Name: rs9275596
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.

rs9275596

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32713854 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.321357 (85060/264690, TOPMED)
C=0.344181 (76044/220942, ALFA)
C=0.338446 (47379/139990, GnomAD) (+ 18 more)
C=0.26553 (20897/78700, PAGE_STUDY)
C=0.14499 (4097/28258, 14KJPN)
C=0.14678 (2460/16760, 8.3KJPN)
C=0.2374 (1520/6404, 1000G_30x)
C=0.2326 (1165/5008, 1000G)
C=0.3835 (1718/4480, Estonian)
C=0.3599 (1387/3854, ALSPAC)
C=0.3794 (1407/3708, TWINSUK)
C=0.1909 (559/2928, KOREAN)
C=0.2454 (511/2082, HGDP_Stanford)
C=0.2701 (511/1892, HapMap)
C=0.425 (424/998, GoNL)
C=0.427 (256/600, NorthernSweden)
C=0.171 (86/504, SGDP_PRJ)
C=0.273 (59/216, Qatari)
C=0.22 (16/72, Ancient Sardinia)
C=0.22 (11/50, Siberian)
T=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 12 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	226120	C=0.344154	T=0.655846
European	Sub	197812	C=0.355378	T=0.644622
African	Sub	6002	C=0.3524	T=0.6476
African Others	Sub	260	C=0.331	T=0.669
African American	Sub	5742	C=0.3534	T=0.6466
Asian	Sub	6608	C=0.1727	T=0.8273
East Asian	Sub	4774	C=0.1822	T=0.8178
Other Asian	Sub	1834	C=0.1478	T=0.8522
Latin American 1	Sub	600	C=0.308	T=0.692
Latin American 2	Sub	1788	C=0.2064	T=0.7936
South Asian	Sub	346	C=0.182	T=0.818
Other	Sub	12964	C=0.28147	T=0.71853

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	C=0.321357	T=0.678643
Allele Frequency Aggregator	Total	Global	220942	C=0.344181	T=0.655819
Allele Frequency Aggregator	European	Sub	194598	C=0.355266	T=0.644734
Allele Frequency Aggregator	Other	Sub	12156	C=0.28291	T=0.71709
Allele Frequency Aggregator	Asian	Sub	6608	C=0.1727	T=0.8273
Allele Frequency Aggregator	African	Sub	4846	C=0.3535	T=0.6465
Allele Frequency Aggregator	Latin American 2	Sub	1788	C=0.2064	T=0.7936
Allele Frequency Aggregator	Latin American 1	Sub	600	C=0.308	T=0.692
Allele Frequency Aggregator	South Asian	Sub	346	C=0.182	T=0.818
gnomAD - Genomes	Global	Study-wide	139990	C=0.338446	T=0.661554
gnomAD - Genomes	European	Sub	75836	C=0.36344	T=0.63656
gnomAD - Genomes	African	Sub	41902	C=0.35034	T=0.64966
gnomAD - Genomes	American	Sub	13644	C=0.24414	T=0.75586
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.2080	T=0.7920
gnomAD - Genomes	East Asian	Sub	3134	C=0.1493	T=0.8507
gnomAD - Genomes	Other	Sub	2152	C=0.3007	T=0.6993
The PAGE Study	Global	Study-wide	78700	C=0.26553	T=0.73447
The PAGE Study	AfricanAmerican	Sub	32516	C=0.35050	T=0.64950
The PAGE Study	Mexican	Sub	10810	C=0.17216	T=0.82784
The PAGE Study	Asian	Sub	8318	C=0.1408	T=0.8592
The PAGE Study	PuertoRican	Sub	7918	C=0.2701	T=0.7299
The PAGE Study	NativeHawaiian	Sub	4534	C=0.1383	T=0.8617
The PAGE Study	Cuban	Sub	4228	C=0.2871	T=0.7129
The PAGE Study	Dominican	Sub	3828	C=0.2941	T=0.7059
The PAGE Study	CentralAmerican	Sub	2450	C=0.1971	T=0.8029
The PAGE Study	SouthAmerican	Sub	1982	C=0.1751	T=0.8249
The PAGE Study	NativeAmerican	Sub	1260	C=0.2968	T=0.7032
The PAGE Study	SouthAsian	Sub	856	C=0.185	T=0.815
14KJPN	JAPANESE	Study-wide	28258	C=0.14499	T=0.85501
8.3KJPN	JAPANESE	Study-wide	16760	C=0.14678	T=0.85322
1000Genomes_30x	Global	Study-wide	6404	C=0.2374	T=0.7626
1000Genomes_30x	African	Sub	1786	C=0.3052	T=0.6948
1000Genomes_30x	Europe	Sub	1266	C=0.3088	T=0.6912
1000Genomes_30x	South Asian	Sub	1202	C=0.1913	T=0.8087
1000Genomes_30x	East Asian	Sub	1170	C=0.1402	T=0.8598
1000Genomes_30x	American	Sub	980	C=0.194	T=0.806
1000Genomes	Global	Study-wide	5008	C=0.2326	T=0.7674
1000Genomes	African	Sub	1322	C=0.3048	T=0.6952
1000Genomes	East Asian	Sub	1008	C=0.1369	T=0.8631
1000Genomes	Europe	Sub	1006	C=0.3101	T=0.6899
1000Genomes	South Asian	Sub	978	C=0.185	T=0.815
1000Genomes	American	Sub	694	C=0.189	T=0.811
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3835	T=0.6165
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3599	T=0.6401
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3794	T=0.6206
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.1909	A=0.0000, G=0.0000, T=0.8091
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.2454	T=0.7546
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.145	T=0.855
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.365	T=0.635
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.253	T=0.747
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.303	T=0.697
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.393	T=0.607
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.019	T=0.981
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.11	T=0.89
HapMap	Global	Study-wide	1892	C=0.2701	T=0.7299
HapMap	American	Sub	770	C=0.223	T=0.777
HapMap	African	Sub	692	C=0.348	T=0.652
HapMap	Asian	Sub	254	C=0.193	T=0.807
HapMap	Europe	Sub	176	C=0.278	T=0.722
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.425	T=0.575
Northern Sweden	ACPOP	Study-wide	600	C=0.427	T=0.573
SGDP_PRJ	Global	Study-wide	504	C=0.171	T=0.829
Qatari	Global	Study-wide	216	C=0.273	T=0.727
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	72	C=0.22	T=0.78
Siberian	Global	Study-wide	50	C=0.22	T=0.78
The Danish reference pan genome	Danish	Study-wide	40	C=0.53	T=0.47

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 6	NC_000006.12:g.32713854C>A
GRCh38.p14 chr 6	NC_000006.12:g.32713854C>G
GRCh38.p14 chr 6	NC_000006.12:g.32713854C>T
GRCh37.p13 chr 6	NC_000006.11:g.32681631C>A
GRCh37.p13 chr 6	NC_000006.11:g.32681631C>G
GRCh37.p13 chr 6	NC_000006.11:g.32681631C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4127140C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4127140C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4127140C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4127246C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4127246C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4127246C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3908104C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3908104C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3908104C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3913700C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3913700C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3913700C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3957956T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3957956T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3957956T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3963541T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3963541T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3963541T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4113978T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4113978T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4113978T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4113276T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4113276T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4113276T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4133157T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4133157T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4133157T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4138777T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4138777T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4138777T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4012588T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4012588T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4012588T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4018173T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4018173T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4018173T>G

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

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	C=	A	G	T
GRCh38.p14 chr 6	NC_000006.12:g.32713854=	NC_000006.12:g.32713854C>A	NC_000006.12:g.32713854C>G	NC_000006.12:g.32713854C>T
GRCh37.p13 chr 6	NC_000006.11:g.32681631=	NC_000006.11:g.32681631C>A	NC_000006.11:g.32681631C>G	NC_000006.11:g.32681631C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.4127140=	NT_113891.3:g.4127140C>A	NT_113891.3:g.4127140C>G	NT_113891.3:g.4127140C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.4127246=	NT_113891.2:g.4127246C>A	NT_113891.2:g.4127246C>G	NT_113891.2:g.4127246C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3908104=	NT_167248.2:g.3908104C>A	NT_167248.2:g.3908104C>G	NT_167248.2:g.3908104C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3913700=	NT_167248.1:g.3913700C>A	NT_167248.1:g.3913700C>G	NT_167248.1:g.3913700C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3957956T>C	NT_167245.2:g.3957956T>A	NT_167245.2:g.3957956T>G	NT_167245.2:g.3957956=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3963541T>C	NT_167245.1:g.3963541T>A	NT_167245.1:g.3963541T>G	NT_167245.1:g.3963541=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.4113978T>C	NT_167249.2:g.4113978T>A	NT_167249.2:g.4113978T>G	NT_167249.2:g.4113978=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.4113276T>C	NT_167249.1:g.4113276T>A	NT_167249.1:g.4113276T>G	NT_167249.1:g.4113276=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.4133157T>C	NT_167246.2:g.4133157T>A	NT_167246.2:g.4133157T>G	NT_167246.2:g.4133157=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.4138777T>C	NT_167246.1:g.4138777T>A	NT_167246.1:g.4138777T>G	NT_167246.1:g.4138777=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.4012588T>C	NT_167247.2:g.4012588T>A	NT_167247.2:g.4012588T>G	NT_167247.2:g.4012588=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.4018173T>C	NT_167247.1:g.4018173T>A	NT_167247.1:g.4018173T>G	NT_167247.1:g.4018173=

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#.

154 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12700691	Oct 31, 2003 (118)
2	ILLUMINA	ss67897336	Nov 30, 2006 (127)
3	ILLUMINA	ss68031105	Nov 30, 2006 (127)
4	ILLUMINA	ss68299537	Dec 12, 2006 (127)
5	ILLUMINA	ss71595760	May 17, 2007 (127)
6	ILLUMINA	ss75701131	Dec 07, 2007 (129)
7	KRIBB_YJKIM	ss84793169	Dec 14, 2007 (130)
8	HGSV	ss85490425	Dec 14, 2007 (130)
9	ILLUMINA	ss98238802	May 24, 2008 (130)
10	HUMANGENOME_JCVI	ss98383907	Feb 04, 2009 (130)
11	1000GENOMES	ss109920644	Feb 13, 2009 (136)
12	1000GENOMES	ss114167122	Jan 25, 2009 (136)
13	ILLUMINA-UK	ss116403947	Feb 14, 2009 (130)
14	ENSEMBL	ss133803253	Dec 01, 2009 (131)
15	ILLUMINA	ss154483022	Dec 01, 2009 (131)
16	ILLUMINA	ss159657251	Dec 01, 2009 (131)
17	ILLUMINA	ss160971031	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss162216868	Jul 04, 2010 (135)
19	COMPLETE_GENOMICS	ss163371189	Jul 04, 2010 (135)
20	COMPLETE_GENOMICS	ss166460346	Jul 04, 2010 (135)
21	ILLUMINA	ss174790570	Jul 04, 2010 (135)
22	BUSHMAN	ss201649526	Jul 04, 2010 (135)
23	BCM-HGSC-SUB	ss207391721	Jul 04, 2010 (135)
24	1000GENOMES	ss222318592	Jul 14, 2010 (136)
25	1000GENOMES	ss233415982	Jul 14, 2010 (136)
26	1000GENOMES	ss240482946	Jul 15, 2010 (136)
27	BL	ss254213328	May 09, 2011 (136)
28	GMI	ss278741640	May 04, 2012 (137)
29	GMI	ss285380927	Apr 25, 2013 (138)
30	PJP	ss293831306	May 09, 2011 (136)
31	ILLUMINA	ss410956638	Sep 17, 2011 (136)
32	ILLUMINA	ss481849182	May 04, 2012 (137)
33	ILLUMINA	ss481881902	May 04, 2012 (137)
34	ILLUMINA	ss482841765	Sep 08, 2015 (146)
35	ILLUMINA	ss485719018	May 04, 2012 (137)
36	EXOME_CHIP	ss491383563	May 04, 2012 (137)
37	ILLUMINA	ss537579749	Sep 08, 2015 (146)
38	TISHKOFF	ss559120880	Apr 25, 2013 (138)
39	SSMP	ss653052380	Apr 25, 2013 (138)
40	ILLUMINA	ss779004702	Sep 08, 2015 (146)
41	ILLUMINA	ss780687281	Sep 08, 2015 (146)
42	ILLUMINA	ss783305164	Sep 08, 2015 (146)
43	ILLUMINA	ss783360831	Sep 08, 2015 (146)
44	ILLUMINA	ss784257367	Sep 08, 2015 (146)
45	ILLUMINA	ss832566552	Sep 08, 2015 (146)
46	ILLUMINA	ss833168040	Jul 13, 2019 (153)
47	ILLUMINA	ss834467110	Sep 08, 2015 (146)
48	EVA-GONL	ss982786412	Aug 21, 2014 (142)
49	JMKIDD_LAB	ss1073512817	Aug 21, 2014 (142)
50	1000GENOMES	ss1319598251	Aug 21, 2014 (142)
51	EVA_GENOME_DK	ss1581614952	Apr 01, 2015 (144)
52	EVA_DECODE	ss1592320662	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1615292338	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1658286371	Apr 01, 2015 (144)
55	EVA_SVP	ss1712852534	Apr 01, 2015 (144)
56	ILLUMINA	ss1752631208	Sep 08, 2015 (146)
57	ILLUMINA	ss1752631209	Sep 08, 2015 (146)
58	HAMMER_LAB	ss1804367541	Sep 08, 2015 (146)
59	ILLUMINA	ss1917803536	Feb 12, 2016 (147)
60	WEILL_CORNELL_DGM	ss1926044195	Feb 12, 2016 (147)
61	ILLUMINA	ss1946174712	Feb 12, 2016 (147)
62	ILLUMINA	ss1946174713	Feb 12, 2016 (147)
63	ILLUMINA	ss1958895087	Feb 12, 2016 (147)
64	ILLUMINA	ss1958895088	Feb 12, 2016 (147)
65	GENOMED	ss1970364297	Jul 19, 2016 (147)
66	JJLAB	ss2023656967	Sep 14, 2016 (149)
67	ILLUMINA	ss2094826291	Dec 20, 2016 (150)
68	ILLUMINA	ss2095180136	Dec 20, 2016 (150)
69	USC_VALOUEV	ss2151832713	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2282993356	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2626316290	Nov 08, 2017 (151)
72	ILLUMINA	ss2634433575	Nov 08, 2017 (151)
73	ILLUMINA	ss2635155874	Nov 08, 2017 (151)
74	GRF	ss2707427524	Nov 08, 2017 (151)
75	ILLUMINA	ss2711072731	Nov 08, 2017 (151)
76	AFFY	ss2985363862	Nov 08, 2017 (151)
77	AFFY	ss2985996236	Nov 08, 2017 (151)
78	SWEGEN	ss2998841338	Nov 08, 2017 (151)
79	ILLUMINA	ss3022605892	Nov 08, 2017 (151)
80	ILLUMINA	ss3022605893	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3025619632	Nov 08, 2017 (151)
82	ILLUMINA	ss3625898674	Oct 12, 2018 (152)
83	ILLUMINA	ss3629511487	Oct 12, 2018 (152)
84	ILLUMINA	ss3629511488	Oct 12, 2018 (152)
85	ILLUMINA	ss3632351656	Oct 12, 2018 (152)
86	ILLUMINA	ss3633416715	Oct 12, 2018 (152)
87	ILLUMINA	ss3634139308	Oct 12, 2018 (152)
88	ILLUMINA	ss3635059536	Oct 12, 2018 (152)
89	ILLUMINA	ss3635059537	Oct 12, 2018 (152)
90	ILLUMINA	ss3635820258	Oct 12, 2018 (152)
91	ILLUMINA	ss3636781471	Oct 12, 2018 (152)
92	ILLUMINA	ss3637573057	Oct 12, 2018 (152)
93	ILLUMINA	ss3638621846	Oct 12, 2018 (152)
94	ILLUMINA	ss3639311880	Oct 12, 2018 (152)
95	ILLUMINA	ss3639952031	Oct 12, 2018 (152)
96	ILLUMINA	ss3640766835	Oct 12, 2018 (152)
97	ILLUMINA	ss3640766836	Oct 12, 2018 (152)
98	ILLUMINA	ss3641193496	Oct 12, 2018 (152)
99	ILLUMINA	ss3641490634	Oct 12, 2018 (152)
100	ILLUMINA	ss3643563433	Oct 12, 2018 (152)
101	ILLUMINA	ss3643997038	Oct 12, 2018 (152)
102	ILLUMINA	ss3644907758	Oct 12, 2018 (152)
103	ILLUMINA	ss3644907759	Oct 12, 2018 (152)
104	URBANLAB	ss3648321990	Oct 12, 2018 (152)
105	ILLUMINA	ss3653119779	Oct 12, 2018 (152)
106	ILLUMINA	ss3653119780	Oct 12, 2018 (152)
107	ILLUMINA	ss3654129622	Oct 12, 2018 (152)
108	EGCUT_WGS	ss3666728920	Jul 13, 2019 (153)
109	EVA_DECODE	ss3716939555	Jul 13, 2019 (153)
110	ILLUMINA	ss3726333744	Jul 13, 2019 (153)
111	ACPOP	ss3733381909	Jul 13, 2019 (153)
112	ILLUMINA	ss3744269463	Jul 13, 2019 (153)
113	ILLUMINA	ss3744551969	Jul 13, 2019 (153)
114	ILLUMINA	ss3745359493	Jul 13, 2019 (153)
115	ILLUMINA	ss3745359494	Jul 13, 2019 (153)
116	EVA	ss3764846693	Jul 13, 2019 (153)
117	PAGE_CC	ss3771282368	Jul 13, 2019 (153)
118	ILLUMINA	ss3772853167	Jul 13, 2019 (153)
119	ILLUMINA	ss3772853168	Jul 13, 2019 (153)
120	PACBIO	ss3785437425	Jul 13, 2019 (153)
121	PACBIO	ss3790794580	Jul 13, 2019 (153)
122	PACBIO	ss3795673156	Jul 13, 2019 (153)
123	KHV_HUMAN_GENOMES	ss3808002904	Jul 13, 2019 (153)
124	EVA	ss3829850693	Apr 26, 2020 (154)
125	EVA	ss3838402895	Apr 26, 2020 (154)
126	EVA	ss3843846858	Apr 26, 2020 (154)
127	HGDP	ss3847829619	Apr 26, 2020 (154)
128	SGDP_PRJ	ss3864302556	Apr 26, 2020 (154)
129	KRGDB	ss3911080553	Apr 26, 2020 (154)
130	EVA	ss3985214601	Apr 26, 2021 (155)
131	EVA	ss4017267865	Apr 26, 2021 (155)
132	VINODS	ss4025195638	Apr 26, 2021 (155)
133	VINODS	ss4025252264	Apr 26, 2021 (155)
134	VINODS	ss4025273465	Apr 26, 2021 (155)
135	VINODS	ss4025294534	Apr 26, 2021 (155)
136	TOPMED	ss4698587186	Apr 26, 2021 (155)
137	TOMMO_GENOMICS	ss5176911619	Apr 26, 2021 (155)
138	1000G_HIGH_COVERAGE	ss5267973427	Oct 13, 2022 (156)
139	EVA	ss5315144689	Oct 13, 2022 (156)
140	EVA	ss5364779013	Oct 13, 2022 (156)
141	HUGCELL_USP	ss5465694833	Oct 13, 2022 (156)
142	EVA	ss5508437958	Oct 13, 2022 (156)
143	1000G_HIGH_COVERAGE	ss5553648727	Oct 13, 2022 (156)
144	SANFORD_IMAGENETICS	ss5624625314	Oct 13, 2022 (156)
145	SANFORD_IMAGENETICS	ss5640131180	Oct 13, 2022 (156)
146	TOMMO_GENOMICS	ss5714781887	Oct 13, 2022 (156)
147	EVA	ss5799684648	Oct 13, 2022 (156)
148	YY_MCH	ss5807344307	Oct 13, 2022 (156)
149	EVA	ss5842050546	Oct 13, 2022 (156)
150	EVA	ss5847292216	Oct 13, 2022 (156)
151	EVA	ss5855296042	Oct 13, 2022 (156)
152	EVA	ss5883278429	Oct 13, 2022 (156)
153	EVA	ss5968620377	Oct 13, 2022 (156)
154	EVA	ss5979781952	Oct 13, 2022 (156)
155	1000Genomes	NC_000006.11 - 32681631	Oct 12, 2018 (152)
156	1000Genomes_30x	NC_000006.12 - 32713854	Oct 13, 2022 (156)
157	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32681631	Oct 12, 2018 (152)
158	Genetic variation in the Estonian population	NC_000006.11 - 32681631	Oct 12, 2018 (152)
159	The Danish reference pan genome	NC_000006.11 - 32681631	Apr 26, 2020 (154)
160	gnomAD - Genomes	NC_000006.12 - 32713854	Apr 26, 2021 (155)
161	Genome of the Netherlands Release 5	NC_000006.11 - 32681631	Apr 26, 2020 (154)
162	HGDP-CEPH-db Supplement 1	NC_000006.10 - 32789609	Apr 26, 2020 (154)
163	HapMap	NC_000006.12 - 32713854	Apr 26, 2020 (154)
164	KOREAN population from KRGDB	NC_000006.11 - 32681631	Apr 26, 2020 (154)
165	Northern Sweden	NC_000006.11 - 32681631	Jul 13, 2019 (153)
166	The PAGE Study	NC_000006.12 - 32713854	Jul 13, 2019 (153)
167	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 32681631	Apr 26, 2021 (155)
168	Qatari	NC_000006.11 - 32681631	Apr 26, 2020 (154)
169	SGDP_PRJ	NC_000006.11 - 32681631	Apr 26, 2020 (154)
170	Siberian	NC_000006.11 - 32681631	Apr 26, 2020 (154)
171	8.3KJPN	NC_000006.11 - 32681631	Apr 26, 2021 (155)
172	14KJPN	NC_000006.12 - 32713854	Oct 13, 2022 (156)
173	TopMed	NC_000006.12 - 32713854	Apr 26, 2021 (155)
174	UK 10K study - Twins	NC_000006.11 - 32681631	Oct 12, 2018 (152)
175	ALFA	NC_000006.12 - 32713854	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)
rs57771637	May 24, 2008 (130)
rs113246511	Sep 17, 2011 (135)
rs115135027	Mar 28, 2012 (136)
rs117056462	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
18257947, ss3911080553	NC_000006.11:32681630:C:A	NC_000006.12:32713853:C:A	(self)
18257947, ss3911080553	NC_000006.11:32681630:C:G	NC_000006.12:32713853:C:G	(self)
ss12700691, ss85490425, ss3639311880, ss3639952031, ss3643997038	NC_000006.9:32789608:C:T	NC_000006.12:32713853:C:T	(self)
507511, ss109920644, ss114167122, ss116403947, ss162216868, ss163371189, ss166460346, ss201649526, ss207391721, ss254213328, ss278741640, ss285380927, ss293831306, ss481849182, ss1592320662, ss1712852534, ss2635155874, ss3643563433, ss3847829619	NC_000006.10:32789608:C:T	NC_000006.12:32713853:C:T	(self)
31367037, 17483898, 12467168, 7779891, 7780851, 18257947, 6666774, 440528, 8086125, 16319536, 4349067, 34880926, 17483898, ss222318592, ss233415982, ss240482946, ss481881902, ss482841765, ss485719018, ss491383563, ss537579749, ss559120880, ss653052380, ss779004702, ss780687281, ss783305164, ss783360831, ss784257367, ss832566552, ss833168040, ss834467110, ss982786412, ss1073512817, ss1319598251, ss1581614952, ss1615292338, ss1658286371, ss1752631208, ss1752631209, ss1804367541, ss1917803536, ss1926044195, ss1946174712, ss1946174713, ss1958895087, ss1958895088, ss1970364297, ss2023656967, ss2094826291, ss2095180136, ss2151832713, ss2626316290, ss2634433575, ss2707427524, ss2711072731, ss2985363862, ss2985996236, ss2998841338, ss3022605892, ss3022605893, ss3625898674, ss3629511487, ss3629511488, ss3632351656, ss3633416715, ss3634139308, ss3635059536, ss3635059537, ss3635820258, ss3636781471, ss3637573057, ss3638621846, ss3640766835, ss3640766836, ss3641193496, ss3641490634, ss3644907758, ss3644907759, ss3653119779, ss3653119780, ss3654129622, ss3666728920, ss3733381909, ss3744269463, ss3744551969, ss3745359493, ss3745359494, ss3764846693, ss3772853167, ss3772853168, ss3785437425, ss3790794580, ss3795673156, ss3829850693, ss3838402895, ss3864302556, ss3911080553, ss3985214601, ss4017267865, ss5176911619, ss5315144689, ss5364779013, ss5508437958, ss5624625314, ss5640131180, ss5799684648, ss5842050546, ss5847292216, ss5968620377, ss5979781952	NC_000006.11:32681630:C:T	NC_000006.12:32713853:C:T	(self)
41174662, 221434437, 3102888, 503837, 48618991, 535964744, 5945223624, ss2282993356, ss3025619632, ss3648321990, ss3716939555, ss3726333744, ss3771282368, ss3808002904, ss3843846858, ss4698587186, ss5267973427, ss5465694833, ss5553648727, ss5714781887, ss5807344307, ss5855296042, ss5883278429	NC_000006.12:32713853:C:T	NC_000006.12:32713853:C:T	(self)
ss67897336, ss68031105, ss68299537, ss71595760, ss75701131, ss84793169, ss98238802, ss98383907, ss133803253, ss154483022, ss159657251, ss160971031, ss174790570, ss410956638	NT_007592.15:32621630:C:T	NC_000006.12:32713853:C:T	(self)
ss4025195638	NT_113891.3:4127139:C:T	NC_000006.12:32713853:C:T	(self)
ss4025252264	NT_167247.2:4012587:T:T	NC_000006.12:32713853:C:T	(self)
ss4025273465	NT_167248.2:3908103:C:T	NC_000006.12:32713853:C:T	(self)
ss4025294534	NT_167249.2:4113977:T:T	NC_000006.12:32713853:C:T	(self)

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

12 citations for rs9275596

PMID	Title	Author	Year	Journal
20018067	A two-stage search strategy for detecting multiple loci associated with rheumatoid arthritis.	Chanda P et al.	2009	BMC proceedings
21244703	Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.	Wang JH et al.	2011	Genome medicine
21399633	Genome-wide association study identifies susceptibility loci for IgA nephropathy.	Gharavi AG et al.	2011	Nature genetics
24811838	Cumulative effects of variants identified by genome-wide association studies in IgA nephropathy.	Zhou XJ et al.	2014	Scientific reports
25710614	Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children.	Hong X et al.	2015	Nature communications
25928883	Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae.	Anderson D et al.	2015	Genes and immunity
27450519	Replication of genome-wide association study identified seven susceptibility genes, affirming the effect of rs2856717 on renal function and poor outcome of IgA nephropathy.	Wang W et al.	2017	Nephrology (Carlton, Vic.)
28929317	Risk alleles for IgA nephropathy-associated SNPs conferred completely opposite effects to idiopathic membranous nephropathy in Chinese Han.	Qin X et al.	2017	Immunologic research
29985321	Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry.	Ashley SE et al.	2018	Journal of visualized experiments
30154825	To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.	Wallace AD et al.	2018	Frontiers in genetics
32244438	An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians.	Paramonova N et al.	2020	Medicina (Kaunas, Lithuania)
33175217	Association of HLA-DQ and IL13 gene variants with challenge-proven shrimp allergy in West Bengal, India.	Laha A et al.	2020	Immunogenetics

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9275596