | ss65729796 | Oct 13, 2006 (127) |
| 4 | ILLUMINA | ss66596770 | Nov 29, 2006 (127) |
| 5 | ILLUMINA | ss67875532 | Nov 29, 2006 (127) |
| 6 | ILLUMINA | ss68018861 | Nov 29, 2006 (127) |
| 7 | ILLUMINA | ss70972403 | May 24, 2008 (130) |
| 8 | ILLUMINA | ss71583496 | May 16, 2007 (127) |
| 9 | AFFY | ss74812376 | Aug 16, 2007 (128) |
| 10 | ILLUMINA | ss74938978 | Dec 07, 2007 (129) |
| 11 | SI_EXO | ss76887838 | Dec 07, 2007 (129) |
| 12 | ILLUMINA | ss79282564 | Dec 15, 2007 (130) |
| 13 | KRIBB_YJKIM | ss84791543 | Dec 15, 2007 (130) |
| 14 | ILLUMINA-UK | ss115811138 | Feb 14, 2009 (130) |
| 15 | ILLUMINA | ss120036800 | Dec 01, 2009 (131) |
| 16 | ILLUMINA | ss122909300 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss154471159 | Dec 01, 2009 (131) |
| 18 | GMI | ss158036004 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss159645698 | Dec 01, 2009 (131) |
| 20 | ILLUMINA | ss160953575 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss172403271 | Jul 04, 2010 (132) |
| 22 | ILLUMINA | ss174732186 | Jul 04, 2010 (132) |
| 23 | 1000GENOMES | ss210866089 | Jul 14, 2010 (132) |
| 24 | 1000GENOMES | ss224489012 | Jul 14, 2010 (132) |
| 25 | 1000GENOMES | ss234995925 | Jul 15, 2010 (132) |
| 26 | 1000GENOMES | ss241740505 | Jul 15, 2010 (132) |
| 27 | GMI | ss280425526 | May 04, 2012 (137) |
| 28 | ILLUMINA | ss410955023 | Sep 17, 2011 (135) |
| 29 | ILLUMINA | ss481795619 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss481827964 | May 04, 2012 (137) |
| 31 | ILLUMINA | ss482789372 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss485692444 | May 04, 2012 (137) |
| 33 | EXOME_CHIP | ss491429758 | May 04, 2012 (137) |
| 34 | CLINSEQ_SNP | ss491945412 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss537559890 | Sep 08, 2015 (146) |
| 36 | TISHKOFF | ss561679644 | Apr 25, 2013 (138) |
| 37 | SSMP | ss656175830 | Apr 25, 2013 (138) |
| 38 | NHLBI-ESP | ss712915735 | Apr 25, 2013 (138) |
| 39 | ILLUMINA | ss778999131 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss780687056 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss783291806 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss783360599 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss784244406 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss825613082 | Jul 19, 2016 (147) |
| 45 | ILLUMINA | ss832553061 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss833156530 | Jul 13, 2019 (153) |
| 47 | ILLUMINA | ss834461469 | Sep 08, 2015 (146) |
| 48 | JMKIDD_LAB | ss974472917 | Aug 21, 2014 (142) |
| 49 | EVA-GONL | ss987051827 | Aug 21, 2014 (142) |
| 50 | JMKIDD_LAB | ss1067508634 | Aug 21, 2014 (142) |
| 51 | JMKIDD_LAB | ss1076659971 | Aug 21, 2014 (142) |
| 52 | 1000GENOMES | ss1335736807 | Aug 21, 2014 (142) |
| 53 | EVA_GENOME_DK | ss1583284638 | Apr 09, 2015 (144) |
| 54 | EVA_FINRISK | ss1584065407 | Apr 09, 2015 (144) |
| 55 | EVA_DECODE | ss1596698423 | Apr 01, 2015 (144) |
| 56 | EVA_UK10K_ALSPAC | ss1623713205 | Apr 09, 2015 (144) |
| 57 | EVA_UK10K_TWINSUK | ss1666707238 | Apr 09, 2015 (144) |
| 58 | EVA_EXAC | ss1689719932 | Apr 09, 2015 (144) |
| 59 | EVA_EXAC | ss1689719933 | Apr 09, 2015 (144) |
| 60 | EVA_MGP | ss1711241203 | Apr 09, 2015 (144) |
| 61 | EVA_SVP | ss1713146215 | Apr 01, 2015 (144) |
| 62 | ILLUMINA | ss1752764161 | Sep 08, 2015 (146) |
| 63 | ILLUMINA | ss1752764162 | Sep 08, 2015 (146) |
| 64 | ILLUMINA | ss1917842359 | Feb 12, 2016 (147) |
| 65 | WEILL_CORNELL_DGM | ss1930365659 | Feb 12, 2016 (147) |
| 66 | ILLUMINA | ss1946271465 | Feb 12, 2016 (147) |
| 67 | ILLUMINA | ss1959223627 | Feb 12, 2016 (147) |
| 68 | JJLAB | ss2025906418 | Sep 14, 2016 (149) |
| 69 | USC_VALOUEV | ss2154141541 | Dec 20, 2016 (150) |
| 70 | HUMAN_LONGEVITY | ss2315018805 | Dec 20, 2016 (150) |
| 71 | SYSTEMSBIOZJU | ss2627421474 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2634926192 | Nov 08, 2017 (151) |
| 73 | GRF | ss2710026927 | Nov 08, 2017 (151) |
| 74 | GNOMAD | ss2737967908 | Nov 08, 2017 (151) |
| 75 | GNOMAD | ss2748297805 | Nov 08, 2017 (151) |
| 76 | GNOMAD | ss2884018175 | Nov 08, 2017 (151) |
| 77 | AFFY | ss2985476690 | Nov 08, 2017 (151) |
| 78 | AFFY | ss2986122594 | Nov 08, 2017 (151) |
| 79 | SWEGEN | ss3005708058 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3022973106 | Nov 08, 2017 (151) |
| 81 | BIOINF_KMB_FNS_UNIBA | ss3026735037 | Nov 08, 2017 (151) |
| 82 | CSHL | ss3348888581 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss3630373680 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3630373681 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3632815063 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3633550672 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3634279842 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3635237088 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3635237089 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3635957434 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3636985747 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3637710826 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3638840632 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3639425773 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3639747034 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3640944377 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3640944378 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3643765319 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3645004801 | Oct 12, 2018 (152) |
| 100 | OMUKHERJEE_ADBS | ss3646399561 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3653529624 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3654241663 | Oct 12, 2018 (152) |
| 103 | EGCUT_WGS | ss3673246631 | Jul 13, 2019 (153) |
| 104 | EVA_DECODE | ss3724896201 | Jul 13, 2019 (153) |
| 105 | ILLUMINA | ss3726650361 | Jul 13, 2019 (153) |
| 106 | ACPOP | ss3736935966 | Jul 13, 2019 (153) |
| 107 | ILLUMINA | ss3744595268 | Jul 13, 2019 (153) |
| 108 | ILLUMINA | ss3745536986 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3745536987 | Jul 13, 2019 (153) |
| 110 | EVA | ss3769777952 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3773028758 | Jul 13, 2019 (153) |
| 112 | ILLUMINA | ss3773028759 | Jul 13, 2019 (153) |
| 113 | KHV_HUMAN_GENOMES | ss3812939012 | Jul 13, 2019 (153) |
| 114 | EVA | ss3824479404 | Apr 26, 2020 (154) |
| 115 | HGDP | ss3847965177 | Apr 26, 2020 (154) |
| 116 | SGDP_PRJ | ss3873217644 | Apr 26, 2020 (154) |
| 117 | KRGDB | ss3921123928 | Apr 26, 2020 (154) |
| 118 | KOGIC | ss3966911464 | Apr 26, 2020 (154) |
| 119 | FSA-LAB | ss3984433143 | Apr 26, 2021 (155) |
| 120 | FSA-LAB | ss3984433144 | Apr 26, 2021 (155) |
| 121 | EVA | ss3984627191 | Apr 26, 2021 (155) |
| 122 | EVA | ss3985449406 | Apr 26, 2021 (155) |
| 123 | EVA | ss3986048478 | Apr 26, 2021 (155) |
| 124 | EVA | ss3986466917 | Apr 26, 2021 (155) |
| 125 | TOPMED | ss4838097408 | Apr 26, 2021 (155) |
| 126 | TOMMO_GENOMICS | ss5195631653 | Apr 26, 2021 (155) |
| 127 | EVA | ss5237053371 | Apr 26, 2021 (155) |
| 128 | EVA | ss5237654010 | Oct 13, 2022 (156) |
| 129 | 1000G_HIGH_COVERAGE | ss5282430030 | Oct 13, 2022 (156) |
| 130 | TRAN_CS_UWATERLOO | ss5314426972 | Oct 13, 2022 (156) |
| 131 | EVA | ss5315438846 | Oct 13, 2022 (156) |
| 132 | EVA | ss5390718004 | Oct 13, 2022 (156) |
| 133 | HUGCELL_USP | ss5478271680 | Oct 13, 2022 (156) |
| 134 | EVA | ss5509868652 | Oct 13, 2022 (156) |
| 135 | 1000G_HIGH_COVERAGE | ss5575607122 | Oct 13, 2022 (156) |
| 136 | EVA | ss5624189056 | Oct 13, 2022 (156) |
| 137 | SANFORD_IMAGENETICS | ss5624732306 | Oct 13, 2022 (156) |
| 138 | SANFORD_IMAGENETICS | ss5648401726 | Oct 13, 2022 (156) |
| 139 | TOMMO_GENOMICS | ss5740272244 | Oct 13, 2022 (156) |
| 140 | EVA | ss5799798738 | Oct 13, 2022 (156) |
| 141 | YY_MCH | ss5811067292 | Oct 13, 2022 (156) |
| 142 | EVA | ss5829845887 | Oct 13, 2022 (156) |
| 143 | EVA | ss5847364609 | Oct 13, 2022 (156) |
| 144 | EVA | ss5848222660 | Oct 13, 2022 (156) |
| 145 | EVA | ss5848733851 | Oct 13, 2022 (156) |
| 146 | EVA | ss5856964694 | Oct 13, 2022 (156) |
| 147 | EVA | ss5918311516 | Oct 13, 2022 (156) |
| 148 | EVA | ss5977616510 | Oct 13, 2022 (156) |
| 149 | EVA | ss5979908647 | Oct 13, 2022 (156) |
| 150 | EVA | ss5981257429 | Oct 13, 2022 (156) |
| 151 | 1000Genomes | NC_000009.11 - 136131322 | Oct 12, 2018 (152) |
| 152 | 1000Genomes_30x | NC_000009.12 - 133255935 | Oct 13, 2022 (156) |
| 153 | The Avon Longitudinal Study of Parents and Children | NC_000009.11 - 136131322 | Oct 12, 2018 (152) |
| 154 | Genetic variation in the Estonian population | NC_000009.11 - 136131322 | Oct 12, 2018 (152) |
| 155 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 156 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 157 | FINRISK | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 158 | The Danish reference pan genome | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 159 | gnomAD - Genomes | NC_000009.12 - 133255935 | Apr 26, 2021 (155) |
| 160 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 161 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 162 | GO Exome Sequencing Project | NC_000009.11 - 136131322 | Oct 12, 2018 (152) |
| 163 | HGDP-CEPH-db Supplement 1 | NC_000009.10 - 135121143 | Apr 26, 2020 (154) |
| 164 | KOREAN population from KRGDB | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 165 | Korean Genome Project | NC_000009.12 - 133255935 | Apr 26, 2020 (154) |
| 166 | Medical Genome Project healthy controls from Spanish population | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 167 | Northern Sweden | NC_000009.11 - 136131322 | Jul 13, 2019 (153) |
| 168 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000009.11 - 136131322 | Apr 26, 2021 (155) |
| 169 | CNV burdens in cranial meningiomas | NC_000009.11 - 136131322 | Apr 26, 2021 (155) |
| 170 | Qatari | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 171 | SGDP_PRJ | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 172 | Siberian | NC_000009.11 - 136131322 | Apr 26, 2020 (154) |
| 173 | 8.3KJPN | NC_000009.11 - 136131322 | Apr 26, 2021 (155) |
| 174 | 14KJPN | NC_000009.12 - 133255935 | Oct 13, 2022 (156) |
| 175 | TopMed | NC_000009.12 - 133255935 | Apr 26, 2021 (155) |
| 176 | UK 10K study - Twins | NC_000009.11 - 136131322 | Oct 12, 2018 (152) |
| 177 | ALFA | NC_000009.12 - 133255935 | Apr 26, 2021 (155) |
| 178 | ClinVar | RCV000019310.4 | Oct 13, 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) |
|---|---|
| rs52812928 | Sep 21, 2007 (128) |
| rs58313875 | May 24, 2008 (130) |
| rs386615834 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss1689719933, ss2737967908 | NC_000009.11:136131321:G:A | NC_000009.12:133255934:G:A | (self) |
| ss3639425773, ss3639747034 | NC_000009.9:133160875:G:T | NC_000009.12:133255934:G:T | (self) |
| 643069, ss115811138, ss210866089, ss280425526, ss481795619, ss491945412, ss825613082, ss1596698423, ss1713146215, ss3643765319, ss3847965177 | NC_000009.10:135121142:G:T | NC_000009.12:133255934:G:T | (self) |
| 48065088, 26714530, 18984879, 61868, 9449575, 937139, 28301322, 356963, 10220831, 675333, 176644, 12407589, 25234624, 6657895, 53600960, 26714530, ss224489012, ss234995925, ss241740505, ss481827964, ss482789372, ss485692444, ss491429758, ss537559890, ss561679644, ss656175830, ss712915735, ss778999131, ss780687056, ss783291806, ss783360599, ss784244406, ss832553061, ss833156530, ss834461469, ss974472917, ss987051827, ss1067508634, ss1076659971, ss1335736807, ss1583284638, ss1584065407, ss1623713205, ss1666707238, ss1689719932, ss1711241203, ss1752764161, ss1752764162, ss1917842359, ss1930365659, ss1946271465, ss1959223627, ss2025906418, ss2154141541, ss2627421474, ss2634926192, ss2710026927, ss2737967908, ss2748297805, ss2884018175, ss2985476690, ss2986122594, ss3005708058, ss3022973106, ss3348888581, ss3630373680, ss3630373681, ss3632815063, ss3633550672, ss3634279842, ss3635237088, ss3635237089, ss3635957434, ss3636985747, ss3637710826, ss3638840632, ss3640944377, ss3640944378, ss3645004801, ss3646399561, ss3653529624, ss3654241663, ss3673246631, ss3736935966, ss3744595268, ss3745536986, ss3745536987, ss3769777952, ss3773028758, ss3773028759, ss3824479404, ss3873217644, ss3921123928, ss3984433143, ss3984433144, ss3984627191, ss3985449406, ss3986048478, ss3986466917, ss5195631653, ss5315438846, ss5390718004, ss5509868652, ss5624189056, ss5624732306, ss5648401726, ss5799798738, ss5829845887, ss5847364609, ss5848222660, ss5848733851, ss5977616510, ss5979908647, ss5981257429 | NC_000009.11:136131321:G:T | NC_000009.12:133255934:G:T | (self) |
| RCV000019310.4, 63133057, 339698401, 23289465, 74109348, 675474969, 10386753990, ss2315018805, ss3026735037, ss3724896201, ss3726650361, ss3812939012, ss3966911464, ss4838097408, ss5237053371, ss5237654010, ss5282430030, ss5314426972, ss5478271680, ss5575607122, ss5740272244, ss5811067292, ss5856964694, ss5918311516 | NC_000009.12:133255934:G:T | NC_000009.12:133255934:G:T | (self) |
| ss8487026, ss48424723, ss65729796, ss66596770, ss67875532, ss68018861, ss70972403, ss71583496, ss74812376, ss74938978, ss76887838, ss79282564, ss84791543, ss120036800, ss122909300, ss154471159, ss158036004, ss159645698, ss160953575, ss172403271, ss174732186, ss410955023 | NT_035014.4:2908261:G:T | NC_000009.12:133255934:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
48
citations for rs8176746
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18464913 | A genome-wide association study identifies protein quantitative trait loci (pQTLs). | Melzer D et al. | 2008 | PLoS genetics |
| 18604267 | Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. | Paré G et al. | 2008 | PLoS genetics |
| 19729612 | Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. | Paterson AD et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
| 20066004 | A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor. | Chung CM et al. | 2010 | The pharmacogenomics journal |
| 20103627 | Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium. | Wolpin BM et al. | 2010 | Cancer research |
| 20459687 | Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. | Eid NA et al. | 2010 | Malaria journal |
| 20971884 | Variant ABO blood group alleles, secretor status, and risk of pancreatic cancer: results from the pancreatic cancer cohort consortium. | Wolpin BM et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21257350 | DNA-based methods in the immunohematology reference laboratory. | Reid ME et al. | 2011 | Transfusion and apheresis science |
| 21306478 | ABO blood group alleles and the risk of pancreatic cancer in a Japanese population. | Nakao M et al. | 2011 | Cancer science |
| 21546496 | Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children. | Guerrero JA et al. | 2011 | Haematologica |
| 21633955 | ABO blood group and breast cancer incidence and survival. | Gates MA et al. | 2012 | International journal of cancer |
| 21680535 | ABO genotype and the risk of gastric cancer, atrophic gastritis, and Helicobacter pylori infection. | Nakao M et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21792085 | ABO blood group and chronic pancreatitis risk in the NAPS2 cohort. | Greer JB et al. | 2011 | Pancreas |
| 21810271 | Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. | Antoni G et al. | 2011 | BMC medical genetics |
| 21832968 | Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes. | Mas S et al. | 2011 | Pharmacogenetics and genomics |
| 21867552 | Host candidate gene polymorphisms and clearance of drug-resistant Plasmodium falciparum parasites. | Diakite M et al. | 2011 | Malaria journal |
| 22258027 | A common variant of the ABO gene protects against hypertension in a Spanish population. | Gassó P et al. | 2012 | Hypertension research |
| 22615793 | Investigation of host candidate malaria-associated risk/protective SNPs in a Brazilian Amazonian population. | da Silva Santos S et al. | 2012 | PloS one |
| 22957039 | Candidate polymorphisms and severe malaria in a Malian population. | Toure O et al. | 2012 | PloS one |
| 22963146 | Association between the ABO locus and hematological traits in Korean. | Hong KW et al. | 2012 | BMC genetics |
| 23133757 | ABO Blood Groups and Cardiovascular Diseases. | Zhang H et al. | 2012 | International journal of vascular medicine |
| 24586218 | Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme. | 2014 | PloS one | |
| 24743543 | Rs495828 polymorphism of the ABO gene is a predictor of enalapril-induced cough in Chinese patients with essential hypertension. | Luo JQ et al. | 2014 | Pharmacogenetics and genomics |
| 24934404 | Association of candidate gene polymorphisms and TGF-beta/IL-10 levels with malaria in three regions of Cameroon: a case-control study. | Apinjoh TO et al. | 2014 | Malaria journal |
| 24941225 | Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. | Liang Y et al. | 2014 | PloS one |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25552591 | Genome-wide association study for endothelial growth factors. | Lieb W et al. | 2015 | Circulation. Cardiovascular genetics |
| 25805752 | USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania. | Manjurano A et al. | 2015 | The Journal of infectious diseases |
| 25978647 | ABO Blood Type and Personality Traits in Healthy Japanese Subjects. | Tsuchimine S et al. | 2015 | PloS one |
| 26268879 | ABO blood group alleles and prostate cancer risk: Results from the breast and prostate cancer cohort consortium (BPC3). | Markt SC et al. | 2015 | The Prostate |
| 26632894 | Association of ABO and Colton Blood Group Gene Polymorphisms With Hematological Traits Variation. | Shahbazi S et al. | 2015 | Medicine |
| 26744416 | Environmental Correlation Analysis for Genes Associated with Protection against Malaria. | Mackinnon MJ et al. | 2016 | Molecular biology and evolution |
| 27196462 | Familial Clustering of Gastric Cancer: A Retrospective Study Based on the Number of First-Degree Relatives. | Choi YJ et al. | 2016 | Medicine |
| 27280446 | Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. | McLachlan S et al. | 2016 | PloS one |
| 29290540 | ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia. | Paquette M et al. | 2018 | Journal of clinical lipidology |
| 29659952 | ABO Genotype Does Not Modify the Association between the "Blood-Type" Diet and Biomarkers of Cardiometabolic Disease in Overweight Adults. | Wang J et al. | 2018 | The Journal of nutrition |
| 29800239 | Pancreatic cancer risk is modulated by inflammatory potential of diet and ABO genotype: a consortia-based evaluation and replication study. | Antwi SO et al. | 2018 | Carcinogenesis |
| 31969017 | Genetically Determined ABO Blood Group and its Associations With Health and Disease. | Groot HE et al. | 2020 | Arteriosclerosis, thrombosis, and vascular biology |
| 32899439 | Genetic Hypothesis and Pharmacogenetics Side of Renin-Angiotensin-System in COVID-19. | Gemmati D et al. | 2020 | Genes |
| 33103040 | Allelic distribution of ABO gene in Chinese centenarians. | Zhu Y et al. | 2020 | Aging medicine (Milton (N.S.W)) |
| 33201886 | Clinical, regional, and genetic characteristics of Covid-19 patients from UK Biobank. | Kolin DA et al. | 2020 | PloS one |
| 33574314 | Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. | Wei CY et al. | 2021 | NPJ genomic medicine |
| 33659002 | The Genetics of Human Schistosomiasis Infection Intensity and Liver Disease: A Review. | Mewamba EM et al. | 2021 | Frontiers in immunology |
| 33721783 | The association between genetically determined ABO blood types and major depressive disorder. | Garvert L et al. | 2021 | Psychiatry research |
| 33894687 | ABO blood groups, COVID-19 infection and mortality. | Lehrer S et al. | 2021 | Blood cells, molecules & diseases |
| 34215818 | Blood group AB increases risk for surgical necrotizing enterocolitis and focal intestinal perforation in preterm infants with very low birth weight. | Martynov I et al. | 2021 | Scientific reports |
| 34459509 | Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis. | Ken-Dror G et al. | 2021 | Annals of neurology |
| 35454075 | The rs8176740 T/A and rs512770 T/C Genetic Variants of the ABO Gene Increased the Risk of COVID-19, as well as the Plasma Concentration Platelets. | Vargas-Alarcón G et al. | 2022 | Biomolecules |
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.