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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.

rs2271862

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr9:137011907 (GRCh38.p13) 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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.336303 (89016/264690, TOPMED)
G=0.325864 (80079/245744, GnomAD_exome)
G=0.304588 (48703/159898, ALFA) (+ 20 more)
G=0.335832 (47040/140070, GnomAD)
G=0.315047 (36628/116262, ExAC)
G=0.34719 (27311/78664, PAGE_STUDY)
G=0.18554 (3107/16746, 8.3KJPN)
G=0.32231 (4170/12938, GO-ESP)
G=0.3127 (1566/5008, 1000G)
G=0.3359 (1505/4480, Estonian)
G=0.3163 (1219/3854, ALSPAC)
G=0.2983 (1106/3708, TWINSUK)
G=0.1949 (570/2924, KOREAN)
G=0.3243 (613/1890, HapMap)
G=0.177 (140/792, PRJEB37584)
G=0.254 (156/614, Vietnamese)
G=0.320 (192/600, NorthernSweden)
G=0.320 (171/534, MGP)
G=0.243 (122/502, SGDP_PRJ)
G=0.371 (109/294, FINRISK)
G=0.361 (78/216, Qatari)
G=0.21 (11/52, Siberian)
G=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCA2 : Missense Variant
Publications
2 citations
Genomic View
See rs on genome
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.p13 chr 9 NC_000009.12:g.137011907G>A
GRCh38.p13 chr 9 NC_000009.12:g.137011907G>C
GRCh38.p13 chr 9 NC_000009.12:g.137011907G>T
GRCh37.p13 chr 9 NC_000009.11:g.139906359G>A
GRCh37.p13 chr 9 NC_000009.11:g.139906359G>C
GRCh37.p13 chr 9 NC_000009.11:g.139906359G>T
ABCA2 RefSeqGene NG_011789.1:g.22016C>T
ABCA2 RefSeqGene NG_011789.1:g.22016C>G
ABCA2 RefSeqGene NG_011789.1:g.22016C>A
Gene: ABCA2, ATP binding cassette subfamily A member 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCA2 transcript variant 1 NM_001606.5:c.5472C>T H [CAC] > H [CAT] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform a NP_001597.2:p.His1824= H (His) > H (His) Synonymous Variant
ABCA2 transcript variant 1 NM_001606.5:c.5472C>G H [CAC] > Q [CAG] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform a NP_001597.2:p.His1824Gln H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant 1 NM_001606.5:c.5472C>A H [CAC] > Q [CAA] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform a NP_001597.2:p.His1824Gln H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant 2 NM_212533.3:c.5562C>T H [CAC] > H [CAT] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform b NP_997698.1:p.His1854= H (His) > H (His) Synonymous Variant
ABCA2 transcript variant 2 NM_212533.3:c.5562C>G H [CAC] > Q [CAG] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform b NP_997698.1:p.His1854Gln H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant 2 NM_212533.3:c.5562C>A H [CAC] > Q [CAA] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform b NP_997698.1:p.His1854Gln H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant X1 XM_006716996.4:c.5469C>T H [CAC] > H [CAT] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1 XP_006717059.1:p.His1823= H (His) > H (His) Synonymous Variant
ABCA2 transcript variant X1 XM_006716996.4:c.5469C>G H [CAC] > Q [CAG] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1 XP_006717059.1:p.His1823G…

XP_006717059.1:p.His1823Gln

H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant X1 XM_006716996.4:c.5469C>A H [CAC] > Q [CAA] Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1 XP_006717059.1:p.His1823G…

XP_006717059.1:p.His1823Gln

H (His) > Q (Gln) Missense Variant
ABCA2 transcript variant X2 XR_001746224.1:n.5596C>T N/A Non Coding Transcript Variant
ABCA2 transcript variant X2 XR_001746224.1:n.5596C>G N/A Non Coding Transcript Variant
ABCA2 transcript variant X2 XR_001746224.1:n.5596C>A N/A Non Coding 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 159898 G=0.304588 A=0.695412
European Sub 132092 G=0.304886 A=0.695114
African Sub 5644 G=0.3632 A=0.6368
African Others Sub 188 G=0.431 A=0.569
African American Sub 5456 G=0.3609 A=0.6391
Asian Sub 3216 G=0.1800 A=0.8200
East Asian Sub 1962 G=0.1743 A=0.8257
Other Asian Sub 1254 G=0.1890 A=0.8110
Latin American 1 Sub 618 G=0.350 A=0.650
Latin American 2 Sub 1324 G=0.4358 A=0.5642
South Asian Sub 142 G=0.232 A=0.768
Other Sub 16862 G=0.29504 A=0.70496


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=0.336303 A=0.663697
gnomAD - Exomes Global Study-wide 245744 G=0.325864 A=0.674136
gnomAD - Exomes European Sub 132028 G=0.316819 A=0.683181
gnomAD - Exomes Asian Sub 48332 G=0.23258 A=0.76742
gnomAD - Exomes American Sub 34208 G=0.48328 A=0.51672
gnomAD - Exomes African Sub 15250 G=0.37338 A=0.62662
gnomAD - Exomes Ashkenazi Jewish Sub 9956 G=0.2911 A=0.7089
gnomAD - Exomes Other Sub 5970 G=0.3157 A=0.6843
gnomAD - Genomes Global Study-wide 140070 G=0.335832 A=0.664168
gnomAD - Genomes European Sub 75880 G=0.31757 A=0.68243
gnomAD - Genomes African Sub 41958 G=0.36837 A=0.63163
gnomAD - Genomes American Sub 13636 G=0.38398 A=0.61602
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.2899 A=0.7101
gnomAD - Genomes East Asian Sub 3124 G=0.1889 A=0.8111
gnomAD - Genomes Other Sub 2150 G=0.3247 A=0.6753
ExAC Global Study-wide 116262 G=0.315047 A=0.684953
ExAC Europe Sub 70162 G=0.31044 A=0.68956
ExAC Asian Sub 24778 G=0.23137 A=0.76863
ExAC American Sub 11052 G=0.49222 A=0.50778
ExAC African Sub 9412 G=0.3633 A=0.6367
ExAC Other Sub 858 G=0.297 A=0.703
The PAGE Study Global Study-wide 78664 G=0.34719 A=0.65281
The PAGE Study AfricanAmerican Sub 32502 G=0.37068 A=0.62932
The PAGE Study Mexican Sub 10804 G=0.46890 A=0.53110
The PAGE Study Asian Sub 8314 G=0.1885 A=0.8115
The PAGE Study PuertoRican Sub 7914 G=0.3461 A=0.6539
The PAGE Study NativeHawaiian Sub 4528 G=0.1617 A=0.8383
The PAGE Study Cuban Sub 4228 G=0.3141 A=0.6859
The PAGE Study Dominican Sub 3828 G=0.3425 A=0.6575
The PAGE Study CentralAmerican Sub 2448 G=0.4228 A=0.5772
The PAGE Study SouthAmerican Sub 1982 G=0.4026 A=0.5974
The PAGE Study NativeAmerican Sub 1260 G=0.3786 A=0.6214
The PAGE Study SouthAsian Sub 856 G=0.245 A=0.755
8.3KJPN JAPANESE Study-wide 16746 G=0.18554 A=0.81446
GO Exome Sequencing Project Global Study-wide 12938 G=0.32231 A=0.67769
GO Exome Sequencing Project European American Sub 8558 G=0.3021 A=0.6979
GO Exome Sequencing Project African American Sub 4380 G=0.3619 A=0.6381
1000Genomes Global Study-wide 5008 G=0.3127 A=0.6873
1000Genomes African Sub 1322 G=0.3623 A=0.6377
1000Genomes East Asian Sub 1008 G=0.1825 A=0.8175
1000Genomes Europe Sub 1006 G=0.3300 A=0.6700
1000Genomes South Asian Sub 978 G=0.258 A=0.742
1000Genomes American Sub 694 G=0.460 A=0.540
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3359 A=0.6641
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3163 A=0.6837
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2983 A=0.7017
KOREAN population from KRGDB KOREAN Study-wide 2924 G=0.1949 A=0.8051, C=0.0000, T=0.0000
HapMap Global Study-wide 1890 G=0.3243 A=0.6757
HapMap American Sub 770 G=0.295 A=0.705
HapMap African Sub 692 G=0.418 A=0.582
HapMap Asian Sub 252 G=0.194 A=0.806
HapMap Europe Sub 176 G=0.273 A=0.727
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.177 A=0.823
CNV burdens in cranial meningiomas CRM Sub 792 G=0.177 A=0.823
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.254 A=0.746
Northern Sweden ACPOP Study-wide 600 G=0.320 A=0.680
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.320 A=0.680
SGDP_PRJ Global Study-wide 502 G=0.243 A=0.757
FINRISK Finnish from FINRISK project Study-wide 294 G=0.371 A=0.629
Qatari Global Study-wide 216 G=0.361 A=0.639
Siberian Global Study-wide 52 G=0.21 A=0.79
The Danish reference pan genome Danish Study-wide 40 G=0.35 A=0.65
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 C T
GRCh38.p13 chr 9 NC_000009.12:g.137011907= NC_000009.12:g.137011907G>A NC_000009.12:g.137011907G>C NC_000009.12:g.137011907G>T
GRCh37.p13 chr 9 NC_000009.11:g.139906359= NC_000009.11:g.139906359G>A NC_000009.11:g.139906359G>C NC_000009.11:g.139906359G>T
ABCA2 RefSeqGene NG_011789.1:g.22016= NG_011789.1:g.22016C>T NG_011789.1:g.22016C>G NG_011789.1:g.22016C>A
ABCA2 transcript variant 1 NM_001606.5:c.5472= NM_001606.5:c.5472C>T NM_001606.5:c.5472C>G NM_001606.5:c.5472C>A
ABCA2 transcript variant 1 NM_001606.4:c.5472= NM_001606.4:c.5472C>T NM_001606.4:c.5472C>G NM_001606.4:c.5472C>A
ABCA2 transcript variant 2 NM_212533.3:c.5562= NM_212533.3:c.5562C>T NM_212533.3:c.5562C>G NM_212533.3:c.5562C>A
ABCA2 transcript variant 2 NM_212533.2:c.5562= NM_212533.2:c.5562C>T NM_212533.2:c.5562C>G NM_212533.2:c.5562C>A
ABCA2 transcript variant X1 XM_006716996.4:c.5469= XM_006716996.4:c.5469C>T XM_006716996.4:c.5469C>G XM_006716996.4:c.5469C>A
ABCA2 transcript variant X2 XR_001746224.1:n.5596= XR_001746224.1:n.5596C>T XR_001746224.1:n.5596C>G XR_001746224.1:n.5596C>A
ATP-binding cassette sub-family A member 2 isoform a NP_001597.2:p.His1824= NP_001597.2:p.His1824= NP_001597.2:p.His1824Gln NP_001597.2:p.His1824Gln
ATP-binding cassette sub-family A member 2 isoform b NP_997698.1:p.His1854= NP_997698.1:p.His1854= NP_997698.1:p.His1854Gln NP_997698.1:p.His1854Gln
ATP-binding cassette sub-family A member 2 isoform X1 XP_006717059.1:p.His1823= XP_006717059.1:p.His1823= XP_006717059.1:p.His1823Gln XP_006717059.1:p.His1823Gln
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#.

130 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3206790 Sep 28, 2001 (100)
2 CGAP-GAI ss16259677 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss17258695 Feb 27, 2004 (120)
4 MGC_GENOME_DIFF ss28497568 Sep 24, 2004 (126)
5 MGC_GENOME_DIFF ss28512295 Sep 24, 2004 (126)
6 ILLUMINA ss65737994 Oct 14, 2006 (127)
7 PERLEGEN ss69306146 May 16, 2007 (127)
8 ILLUMINA ss74885396 Dec 06, 2007 (129)
9 HGSV ss83730024 Dec 14, 2007 (130)
10 HGSV ss84013524 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss94201422 Mar 25, 2008 (129)
12 HUMANGENOME_JCVI ss97757111 Feb 04, 2009 (130)
13 BGI ss105708755 Feb 04, 2009 (130)
14 1000GENOMES ss109141617 Jan 23, 2009 (130)
15 1000GENOMES ss115210349 Jan 25, 2009 (130)
16 ILLUMINA-UK ss115817461 Feb 14, 2009 (130)
17 KRIBB_YJKIM ss119425568 Dec 01, 2009 (131)
18 ENSEMBL ss134206416 Dec 01, 2009 (131)
19 ILLUMINA ss152536272 Dec 01, 2009 (131)
20 GMI ss158068369 Dec 01, 2009 (131)
21 ILLUMINA ss159102613 Dec 01, 2009 (131)
22 SEATTLESEQ ss159719736 Dec 01, 2009 (131)
23 ILLUMINA ss168870615 Jul 04, 2010 (132)
24 ILLUMINA ss173232047 Jul 04, 2010 (132)
25 BUSHMAN ss201012876 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss206777016 Jul 04, 2010 (132)
27 1000GENOMES ss224508508 Jul 14, 2010 (132)
28 1000GENOMES ss235009561 Jul 15, 2010 (132)
29 1000GENOMES ss241751186 Jul 15, 2010 (132)
30 GMI ss280436956 May 04, 2012 (137)
31 GMI ss286109524 Apr 25, 2013 (138)
32 PJP ss294392003 May 09, 2011 (134)
33 ILLUMINA ss410921284 Sep 17, 2011 (135)
34 ILLUMINA ss479379526 May 04, 2012 (137)
35 ILLUMINA ss485750448 May 04, 2012 (137)
36 1000GENOMES ss490990324 May 04, 2012 (137)
37 EXOME_CHIP ss491431097 May 04, 2012 (137)
38 CLINSEQ_SNP ss491947094 May 04, 2012 (137)
39 ILLUMINA ss532727805 Sep 08, 2015 (146)
40 SSMP ss656200394 Apr 25, 2013 (138)
41 NHLBI-ESP ss712923013 Apr 25, 2013 (138)
42 ILLUMINA ss779575768 Sep 08, 2015 (146)
43 ILLUMINA ss780883293 Sep 08, 2015 (146)
44 ILLUMINA ss780966859 Sep 08, 2015 (146)
45 ILLUMINA ss783569210 Sep 08, 2015 (146)
46 ILLUMINA ss832615409 Jul 13, 2019 (153)
47 ILLUMINA ss835047197 Sep 08, 2015 (146)
48 JMKIDD_LAB ss974473394 Aug 21, 2014 (142)
49 EVA-GONL ss987087326 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1067509777 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1076682581 Aug 21, 2014 (142)
52 1000GENOMES ss1335871685 Aug 21, 2014 (142)
53 DDI ss1431990971 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1583298343 Apr 01, 2015 (144)
55 EVA_FINRISK ss1584066094 Apr 01, 2015 (144)
56 EVA_DECODE ss1596735096 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1623779967 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1666774000 Apr 01, 2015 (144)
59 EVA_EXAC ss1689765408 Apr 01, 2015 (144)
60 EVA_MGP ss1711244022 Apr 01, 2015 (144)
61 EVA_SVP ss1713148559 Apr 01, 2015 (144)
62 ILLUMINA ss1752766797 Sep 08, 2015 (146)
63 HAMMER_LAB ss1806209046 Sep 08, 2015 (146)
64 ILLUMINA ss1917843462 Feb 12, 2016 (147)
65 WEILL_CORNELL_DGM ss1930404071 Feb 12, 2016 (147)
66 ILLUMINA ss1946273100 Feb 12, 2016 (147)
67 ILLUMINA ss1959229631 Feb 12, 2016 (147)
68 GENOMED ss1971328987 Jul 19, 2016 (147)
69 JJLAB ss2025925050 Sep 14, 2016 (149)
70 USC_VALOUEV ss2154163453 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2315294810 Dec 20, 2016 (150)
72 TOPMED ss2485827572 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2627430640 Nov 08, 2017 (151)
74 ILLUMINA ss2634931493 Nov 08, 2017 (151)
75 ILLUMINA ss2634931494 Nov 08, 2017 (151)
76 GRF ss2710048948 Nov 08, 2017 (151)
77 GNOMAD ss2738035467 Nov 08, 2017 (151)
78 GNOMAD ss2748320945 Nov 08, 2017 (151)
79 GNOMAD ss2884386464 Nov 08, 2017 (151)
80 AFFY ss2985478805 Nov 08, 2017 (151)
81 SWEGEN ss3005763482 Nov 08, 2017 (151)
82 ILLUMINA ss3022979207 Nov 08, 2017 (151)
83 EVA_SAMSUNG_MC ss3023065041 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3026745139 Nov 08, 2017 (151)
85 CSHL ss3348906170 Nov 08, 2017 (151)
86 TOPMED ss3603266427 Nov 08, 2017 (151)
87 ILLUMINA ss3630382930 Oct 12, 2018 (152)
88 ILLUMINA ss3630382931 Oct 12, 2018 (152)
89 ILLUMINA ss3632819398 Oct 12, 2018 (152)
90 ILLUMINA ss3635239582 Oct 12, 2018 (152)
91 ILLUMINA ss3638842967 Oct 12, 2018 (152)
92 ILLUMINA ss3638842968 Oct 12, 2018 (152)
93 ILLUMINA ss3640946871 Oct 12, 2018 (152)
94 ILLUMINA ss3641249448 Oct 12, 2018 (152)
95 ILLUMINA ss3641547530 Oct 12, 2018 (152)
96 ILLUMINA ss3642719413 Oct 12, 2018 (152)
97 ILLUMINA ss3643767280 Oct 12, 2018 (152)
98 ILLUMINA ss3645006417 Oct 12, 2018 (152)
99 OMUKHERJEE_ADBS ss3646400788 Oct 12, 2018 (152)
100 URBANLAB ss3649262410 Oct 12, 2018 (152)
101 ILLUMINA ss3653536422 Oct 12, 2018 (152)
102 ILLUMINA ss3654243858 Oct 12, 2018 (152)
103 EGCUT_WGS ss3673300261 Jul 13, 2019 (153)
104 EVA_DECODE ss3724969020 Jul 13, 2019 (153)
105 ILLUMINA ss3726654710 Jul 13, 2019 (153)
106 ACPOP ss3736966303 Jul 13, 2019 (153)
107 ILLUMINA ss3744596390 Jul 13, 2019 (153)
108 ILLUMINA ss3745539453 Jul 13, 2019 (153)
109 EVA ss3769822200 Jul 13, 2019 (153)
110 PAGE_CC ss3771534518 Jul 13, 2019 (153)
111 ILLUMINA ss3773031190 Jul 13, 2019 (153)
112 KHV_HUMAN_GENOMES ss3812981727 Jul 13, 2019 (153)
113 EVA ss3824489774 Apr 26, 2020 (154)
114 EVA ss3825526172 Apr 26, 2020 (154)
115 EVA ss3825541736 Apr 26, 2020 (154)
116 EVA ss3825768615 Apr 26, 2020 (154)
117 EVA ss3831912767 Apr 26, 2020 (154)
118 EVA ss3839485250 Apr 26, 2020 (154)
119 EVA ss3844951113 Apr 26, 2020 (154)
120 SGDP_PRJ ss3873299101 Apr 26, 2020 (154)
121 KRGDB ss3921214828 Apr 26, 2020 (154)
122 FSA-LAB ss3984436383 Apr 26, 2021 (155)
123 FSA-LAB ss3984436384 Apr 26, 2021 (155)
124 EVA ss3984627901 Apr 26, 2021 (155)
125 EVA ss3986048785 Apr 26, 2021 (155)
126 EVA ss3986471325 Apr 26, 2021 (155)
127 TOPMED ss4839179443 Apr 26, 2021 (155)
128 TOMMO_GENOMICS ss5195790709 Apr 26, 2021 (155)
129 EVA ss5237054413 Apr 26, 2021 (155)
130 EVA ss5237207018 Apr 26, 2021 (155)
131 1000Genomes NC_000009.11 - 139906359 Oct 12, 2018 (152)
132 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 139906359 Oct 12, 2018 (152)
133 Genetic variation in the Estonian population NC_000009.11 - 139906359 Oct 12, 2018 (152)
134 ExAC NC_000009.11 - 139906359 Oct 12, 2018 (152)
135 FINRISK NC_000009.11 - 139906359 Apr 26, 2020 (154)
136 The Danish reference pan genome NC_000009.11 - 139906359 Apr 26, 2020 (154)
137 gnomAD - Genomes NC_000009.12 - 137011907 Apr 26, 2021 (155)
138 gnomAD - Exomes NC_000009.11 - 139906359 Jul 13, 2019 (153)
139 GO Exome Sequencing Project NC_000009.11 - 139906359 Oct 12, 2018 (152)
140 HapMap NC_000009.12 - 137011907 Apr 26, 2020 (154)
141 KOREAN population from KRGDB NC_000009.11 - 139906359 Apr 26, 2020 (154)
142 Medical Genome Project healthy controls from Spanish population NC_000009.11 - 139906359 Apr 26, 2020 (154)
143 Northern Sweden NC_000009.11 - 139906359 Jul 13, 2019 (153)
144 The PAGE Study NC_000009.12 - 137011907 Jul 13, 2019 (153)
145 CNV burdens in cranial meningiomas NC_000009.11 - 139906359 Apr 26, 2021 (155)
146 Qatari NC_000009.11 - 139906359 Apr 26, 2020 (154)
147 SGDP_PRJ NC_000009.11 - 139906359 Apr 26, 2020 (154)
148 Siberian NC_000009.11 - 139906359 Apr 26, 2020 (154)
149 8.3KJPN NC_000009.11 - 139906359 Apr 26, 2021 (155)
150 TopMed NC_000009.12 - 137011907 Apr 26, 2021 (155)
151 UK 10K study - Twins NC_000009.11 - 139906359 Oct 12, 2018 (152)
152 A Vietnamese Genetic Variation Database NC_000009.11 - 139906359 Jul 13, 2019 (153)
153 ALFA NC_000009.12 - 137011907 Apr 26, 2021 (155)
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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)
rs17845183 Mar 10, 2006 (126)
rs17857993 Mar 10, 2006 (126)
rs57203116 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83730024, ss84013524 NC_000009.9:137182195:G:A NC_000009.12:137011906:G:A (self)
ss94201422, ss109141617, ss115210349, ss115817461, ss201012876, ss206777016, ss280436956, ss286109524, ss294392003, ss485750448, ss491947094, ss1596735096, ss1713148559, ss3643767280 NC_000009.10:139026179:G:A NC_000009.12:137011906:G:A (self)
48204144, 26787184, 19038509, 9908938, 62555, 9463280, 7227130, 947508, 28392222, 359782, 10251168, 177355, 12446001, 25316081, 6679807, 53760016, 26787184, 5944900, ss224508508, ss235009561, ss241751186, ss479379526, ss490990324, ss491431097, ss532727805, ss656200394, ss712923013, ss779575768, ss780883293, ss780966859, ss783569210, ss832615409, ss835047197, ss974473394, ss987087326, ss1067509777, ss1076682581, ss1335871685, ss1431990971, ss1583298343, ss1584066094, ss1623779967, ss1666774000, ss1689765408, ss1711244022, ss1752766797, ss1806209046, ss1917843462, ss1930404071, ss1946273100, ss1959229631, ss1971328987, ss2025925050, ss2154163453, ss2485827572, ss2627430640, ss2634931493, ss2634931494, ss2710048948, ss2738035467, ss2748320945, ss2884386464, ss2985478805, ss3005763482, ss3022979207, ss3023065041, ss3348906170, ss3630382930, ss3630382931, ss3632819398, ss3635239582, ss3638842967, ss3638842968, ss3640946871, ss3641249448, ss3641547530, ss3642719413, ss3645006417, ss3646400788, ss3653536422, ss3654243858, ss3673300261, ss3736966303, ss3744596390, ss3745539453, ss3769822200, ss3773031190, ss3824489774, ss3825526172, ss3825541736, ss3825768615, ss3831912767, ss3839485250, ss3873299101, ss3921214828, ss3984436383, ss3984436384, ss3984627901, ss3986048785, ss3986471325, ss5195790709 NC_000009.11:139906358:G:A NC_000009.12:137011906:G:A (self)
340624534, 3937869, 755987, 422401930, 676557004, 2561120844, ss2315294810, ss3026745139, ss3603266427, ss3649262410, ss3724969020, ss3726654710, ss3771534518, ss3812981727, ss3844951113, ss4839179443, ss5237054413, ss5237207018 NC_000009.12:137011906:G:A NC_000009.12:137011906:G:A (self)
ss17258695 NT_024000.15:657437:G:A NC_000009.12:137011906:G:A (self)
ss3206790, ss16259677, ss28497568, ss28512295, ss65737994, ss69306146, ss74885396, ss97757111, ss105708755, ss119425568, ss134206416, ss152536272, ss158068369, ss159102613, ss159719736, ss168870615, ss173232047, ss410921284 NT_024000.16:689361:G:A NC_000009.12:137011906:G:A (self)
28392222, ss3921214828 NC_000009.11:139906358:G:C NC_000009.12:137011906:G:C (self)
28392222, ss3921214828 NC_000009.11:139906358:G:T NC_000009.12:137011906:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs2271862
PMID Title Author Year Journal
21072184 Flavopiridol pharmacogenetics: clinical and functional evidence for the role of SLCO1B1/OATP1B1 in flavopiridol disposition. Ni W et al. 2010 PloS one
32559325 Evaluation of ABC gene polymorphisms on the pharmacokinetics and pharmacodynamics of capecitabine in colorectal patients: Implications for dosing recommendations. Sáez-Belló M et al. 2021 British journal of clinical pharmacology
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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.post596+ae089ad