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.
rs687289
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:133261703 (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
- A>C / A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.360890 (95524/264690, TOPMED)A=0.349446 (73130/209274, ALFA)A=0.375338 (52521/139930, GnomAD) (+ 4 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ABO : Intron Variant
- Publications
- 16 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 214310 | A=0.349806 | G=0.650194 |
| European | Sub | 187646 | A=0.348118 | G=0.651882 |
| African | Sub | 8902 | A=0.4234 | G=0.5766 |
| African Others | Sub | 324 | A=0.423 | G=0.577 |
| African American | Sub | 8578 | A=0.4234 | G=0.5766 |
| Asian | Sub | 3632 | A=0.4438 | G=0.5562 |
| East Asian | Sub | 2970 | A=0.4673 | G=0.5327 |
| Other Asian | Sub | 662 | A=0.338 | G=0.662 |
| Latin American 1 | Sub | 570 | A=0.365 | G=0.635 |
| Latin American 2 | Sub | 5272 | A=0.2244 | G=0.7756 |
| South Asian | Sub | 324 | A=0.423 | G=0.577 |
| Other | Sub | 7964 | A=0.3434 | G=0.6566 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.360890 | G=0.639110 |
| Allele Frequency Aggregator | Total | Global | 209274 | A=0.349446 | G=0.650554 |
| Allele Frequency Aggregator | European | Sub | 184552 | A=0.348130 | G=0.651870 |
| Allele Frequency Aggregator | African | Sub | 7760 | A=0.4205 | G=0.5795 |
| Allele Frequency Aggregator | Other | Sub | 7164 | A=0.3460 | G=0.6540 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5272 | A=0.2244 | G=0.7756 |
| Allele Frequency Aggregator | Asian | Sub | 3632 | A=0.4438 | G=0.5562 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 570 | A=0.365 | G=0.635 |
| Allele Frequency Aggregator | South Asian | Sub | 324 | A=0.423 | G=0.577 |
| gnomAD - Genomes | Global | Study-wide | 139930 | A=0.375338 | G=0.624662 |
| gnomAD - Genomes | European | Sub | 75804 | A=0.36453 | G=0.63547 |
| gnomAD - Genomes | African | Sub | 41886 | A=0.42131 | G=0.57869 |
| gnomAD - Genomes | American | Sub | 13654 | A=0.28380 | G=0.71620 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.4323 | G=0.5677 |
| gnomAD - Genomes | East Asian | Sub | 3118 | A=0.3778 | G=0.6222 |
| gnomAD - Genomes | Other | Sub | 2144 | A=0.3503 | G=0.6497 |
| The PAGE Study | Global | Study-wide | 78588 | A=0.36378 | G=0.63622 |
| The PAGE Study | AfricanAmerican | Sub | 32472 | A=0.42135 | G=0.57865 |
| The PAGE Study | Mexican | Sub | 10788 | A=0.24129 | G=0.75871 |
| The PAGE Study | Asian | Sub | 8304 | A=0.4381 | G=0.5619 |
| The PAGE Study | PuertoRican | Sub | 7910 | A=0.3080 | G=0.6920 |
| The PAGE Study | NativeHawaiian | Sub | 4530 | A=0.3700 | G=0.6300 |
| The PAGE Study | Cuban | Sub | 4222 | A=0.3494 | G=0.6506 |
| The PAGE Study | Dominican | Sub | 3824 | A=0.3444 | G=0.6556 |
| The PAGE Study | CentralAmerican | Sub | 2446 | A=0.2469 | G=0.7531 |
| The PAGE Study | SouthAmerican | Sub | 1978 | A=0.2300 | G=0.7700 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.2698 | G=0.7302 |
| The PAGE Study | SouthAsian | Sub | 854 | A=0.425 | G=0.575 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.43474 | G=0.56526 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.3802 | G=0.6198 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.4423 | G=0.5577 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.3720 | G=0.6280 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4027 | G=0.5973 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.3915 | G=0.6085 |
| 1000Genomes_30x | American | Sub | 980 | A=0.237 | G=0.763 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.5061 | C=0.0000 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.133261703A>C |
| GRCh38.p14 chr 9 | NC_000009.12:g.133261703A>G |
| GRCh37.p13 chr 9 | NC_000009.11:g.136137106G>A |
| GRCh37.p13 chr 9 | NC_000009.11:g.136137106G>C |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.18512T>G |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.18512T>C |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.87797A>C |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.87797A>G |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.87797A>C |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.87797A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ABO transcript variant A1.01 | NM_020469.3:c.99-329T>G | N/A | Intron Variant |
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.
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 | A= | C | G |
|---|---|---|---|
| GRCh38.p14 chr 9 | NC_000009.12:g.133261703= | NC_000009.12:g.133261703A>C | NC_000009.12:g.133261703A>G |
| GRCh37.p13 chr 9 | NC_000009.11:g.136137106G>A | NC_000009.11:g.136137106G>C | NC_000009.11:g.136137106= |
| ABO RefSeqGene (LRG_792) | NG_006669.2:g.18512= | NG_006669.2:g.18512T>G | NG_006669.2:g.18512T>C |
| GRCh38.p14 chr 9 fix patch HG2030_PATCH | NW_009646201.1:g.87797= | NW_009646201.1:g.87797A>C | NW_009646201.1:g.87797A>G |
| GRCh37.p13 chr 9 fix patch HG79_PATCH | NW_003315925.1:g.87797= | NW_003315925.1:g.87797A>C | NW_003315925.1:g.87797A>G |
| ABO transcript | NM_020469.2:c.99-329C>T | NM_020469.2:c.99-329C>G | NM_020469.2:c.99-329= |
| ABO transcript variant A1.01 | NM_020469.3:c.99-329= | NM_020469.3:c.99-329T>G | NM_020469.3:c.99-329T>C |
| ABO transcript variant X1 | XM_005276848.1:c.99-329= | XM_005276848.1:c.99-329T>G | XM_005276848.1:c.99-329T>C |
| ABO transcript variant X2 | XM_005276849.1:c.42-329= | XM_005276849.1:c.42-329T>G | XM_005276849.1:c.42-329T>C |
| ABO transcript variant X3 | XM_005276850.1:c.-245-329= | XM_005276850.1:c.-245-329T>G | XM_005276850.1:c.-245-329T>C |
| ABO transcript variant X4 | XM_005276851.1:c.-190-329= | XM_005276851.1:c.-190-329T>G | XM_005276851.1:c.-190-329T>C |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss860978 | Aug 11, 2000 (83) |
| 2 | YUSUKE | ss2988289 | Jun 15, 2001 (96) |
| 3 | HGBASE | ss3182772 | Aug 15, 2001 (98) |
| 4 | PGA-UW-FHCRC | ss8486941 | Aug 26, 2003 (117) |
| 5 | SC_SNP | ss12948326 | Dec 05, 2003 (119) |
| 6 | CSHL-HAPMAP | ss17251383 | Feb 27, 2004 (120) |
| 7 | SSAHASNP | ss22847470 | Apr 05, 2004 (121) |
| 8 | ABI | ss43781443 | Mar 15, 2006 (126) |
| 9 | 1000GENOMES | ss109116837 | Jan 23, 2009 (130) |
| 10 | ILLUMINA-UK | ss115811175 | Feb 14, 2009 (130) |
| 11 | GMI | ss158036255 | Dec 01, 2009 (131) |
| 12 | ILLUMINA | ss160819970 | Dec 01, 2009 (131) |
| 13 | ENSEMBL | ss161701554 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss174149238 | Jul 04, 2010 (132) |
| 15 | BUSHMAN | ss200966775 | Jul 04, 2010 (132) |
| 16 | 1000GENOMES | ss224489090 | Jul 14, 2010 (132) |
| 17 | 1000GENOMES | ss234995989 | Jul 15, 2010 (132) |
| 18 | 1000GENOMES | ss241740573 | Jul 15, 2010 (132) |
| 19 | GMI | ss280425588 | May 04, 2012 (137) |
| 20 | PJP | ss294384927 | May 09, 2011 (134) |
| 21 | ILLUMINA | ss410880839 | Sep 17, 2011 (135) |
| 22 | ILLUMINA | ss481384893 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss481411118 | May 04, 2012 (137) |
| 24 | ILLUMINA | ss482389725 | Sep 11, 2015 (146) |
| 25 | ILLUMINA | ss485487514 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss537404396 | Sep 11, 2015 (146) |
| 27 | TISHKOFF | ss561679713 | Apr 25, 2013 (138) |
| 28 | SSMP | ss656175908 | Apr 25, 2013 (138) |
| 29 | ILLUMINA | ss778583799 | Sep 11, 2015 (146) |
| 30 | ILLUMINA | ss783189281 | Sep 11, 2015 (146) |
| 31 | ILLUMINA | ss784144456 | Sep 11, 2015 (146) |
| 32 | ILLUMINA | ss832449055 | Sep 11, 2015 (146) |
| 33 | ILLUMINA | ss834040935 | Sep 11, 2015 (146) |
| 34 | EVA-GONL | ss987051922 | Apr 09, 2015 (144) |
| 35 | JMKIDD_LAB | ss1076660039 | Apr 09, 2015 (144) |
| 36 | 1000GENOMES | ss1335737044 | Aug 28, 2014 (142) |
| 37 | HAMMER_LAB | ss1397569303 | Sep 08, 2015 (146) |
| 38 | DDI | ss1431980460 | Apr 09, 2015 (144) |
| 39 | EVA_GENOME_DK | ss1583284701 | Apr 09, 2015 (144) |
| 40 | EVA_DECODE | ss1596698522 | Apr 01, 2015 (144) |
| 41 | EVA_UK10K_ALSPAC | ss1623713359 | Apr 09, 2015 (144) |
| 42 | EVA_UK10K_TWINSUK | ss1666707392 | Apr 09, 2015 (144) |
| 43 | ILLUMINA | ss1752764206 | Sep 11, 2015 (146) |
| 44 | HAMMER_LAB | ss1806192147 | Sep 11, 2015 (146) |
| 45 | WEILL_CORNELL_DGM | ss1930365764 | Feb 17, 2016 (147) |
| 46 | ILLUMINA | ss1946271497 | Feb 17, 2016 (147) |
| 47 | ILLUMINA | ss1959223695 | Feb 17, 2016 (147) |
| 48 | GENOMED | ss1971322597 | Sep 28, 2016 (149) |
| 49 | JJLAB | ss2025906495 | Sep 28, 2016 (149) |
| 50 | USC_VALOUEV | ss2154141624 | Oct 12, 2018 (152) |
| 51 | HUMAN_LONGEVITY | ss2315019245 | Dec 20, 2016 (150) |
| 52 | SYSTEMSBIOZJU | ss2627421531 | Oct 12, 2018 (152) |
| 53 | ILLUMINA | ss2634926221 | Oct 12, 2018 (152) |
| 54 | GRF | ss2710027002 | Oct 12, 2018 (152) |
| 55 | ILLUMINA | ss2711175030 | Oct 12, 2018 (152) |
| 56 | GNOMAD | ss2884018742 | Oct 12, 2018 (152) |
| 57 | AFFY | ss2986122599 | Oct 12, 2018 (152) |
| 58 | SWEGEN | ss3005708183 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3022973189 | Oct 12, 2018 (152) |
| 60 | BIOINF_KMB_FNS_UNIBA | ss3026735099 | Nov 08, 2017 (151) |
| 61 | CSHL | ss3348888654 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3625993653 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3630373745 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3632815084 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3633550686 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3634279860 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3635237133 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3635957451 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3636985776 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3637710844 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3638840685 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3640944422 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3645004832 | Oct 12, 2018 (152) |
| 74 | URBANLAB | ss3649254269 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3653529713 | Oct 12, 2018 (152) |
| 76 | EGCUT_WGS | ss3673246760 | Jul 13, 2019 (153) |
| 77 | EVA_DECODE | ss3724896344 | Jul 13, 2019 (153) |
| 78 | ILLUMINA | ss3726650407 | Jul 13, 2019 (153) |
| 79 | ACPOP | ss3736936054 | Jul 13, 2019 (153) |
| 80 | ILLUMINA | ss3744326492 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3745537030 | Jul 13, 2019 (153) |
| 82 | EVA | ss3769778071 | Jul 13, 2019 (153) |
| 83 | PAGE_CC | ss3771530908 | Jul 13, 2019 (153) |
| 84 | ILLUMINA | ss3773028802 | Jul 13, 2019 (153) |
| 85 | KHV_HUMAN_GENOMES | ss3812939124 | Jul 13, 2019 (153) |
| 86 | EVA | ss3831894807 | Apr 26, 2020 (154) |
| 87 | EVA | ss3839476278 | Apr 26, 2020 (154) |
| 88 | EVA | ss3844941633 | Apr 26, 2020 (154) |
| 89 | SGDP_PRJ | ss3873217791 | Apr 26, 2020 (154) |
| 90 | KRGDB | ss3921124067 | Apr 26, 2020 (154) |
| 91 | EVA | ss3984627213 | Apr 26, 2021 (155) |
| 92 | EVA | ss3985449426 | Apr 26, 2021 (155) |
| 93 | EVA | ss4017462847 | Apr 26, 2021 (155) |
| 94 | GNOMAD | ss4210661177 | Apr 26, 2021 (155) |
| 95 | TOPMED | ss4838098990 | Apr 26, 2021 (155) |
| 96 | TOMMO_GENOMICS | ss5195631903 | Apr 26, 2021 (155) |
| 97 | 1000G_HIGH_COVERAGE | ss5282430222 | Oct 13, 2022 (156) |
| 98 | EVA | ss5315438865 | Oct 13, 2022 (156) |
| 99 | EVA | ss5390718345 | Oct 13, 2022 (156) |
| 100 | HUGCELL_USP | ss5478271871 | Oct 13, 2022 (156) |
| 101 | EVA | ss5509868722 | Oct 13, 2022 (156) |
| 102 | 1000G_HIGH_COVERAGE | ss5575607395 | Oct 13, 2022 (156) |
| 103 | SANFORD_IMAGENETICS | ss5624732354 | Oct 13, 2022 (156) |
| 104 | SANFORD_IMAGENETICS | ss5648401862 | Oct 13, 2022 (156) |
| 105 | TOMMO_GENOMICS | ss5740272545 | Oct 13, 2022 (156) |
| 106 | EVA | ss5799798750 | Oct 13, 2022 (156) |
| 107 | EVA | ss5800060937 | Oct 13, 2022 (156) |
| 108 | YY_MCH | ss5811067383 | Oct 13, 2022 (156) |
| 109 | EVA | ss5829846006 | Oct 13, 2022 (156) |
| 110 | EVA | ss5847364620 | Oct 13, 2022 (156) |
| 111 | EVA | ss5848222716 | Oct 13, 2022 (156) |
| 112 | EVA | ss5856964762 | Oct 13, 2022 (156) |
| 113 | EVA | ss5918311761 | Oct 13, 2022 (156) |
| 114 | EVA | ss5977616662 | Oct 13, 2022 (156) |
| 115 | EVA | ss5979908698 | Oct 13, 2022 (156) |
| 116 | 1000Genomes_30x | NC_000009.12 - 133261703 | Oct 13, 2022 (156) |
| 117 | gnomAD - Genomes | NC_000009.12 - 133261703 | Apr 26, 2021 (155) |
| 118 | KOREAN population from KRGDB | NC_000009.11 - 136137106 | Apr 26, 2020 (154) |
| 119 | The PAGE Study | NC_000009.12 - 133261703 | Jul 13, 2019 (153) |
| 120 | 14KJPN | NC_000009.12 - 133261703 | Oct 13, 2022 (156) |
| 121 | TopMed | NC_000009.12 - 133261703 | Apr 26, 2021 (155) |
| 122 | ALFA | NC_000009.12 - 133261703 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs386605654 | Aug 21, 2014 (142) |
| rs796332269 | Sep 11, 2015 (146) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 28301461, ss3921124067 | NC_000009.11:136137105:G:C | NC_000009.12:133261702:A:C | (self) |
| ss109116837, ss115811175, ss200966775, ss280425588, ss294384927, ss481384893, ss1397569303, ss1596698522 | NC_000009.10:135126926:G:G | NC_000009.12:133261702:A:G | (self) |
| 28301461, ss224489090, ss234995989, ss241740573, ss481411118, ss482389725, ss485487514, ss537404396, ss561679713, ss656175908, ss778583799, ss783189281, ss784144456, ss832449055, ss834040935, ss987051922, ss1076660039, ss1335737044, ss1431980460, ss1583284701, ss1623713359, ss1666707392, ss1752764206, ss1806192147, ss1930365764, ss1946271497, ss1959223695, ss1971322597, ss2025906495, ss2154141624, ss2627421531, ss2634926221, ss2710027002, ss2711175030, ss2884018742, ss2986122599, ss3005708183, ss3022973189, ss3348888654, ss3625993653, ss3630373745, ss3632815084, ss3633550686, ss3634279860, ss3635237133, ss3635957451, ss3636985776, ss3637710844, ss3638840685, ss3640944422, ss3645004832, ss3653529713, ss3673246760, ss3736936054, ss3744326492, ss3745537030, ss3769778071, ss3773028802, ss3831894807, ss3839476278, ss3873217791, ss3921124067, ss3984627213, ss3985449426, ss4017462847, ss5195631903, ss5315438865, ss5390718345, ss5509868722, ss5624732354, ss5648401862, ss5799798750, ss5800060937, ss5829846006, ss5847364620, ss5848222716, ss5977616662, ss5979908698 | NC_000009.11:136137105:G:G | NC_000009.12:133261702:A:G | (self) |
| 63133330, 339699682, 752377, 74109649, 675476551, 11660012943, ss2315019245, ss3026735099, ss3649254269, ss3724896344, ss3726650407, ss3771530908, ss3812939124, ss3844941633, ss4210661177, ss4838098990, ss5282430222, ss5478271871, ss5575607395, ss5740272545, ss5811067383, ss5856964762, ss5918311761 | NC_000009.12:133261702:A:G | NC_000009.12:133261702:A:G | (self) |
| ss12948326, ss17251383, ss22847470 | NT_035014.3:2914045:G:G | NC_000009.12:133261702:A:G | (self) |
| ss860978, ss2988289, ss3182772, ss8486941, ss43781443, ss158036255, ss160819970, ss161701554, ss174149238, ss410880839 | NT_035014.4:2914045:G:G | NC_000009.12:133261702:A:G | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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 |
| 20103627 | Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium. | Wolpin BM et al. | 2010 | Cancer research |
| 20167578 | Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. | Barbalic M et al. | 2010 | Human molecular genetics |
| 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) |
| 21463476 | Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism. | Heit JA et al. | 2011 | Journal of thrombosis and haemostasis |
| 21633955 | ABO blood group and breast cancer incidence and survival. | Gates MA et al. | 2012 | International journal of cancer |
| 22291609 | A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. | Naitza S et al. | 2012 | PLoS genetics |
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.