Name: rs2271862
Published: September 21, 2022
License: Open Access

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 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:137011907 (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>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) (+ 22 more)
G=0.335832 (47040/140070, GnomAD)
G=0.315047 (36628/116262, ExAC)
G=0.34719 (27311/78664, PAGE_STUDY)
G=0.18434 (5206/28242, 14KJPN)
G=0.18554 (3107/16746, 8.3KJPN)
G=0.32231 (4170/12938, GO-ESP)
G=0.3150 (2017/6404, 1000G_30x)
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: Reported in ClinVar
Gene : Consequence: ABCA2 : Missense Variant
Publications: 2 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	176132	G=0.306725	A=0.693275
European	Sub	142076	G=0.305125	A=0.694875
African	Sub	10470	G=0.36523	A=0.63477
African Others	Sub	368	G=0.359	A=0.641
African American	Sub	10102	G=0.36547	A=0.63453
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	18286	G=0.29771	A=0.70229

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").

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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
Allele Frequency Aggregator	Total	Global	159898	G=0.304588	A=0.695412
Allele Frequency Aggregator	European	Sub	132092	G=0.304886	A=0.695114
Allele Frequency Aggregator	Other	Sub	16862	G=0.29504	A=0.70496
Allele Frequency Aggregator	African	Sub	5644	G=0.3632	A=0.6368
Allele Frequency Aggregator	Asian	Sub	3216	G=0.1800	A=0.8200
Allele Frequency Aggregator	Latin American 2	Sub	1324	G=0.4358	A=0.5642
Allele Frequency Aggregator	Latin American 1	Sub	618	G=0.350	A=0.650
Allele Frequency Aggregator	South Asian	Sub	142	G=0.232	A=0.768
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
14KJPN	JAPANESE	Study-wide	28242	G=0.18434	A=0.81566
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_30x	Global	Study-wide	6404	G=0.3150	A=0.6850
1000Genomes_30x	African	Sub	1786	G=0.3589	A=0.6411
1000Genomes_30x	Europe	Sub	1266	G=0.3215	A=0.6785
1000Genomes_30x	South Asian	Sub	1202	G=0.2537	A=0.7463
1000Genomes_30x	East Asian	Sub	1170	G=0.1855	A=0.8145
1000Genomes_30x	American	Sub	980	G=0.456	A=0.544
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

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.137011907G>A
GRCh38.p14 chr 9	NC_000009.12:g.137011907G>C
GRCh38.p14 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_047422921.1:c.5559C>T	H [CAC] > H [CAT]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1	XP_047278877.1:p.His1853=	H (His) > H (His)	Synonymous Variant
ABCA2 transcript variant X1	XM_047422921.1:c.5559C>G	H [CAC] > Q [CAG]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1	XP_047278877.1:p.His1853G… XP_047278877.1:p.His1853Gln	H (His) > Q (Gln)	Missense Variant
ABCA2 transcript variant X1	XM_047422921.1:c.5559C>A	H [CAC] > Q [CAA]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X1	XP_047278877.1:p.His1853G… XP_047278877.1:p.His1853Gln	H (His) > Q (Gln)	Missense Variant
ABCA2 transcript variant X2	XM_006716996.5:c.5469C>T	H [CAC] > H [CAT]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X2	XP_006717059.1:p.His1823=	H (His) > H (His)	Synonymous Variant
ABCA2 transcript variant X2	XM_006716996.5:c.5469C>G	H [CAC] > Q [CAG]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X2	XP_006717059.1:p.His1823G… XP_006717059.1:p.His1823Gln	H (His) > Q (Gln)	Missense Variant
ABCA2 transcript variant X2	XM_006716996.5:c.5469C>A	H [CAC] > Q [CAA]	Coding Sequence Variant
ATP-binding cassette sub-family A member 2 isoform X2	XP_006717059.1:p.His1823G… XP_006717059.1:p.His1823Gln	H (His) > Q (Gln)	Missense 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.

Allele: A (allele ID: 1087436 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001420692.2	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	Benign

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.p14 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 3	NM_001411042.1:c.5469=	NM_001411042.1:c.5469C>T	NM_001411042.1:c.5469C>G	NM_001411042.1:c.5469C>A
ABCA2 transcript variant X2	XM_006716996.5:c.5469=	XM_006716996.5:c.5469C>T	XM_006716996.5:c.5469C>G	XM_006716996.5:c.5469C>A
ABCA2 transcript variant X1	XM_047422921.1:c.5559=	XM_047422921.1:c.5559C>T	XM_047422921.1:c.5559C>G	XM_047422921.1:c.5559C>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 X2	XP_006717059.1:p.His1823=	XP_006717059.1:p.His1823=	XP_006717059.1:p.His1823Gln	XP_006717059.1:p.His1823Gln
ATP-binding cassette sub-family A member 2 isoform X1	XP_047278877.1:p.His1853=	XP_047278877.1:p.His1853=	XP_047278877.1:p.His1853Gln	XP_047278877.1:p.His1853Gln

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#.

153 SubSNP, 25 Frequency, 1 ClinVar 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	SYSTEMSBIOZJU	ss2627430640	Nov 08, 2017 (151)
73	ILLUMINA	ss2634931493	Nov 08, 2017 (151)
74	ILLUMINA	ss2634931494	Nov 08, 2017 (151)
75	GRF	ss2710048948	Nov 08, 2017 (151)
76	GNOMAD	ss2738035467	Nov 08, 2017 (151)
77	GNOMAD	ss2748320945	Nov 08, 2017 (151)
78	GNOMAD	ss2884386464	Nov 08, 2017 (151)
79	AFFY	ss2985478805	Nov 08, 2017 (151)
80	SWEGEN	ss3005763482	Nov 08, 2017 (151)
81	ILLUMINA	ss3022979207	Nov 08, 2017 (151)
82	EVA_SAMSUNG_MC	ss3023065041	Nov 08, 2017 (151)
83	BIOINF_KMB_FNS_UNIBA	ss3026745139	Nov 08, 2017 (151)
84	CSHL	ss3348906170	Nov 08, 2017 (151)
85	ILLUMINA	ss3630382930	Oct 12, 2018 (152)
86	ILLUMINA	ss3630382931	Oct 12, 2018 (152)
87	ILLUMINA	ss3632819398	Oct 12, 2018 (152)
88	ILLUMINA	ss3635239582	Oct 12, 2018 (152)
89	ILLUMINA	ss3638842967	Oct 12, 2018 (152)
90	ILLUMINA	ss3638842968	Oct 12, 2018 (152)
91	ILLUMINA	ss3640946871	Oct 12, 2018 (152)
92	ILLUMINA	ss3641249448	Oct 12, 2018 (152)
93	ILLUMINA	ss3641547530	Oct 12, 2018 (152)
94	ILLUMINA	ss3642719413	Oct 12, 2018 (152)
95	ILLUMINA	ss3643767280	Oct 12, 2018 (152)
96	ILLUMINA	ss3645006417	Oct 12, 2018 (152)
97	OMUKHERJEE_ADBS	ss3646400788	Oct 12, 2018 (152)
98	URBANLAB	ss3649262410	Oct 12, 2018 (152)
99	ILLUMINA	ss3653536422	Oct 12, 2018 (152)
100	ILLUMINA	ss3654243858	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3673300261	Jul 13, 2019 (153)
102	EVA_DECODE	ss3724969020	Jul 13, 2019 (153)
103	ILLUMINA	ss3726654710	Jul 13, 2019 (153)
104	ACPOP	ss3736966303	Jul 13, 2019 (153)
105	ILLUMINA	ss3744596390	Jul 13, 2019 (153)
106	ILLUMINA	ss3745539453	Jul 13, 2019 (153)
107	EVA	ss3769822200	Jul 13, 2019 (153)
108	PAGE_CC	ss3771534518	Jul 13, 2019 (153)
109	ILLUMINA	ss3773031190	Jul 13, 2019 (153)
110	KHV_HUMAN_GENOMES	ss3812981727	Jul 13, 2019 (153)
111	EVA	ss3824489774	Apr 26, 2020 (154)
112	EVA	ss3825526172	Apr 26, 2020 (154)
113	EVA	ss3825541736	Apr 26, 2020 (154)
114	EVA	ss3825768615	Apr 26, 2020 (154)
115	EVA	ss3831912767	Apr 26, 2020 (154)
116	EVA	ss3839485250	Apr 26, 2020 (154)
117	EVA	ss3844951113	Apr 26, 2020 (154)
118	SGDP_PRJ	ss3873299101	Apr 26, 2020 (154)
119	KRGDB	ss3921214828	Apr 26, 2020 (154)
120	FSA-LAB	ss3984436383	Apr 26, 2021 (155)
121	FSA-LAB	ss3984436384	Apr 26, 2021 (155)
122	EVA	ss3984627901	Apr 26, 2021 (155)
123	EVA	ss3986048785	Apr 26, 2021 (155)
124	EVA	ss3986471325	Apr 26, 2021 (155)
125	TOPMED	ss4839179443	Apr 26, 2021 (155)
126	TOMMO_GENOMICS	ss5195790709	Apr 26, 2021 (155)
127	EVA	ss5237054413	Apr 26, 2021 (155)
128	EVA	ss5237207018	Apr 26, 2021 (155)
129	EVA	ss5237654331	Oct 16, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5282556444	Oct 16, 2022 (156)
131	TRAN_CS_UWATERLOO	ss5314427412	Oct 16, 2022 (156)
132	EVA	ss5315441916	Oct 16, 2022 (156)
133	EVA	ss5390939734	Oct 16, 2022 (156)
134	HUGCELL_USP	ss5478379915	Oct 16, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5575785023	Oct 16, 2022 (156)
136	EVA	ss5624190096	Oct 16, 2022 (156)
137	SANFORD_IMAGENETICS	ss5624733573	Oct 16, 2022 (156)
138	SANFORD_IMAGENETICS	ss5648469069	Oct 16, 2022 (156)
139	TOMMO_GENOMICS	ss5740493295	Oct 16, 2022 (156)
140	EVA	ss5800061229	Oct 16, 2022 (156)
141	EVA	ss5800156410	Oct 16, 2022 (156)
142	YY_MCH	ss5811098837	Oct 16, 2022 (156)
143	EVA	ss5829896114	Oct 16, 2022 (156)
144	EVA	ss5847365469	Oct 16, 2022 (156)
145	EVA	ss5848224928	Oct 16, 2022 (156)
146	EVA	ss5848736718	Oct 16, 2022 (156)
147	EVA	ss5856978753	Oct 16, 2022 (156)
148	EVA	ss5918451996	Oct 16, 2022 (156)
149	EVA	ss5936543430	Oct 16, 2022 (156)
150	EVA	ss5977683405	Oct 16, 2022 (156)
151	EVA	ss5979910233	Oct 16, 2022 (156)
152	EVA	ss5980587106	Oct 16, 2022 (156)
153	EVA	ss5981258031	Oct 16, 2022 (156)
154	1000Genomes	NC_000009.11 - 139906359	Oct 12, 2018 (152)
155	1000Genomes_30x	NC_000009.12 - 137011907	Oct 16, 2022 (156)
156	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 139906359	Oct 12, 2018 (152)
157	Genetic variation in the Estonian population	NC_000009.11 - 139906359	Oct 12, 2018 (152)
158	ExAC	NC_000009.11 - 139906359	Oct 12, 2018 (152)
159	FINRISK	NC_000009.11 - 139906359	Apr 26, 2020 (154)
160	The Danish reference pan genome	NC_000009.11 - 139906359	Apr 26, 2020 (154)
161	gnomAD - Genomes	NC_000009.12 - 137011907	Apr 26, 2021 (155)
162	gnomAD - Exomes	NC_000009.11 - 139906359	Jul 13, 2019 (153)
163	GO Exome Sequencing Project	NC_000009.11 - 139906359	Oct 12, 2018 (152)
164	HapMap	NC_000009.12 - 137011907	Apr 26, 2020 (154)
165	KOREAN population from KRGDB	NC_000009.11 - 139906359	Apr 26, 2020 (154)
166	Medical Genome Project healthy controls from Spanish population	NC_000009.11 - 139906359	Apr 26, 2020 (154)
167	Northern Sweden	NC_000009.11 - 139906359	Jul 13, 2019 (153)
168	The PAGE Study	NC_000009.12 - 137011907	Jul 13, 2019 (153)
169	CNV burdens in cranial meningiomas	NC_000009.11 - 139906359	Apr 26, 2021 (155)
170	Qatari	NC_000009.11 - 139906359	Apr 26, 2020 (154)
171	SGDP_PRJ	NC_000009.11 - 139906359	Apr 26, 2020 (154)
172	Siberian	NC_000009.11 - 139906359	Apr 26, 2020 (154)
173	8.3KJPN	NC_000009.11 - 139906359	Apr 26, 2021 (155)
174	14KJPN	NC_000009.12 - 137011907	Oct 16, 2022 (156)
175	TopMed	NC_000009.12 - 137011907	Apr 26, 2021 (155)
176	UK 10K study - Twins	NC_000009.11 - 139906359	Oct 12, 2018 (152)
177	A Vietnamese Genetic Variation Database	NC_000009.11 - 139906359	Jul 13, 2019 (153)
178	ALFA	NC_000009.12 - 137011907	Apr 26, 2021 (155)
179	ClinVar	RCV001420692.2	Oct 16, 2022 (156)

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, 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, ss5315441916, ss5390939734, ss5624190096, ss5624733573, ss5648469069, ss5800061229, ss5800156410, ss5829896114, ss5847365469, ss5848224928, ss5848736718, ss5936543430, ss5977683405, ss5979910233, ss5980587106, ss5981258031	NC_000009.11:139906358:G:A	NC_000009.12:137011906:G:A	(self)
RCV001420692.2, 63310958, 340624534, 3937869, 755987, 74330399, 676557004, 2561120844, ss2315294810, ss3026745139, ss3649262410, ss3724969020, ss3726654710, ss3771534518, ss3812981727, ss3844951113, ss4839179443, ss5237054413, ss5237207018, ss5237654331, ss5282556444, ss5314427412, ss5478379915, ss5575785023, ss5740493295, ss5811098837, ss5856978753, ss5918451996	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)

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

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2271862