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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.

rs8176704

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:133260148 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.055446 (14676/264690, TOPMED)
A=0.063042 (8840/140224, GnomAD)
A=0.062028 (7478/120558, ALFA) (+ 16 more)
A=0.04362 (3433/78700, PAGE_STUDY)
A=0.0470 (301/6404, 1000G_30x)
A=0.0463 (232/5008, 1000G)
A=0.0580 (260/4480, Estonian)
A=0.0724 (279/3854, ALSPAC)
A=0.0701 (260/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.0298 (62/2084, HGDP_Stanford)
A=0.085 (85/998, GoNL)
A=0.143 (86/600, NorthernSweden)
A=0.125 (27/216, Qatari)
A=0.037 (4/108, Ancient Sardinia)
A=0.07 (3/40, GENOME_DK)
G=0.46 (13/28, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABO : Intron Variant
Publications
15 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 120558 G=0.937972 A=0.062028
European Sub 104506 G=0.935908 A=0.064092
African Sub 4418 G=0.9459 A=0.0541
African Others Sub 150 G=0.933 A=0.067
African American Sub 4268 G=0.9463 A=0.0537
Asian Sub 456 G=1.000 A=0.000
East Asian Sub 388 G=1.000 A=0.000
Other Asian Sub 68 G=1.00 A=0.00
Latin American 1 Sub 370 G=0.951 A=0.049
Latin American 2 Sub 5544 G=0.9677 A=0.0323
South Asian Sub 170 G=0.953 A=0.047
Other Sub 5094 G=0.9340 A=0.0660


Help

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 G=0.944554 A=0.055446
gnomAD - Genomes Global Study-wide 140224 G=0.936958 A=0.063042
gnomAD - Genomes European Sub 75916 G=0.92556 A=0.07444
gnomAD - Genomes African Sub 42046 G=0.94546 A=0.05454
gnomAD - Genomes American Sub 13662 G=0.95901 A=0.04099
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9337 A=0.0663
gnomAD - Genomes East Asian Sub 3130 G=0.9994 A=0.0006
gnomAD - Genomes Other Sub 2152 G=0.9470 A=0.0530
Allele Frequency Aggregator Total Global 120558 G=0.937972 A=0.062028
Allele Frequency Aggregator European Sub 104506 G=0.935908 A=0.064092
Allele Frequency Aggregator Latin American 2 Sub 5544 G=0.9677 A=0.0323
Allele Frequency Aggregator Other Sub 5094 G=0.9340 A=0.0660
Allele Frequency Aggregator African Sub 4418 G=0.9459 A=0.0541
Allele Frequency Aggregator Asian Sub 456 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 370 G=0.951 A=0.049
Allele Frequency Aggregator South Asian Sub 170 G=0.953 A=0.047
The PAGE Study Global Study-wide 78700 G=0.95638 A=0.04362
The PAGE Study AfricanAmerican Sub 32516 G=0.94455 A=0.05545
The PAGE Study Mexican Sub 10808 G=0.96604 A=0.03396
The PAGE Study Asian Sub 8318 G=0.9993 A=0.0007
The PAGE Study PuertoRican Sub 7918 G=0.9423 A=0.0577
The PAGE Study NativeHawaiian Sub 4534 G=0.9744 A=0.0256
The PAGE Study Cuban Sub 4230 G=0.9411 A=0.0589
The PAGE Study Dominican Sub 3828 G=0.9551 A=0.0449
The PAGE Study CentralAmerican Sub 2450 G=0.9645 A=0.0355
The PAGE Study SouthAmerican Sub 1982 G=0.9657 A=0.0343
The PAGE Study NativeAmerican Sub 1260 G=0.9389 A=0.0611
The PAGE Study SouthAsian Sub 856 G=0.964 A=0.036
1000Genomes_30x Global Study-wide 6404 G=0.9530 A=0.0470
1000Genomes_30x African Sub 1786 G=0.9451 A=0.0549
1000Genomes_30x Europe Sub 1266 G=0.9021 A=0.0979
1000Genomes_30x South Asian Sub 1202 G=0.9684 A=0.0316
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.958 A=0.042
1000Genomes Global Study-wide 5008 G=0.9537 A=0.0463
1000Genomes African Sub 1322 G=0.9440 A=0.0560
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9036 A=0.0964
1000Genomes South Asian Sub 978 G=0.968 A=0.032
1000Genomes American Sub 694 G=0.957 A=0.043
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9420 A=0.0580
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9276 A=0.0724
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9299 A=0.0701
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9993 A=0.0007
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.9702 A=0.0298
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.998 A=0.002
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.969 A=0.031
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.957 A=0.043
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.928 A=0.072
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.959 A=0.041
HGDP-CEPH-db Supplement 1 America Sub 216 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.915 A=0.085
Northern Sweden ACPOP Study-wide 600 G=0.857 A=0.143
Qatari Global Study-wide 216 G=0.875 A=0.125
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 108 G=0.963 A=0.037
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
SGDP_PRJ Global Study-wide 28 G=0.46 A=0.54
Siberian Global Study-wide 2 G=0.5 A=0.5
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.133260148G>A
GRCh37.p13 chr 9 NC_000009.11:g.136135552G>A
ABO RefSeqGene (LRG_792) NG_006669.2:g.20067C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.86242G>A
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.86242G>A
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.156-282C>T N/A Intron 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 G= A
GRCh38.p14 chr 9 NC_000009.12:g.133260148= NC_000009.12:g.133260148G>A
GRCh37.p13 chr 9 NC_000009.11:g.136135552= NC_000009.11:g.136135552G>A
ABO RefSeqGene (LRG_792) NG_006669.2:g.20067= NG_006669.2:g.20067C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.86242= NW_009646201.1:g.86242G>A
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.86242= NW_003315925.1:g.86242G>A
ABO transcript NM_020469.2:c.156-282= NM_020469.2:c.156-282C>T
ABO transcript variant A1.01 NM_020469.3:c.156-282= NM_020469.3:c.156-282C>T
ABO transcript variant X1 XM_005276848.1:c.156-282= XM_005276848.1:c.156-282C>T
ABO transcript variant X2 XM_005276849.1:c.99-282= XM_005276849.1:c.99-282C>T
ABO transcript variant X3 XM_005276850.1:c.-188-282= XM_005276850.1:c.-188-282C>T
ABO transcript variant X4 XM_005276851.1:c.-133-282= XM_005276851.1:c.-133-282C>T
ABO transcript variant X5 XM_005276852.1:c.-86+1170= XM_005276852.1:c.-86+1170C>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#.

98 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss8486958 Aug 27, 2003 (117)
2 ABI ss43366414 Mar 13, 2006 (126)
3 ILLUMINA ss67875530 Nov 29, 2006 (127)
4 ILLUMINA ss68018858 Nov 29, 2006 (127)
5 ILLUMINA ss68296405 Dec 12, 2006 (127)
6 ILLUMINA ss70972402 May 23, 2008 (130)
7 ILLUMINA ss71583493 May 16, 2007 (127)
8 ILLUMINA ss75839967 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss84791539 Dec 14, 2007 (130)
10 1000GENOMES ss109116797 Jan 23, 2009 (130)
11 ILLUMINA ss154471158 Dec 01, 2009 (131)
12 ILLUMINA ss159645697 Dec 01, 2009 (131)
13 ILLUMINA ss160953559 Dec 01, 2009 (131)
14 ILLUMINA ss174732117 Jul 04, 2010 (132)
15 1000GENOMES ss224489075 Jul 14, 2010 (132)
16 1000GENOMES ss234995978 Jul 15, 2010 (132)
17 ILLUMINA ss244312810 Jul 04, 2010 (132)
18 ILLUMINA ss481795591 May 04, 2012 (137)
19 ILLUMINA ss481827936 May 04, 2012 (137)
20 ILLUMINA ss482789324 Sep 11, 2015 (146)
21 ILLUMINA ss485692430 May 04, 2012 (137)
22 ILLUMINA ss537559879 Sep 11, 2015 (146)
23 ILLUMINA ss778999127 Sep 11, 2015 (146)
24 ILLUMINA ss783291799 Sep 11, 2015 (146)
25 ILLUMINA ss784244401 Sep 11, 2015 (146)
26 ILLUMINA ss832553054 Sep 11, 2015 (146)
27 ILLUMINA ss833156529 Jul 13, 2019 (153)
28 ILLUMINA ss834461465 Sep 11, 2015 (146)
29 EVA-GONL ss987051904 Apr 09, 2015 (144)
30 JMKIDD_LAB ss1076660022 Apr 09, 2015 (144)
31 1000GENOMES ss1335736996 Aug 28, 2014 (142)
32 DDI ss1431980450 Apr 09, 2015 (144)
33 EVA_GENOME_DK ss1583284688 Apr 09, 2015 (144)
34 EVA_DECODE ss1596698502 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1623713323 Apr 09, 2015 (144)
36 EVA_UK10K_TWINSUK ss1666707356 Apr 09, 2015 (144)
37 EVA_SVP ss1713146230 Apr 01, 2015 (144)
38 ILLUMINA ss1752764200 Sep 11, 2015 (146)
39 HAMMER_LAB ss1806192136 Sep 11, 2015 (146)
40 WEILL_CORNELL_DGM ss1930365746 Feb 17, 2016 (147)
41 ILLUMINA ss1959223690 Feb 17, 2016 (147)
42 JJLAB ss2025906482 Sep 28, 2016 (149)
43 USC_VALOUEV ss2154141609 Oct 12, 2018 (152)
44 HUMAN_LONGEVITY ss2315019143 Dec 20, 2016 (150)
45 ILLUMINA ss2634926212 Oct 12, 2018 (152)
46 GNOMAD ss2884018627 Oct 12, 2018 (152)
47 AFFY ss2986122597 Oct 12, 2018 (152)
48 SWEGEN ss3005708159 Oct 12, 2018 (152)
49 ILLUMINA ss3022973179 Oct 12, 2018 (152)
50 BIOINF_KMB_FNS_UNIBA ss3026735089 Nov 08, 2017 (151)
51 CSHL ss3348888642 Oct 12, 2018 (152)
52 ILLUMINA ss3630373730 Oct 12, 2018 (152)
53 ILLUMINA ss3632815077 Oct 12, 2018 (152)
54 ILLUMINA ss3633550683 Oct 12, 2018 (152)
55 ILLUMINA ss3634279857 Oct 12, 2018 (152)
56 ILLUMINA ss3635237127 Oct 12, 2018 (152)
57 ILLUMINA ss3635957448 Oct 12, 2018 (152)
58 ILLUMINA ss3636985772 Oct 12, 2018 (152)
59 ILLUMINA ss3637710841 Oct 12, 2018 (152)
60 ILLUMINA ss3638840675 Oct 12, 2018 (152)
61 ILLUMINA ss3639425776 Oct 12, 2018 (152)
62 ILLUMINA ss3640003486 Oct 12, 2018 (152)
63 ILLUMINA ss3640944416 Oct 12, 2018 (152)
64 ILLUMINA ss3643765332 Oct 12, 2018 (152)
65 ILLUMINA ss3644046106 Oct 12, 2018 (152)
66 URBANLAB ss3649254264 Oct 12, 2018 (152)
67 ILLUMINA ss3653529701 Oct 12, 2018 (152)
68 EGCUT_WGS ss3673246739 Jul 13, 2019 (153)
69 EVA_DECODE ss3724896319 Jul 13, 2019 (153)
70 ILLUMINA ss3726650398 Jul 13, 2019 (153)
71 ACPOP ss3736936039 Jul 13, 2019 (153)
72 ILLUMINA ss3745537024 Jul 13, 2019 (153)
73 EVA ss3769778044 Jul 13, 2019 (153)
74 PAGE_CC ss3771530904 Jul 13, 2019 (153)
75 ILLUMINA ss3773028796 Jul 13, 2019 (153)
76 KHV_HUMAN_GENOMES ss3812939107 Jul 13, 2019 (153)
77 EVA ss3831894794 Apr 26, 2020 (154)
78 HGDP ss3847965182 Apr 26, 2020 (154)
79 SGDP_PRJ ss3873217764 Apr 26, 2020 (154)
80 KRGDB ss3921124029 Apr 26, 2020 (154)
81 EVA ss3985449421 Apr 26, 2021 (155)
82 EVA ss4017462837 Apr 26, 2021 (155)
83 GNOMAD ss4210660887 Apr 26, 2021 (155)
84 TOPMED ss4838098617 Apr 26, 2021 (155)
85 1000G_HIGH_COVERAGE ss5282430191 Oct 13, 2022 (156)
86 EVA ss5390718263 Oct 13, 2022 (156)
87 HUGCELL_USP ss5478271834 Oct 13, 2022 (156)
88 EVA ss5509868709 Oct 13, 2022 (156)
89 1000G_HIGH_COVERAGE ss5575607342 Oct 13, 2022 (156)
90 SANFORD_IMAGENETICS ss5624732344 Oct 13, 2022 (156)
91 SANFORD_IMAGENETICS ss5648401834 Oct 13, 2022 (156)
92 EVA ss5800060928 Oct 13, 2022 (156)
93 EVA ss5829845984 Oct 13, 2022 (156)
94 EVA ss5847364618 Oct 13, 2022 (156)
95 EVA ss5848222712 Oct 13, 2022 (156)
96 EVA ss5918311712 Oct 13, 2022 (156)
97 EVA ss5977616633 Oct 13, 2022 (156)
98 EVA ss5979908695 Oct 13, 2022 (156)
99 1000Genomes NC_000009.11 - 136135552 Oct 12, 2018 (152)
100 1000Genomes_30x NC_000009.12 - 133260148 Oct 13, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 136135552 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000009.11 - 136135552 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000009.11 - 136135552 Apr 26, 2020 (154)
104 gnomAD - Genomes NC_000009.12 - 133260148 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000009.11 - 136135552 Apr 26, 2020 (154)
106 HGDP-CEPH-db Supplement 1 NC_000009.10 - 135125373 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000009.11 - 136135552 Apr 26, 2020 (154)
108 Northern Sweden NC_000009.11 - 136135552 Jul 13, 2019 (153)
109 The PAGE Study NC_000009.12 - 133260148 Jul 13, 2019 (153)
110 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 136135552 Apr 26, 2021 (155)
111 Qatari NC_000009.11 - 136135552 Apr 26, 2020 (154)
112 SGDP_PRJ NC_000009.11 - 136135552 Apr 26, 2020 (154)
113 Siberian NC_000009.11 - 136135552 Apr 26, 2020 (154)
114 TopMed NC_000009.12 - 133260148 Apr 26, 2021 (155)
115 UK 10K study - Twins NC_000009.11 - 136135552 Oct 12, 2018 (152)
116 ALFA NC_000009.12 - 133260148 Apr 26, 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)
rs57112829 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639425776, ss3640003486, ss3644046106 NC_000009.9:133165105:G:A NC_000009.12:133260147:G:A (self)
643074, ss109116797, ss481795591, ss1596698502, ss1713146230, ss3643765332, ss3847965182 NC_000009.10:135125372:G:A NC_000009.12:133260147:G:A (self)
48065282, 26714655, 18984987, 9449625, 11914099, 28301423, 10220904, 675348, 12407676, 25234744, 6657963, 26714655, ss224489075, ss234995978, ss481827936, ss482789324, ss485692430, ss537559879, ss778999127, ss783291799, ss784244401, ss832553054, ss833156529, ss834461465, ss987051904, ss1076660022, ss1335736996, ss1431980450, ss1583284688, ss1623713323, ss1666707356, ss1752764200, ss1806192136, ss1930365746, ss1959223690, ss2025906482, ss2154141609, ss2634926212, ss2884018627, ss2986122597, ss3005708159, ss3022973179, ss3348888642, ss3630373730, ss3632815077, ss3633550683, ss3634279857, ss3635237127, ss3635957448, ss3636985772, ss3637710841, ss3638840675, ss3640944416, ss3653529701, ss3673246739, ss3736936039, ss3745537024, ss3769778044, ss3773028796, ss3831894794, ss3873217764, ss3921124029, ss3985449421, ss4017462837, ss5390718263, ss5509868709, ss5624732344, ss5648401834, ss5800060928, ss5829845984, ss5847364618, ss5848222712, ss5977616633, ss5979908695 NC_000009.11:136135551:G:A NC_000009.12:133260147:G:A (self)
63133277, 339699392, 752373, 675476178, 1399510452, ss2315019143, ss3026735089, ss3649254264, ss3724896319, ss3726650398, ss3771530904, ss3812939107, ss4210660887, ss4838098617, ss5282430191, ss5478271834, ss5575607342, ss5918311712 NC_000009.12:133260147:G:A NC_000009.12:133260147:G:A (self)
ss8486958, ss43366414, ss67875530, ss68018858, ss68296405, ss70972402, ss71583493, ss75839967, ss84791539, ss154471158, ss159645697, ss160953559, ss174732117, ss244312810 NT_035014.4:2912491:G:A NC_000009.12:133260147:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

15 citations for rs8176704
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
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
20147318 Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. Qi L et al. 2010 Human molecular genetics
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
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
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)
21343614 Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort. Campos M et al. 2011 Blood
21633955 ABO blood group and breast cancer incidence and survival. Gates MA et al. 2012 International journal of cancer
21810271 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. Antoni G et al. 2011 BMC medical genetics
22703881 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. Tang W et al. 2012 American journal of human genetics
23133757 ABO Blood Groups and Cardiovascular Diseases. Zhang H et al. 2012 International journal of vascular medicine
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
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
28686695 Coronary artery disease-associated genetic variants and biomarkers of inflammation. Christiansen MK et al. 2017 PloS one
29190926 Polymorphism of the ABO gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. Long Z et al. 2017 Oncotarget
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
Top 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.

Software version is: 2.0.1.post761+d5e8e07