Name: rs3093976
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.

rs3093976

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:31535084 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.149318 (39523/264690, TOPMED)
A=0.156180 (21859/139960, GnomAD)
A=0.16918 (16882/99790, ALFA) (+ 19 more)
A=0.12385 (9747/78698, PAGE_STUDY)
A=0.07708 (2178/28258, 14KJPN)
A=0.07774 (1303/16760, 8.3KJPN)
A=0.1245 (797/6404, 1000G_30x)
A=0.1208 (605/5008, 1000G)
A=0.2071 (928/4480, Estonian)
A=0.1868 (720/3854, ALSPAC)
A=0.1901 (705/3708, TWINSUK)
A=0.0751 (220/2930, KOREAN)
A=0.1195 (226/1892, HapMap)
A=0.1139 (118/1036, Daghestan)
A=0.186 (186/998, GoNL)
A=0.235 (141/600, NorthernSweden)
A=0.081 (44/546, SGDP_PRJ)
G=0.004 (2/534, MGP)
A=0.088 (19/216, Qatari)
A=0.136 (29/214, Vietnamese)
A=0.06 (3/50, Siberian)
A=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATP6V1G2-DDX39B : Intron Variant
DDX39B : Intron Variant
Publications: 0 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	99790	A=0.16918	G=0.83082
European	Sub	81358	A=0.17708	G=0.82292
African	Sub	7592	A=0.1234	G=0.8766
African Others	Sub	250	A=0.112	G=0.888
African American	Sub	7342	A=0.1238	G=0.8762
Asian	Sub	450	A=0.111	G=0.889
East Asian	Sub	386	A=0.109	G=0.891
Other Asian	Sub	64	A=0.12	G=0.88
Latin American 1	Sub	298	A=0.111	G=0.889
Latin American 2	Sub	5032	A=0.1355	G=0.8645
South Asian	Sub	150	A=0.067	G=0.933
Other	Sub	4910	A=0.1554	G=0.8446

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	A=0.149318	G=0.850682
gnomAD - Genomes	Global	Study-wide	139960	A=0.156180	G=0.843820
gnomAD - Genomes	European	Sub	75824	A=0.18614	G=0.81386
gnomAD - Genomes	African	Sub	41910	A=0.12357	G=0.87643
gnomAD - Genomes	American	Sub	13632	A=0.13366	G=0.86634
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.0590	G=0.9410
gnomAD - Genomes	East Asian	Sub	3126	A=0.0697	G=0.9303
gnomAD - Genomes	Other	Sub	2144	A=0.1539	G=0.8461
Allele Frequency Aggregator	Total	Global	99790	A=0.16918	G=0.83082
Allele Frequency Aggregator	European	Sub	81358	A=0.17708	G=0.82292
Allele Frequency Aggregator	African	Sub	7592	A=0.1234	G=0.8766
Allele Frequency Aggregator	Latin American 2	Sub	5032	A=0.1355	G=0.8645
Allele Frequency Aggregator	Other	Sub	4910	A=0.1554	G=0.8446
Allele Frequency Aggregator	Asian	Sub	450	A=0.111	G=0.889
Allele Frequency Aggregator	Latin American 1	Sub	298	A=0.111	G=0.889
Allele Frequency Aggregator	South Asian	Sub	150	A=0.067	G=0.933
The PAGE Study	Global	Study-wide	78698	A=0.12385	G=0.87615
The PAGE Study	AfricanAmerican	Sub	32514	A=0.13028	G=0.86972
The PAGE Study	Mexican	Sub	10808	A=0.14082	G=0.85918
The PAGE Study	Asian	Sub	8318	A=0.0958	G=0.9042
The PAGE Study	PuertoRican	Sub	7918	A=0.1258	G=0.8742
The PAGE Study	NativeHawaiian	Sub	4534	A=0.0768	G=0.9232
The PAGE Study	Cuban	Sub	4230	A=0.1421	G=0.8579
The PAGE Study	Dominican	Sub	3828	A=0.1259	G=0.8741
The PAGE Study	CentralAmerican	Sub	2450	A=0.1184	G=0.8816
The PAGE Study	SouthAmerican	Sub	1982	A=0.0999	G=0.9001
The PAGE Study	NativeAmerican	Sub	1260	A=0.1611	G=0.8389
The PAGE Study	SouthAsian	Sub	856	A=0.086	G=0.914
14KJPN	JAPANESE	Study-wide	28258	A=0.07708	G=0.92292
8.3KJPN	JAPANESE	Study-wide	16760	A=0.07774	G=0.92226
1000Genomes_30x	Global	Study-wide	6404	A=0.1245	G=0.8755
1000Genomes_30x	African	Sub	1786	A=0.1316	G=0.8684
1000Genomes_30x	Europe	Sub	1266	A=0.1769	G=0.8231
1000Genomes_30x	South Asian	Sub	1202	A=0.0965	G=0.9035
1000Genomes_30x	East Asian	Sub	1170	A=0.0983	G=0.9017
1000Genomes_30x	American	Sub	980	A=0.109	G=0.891
1000Genomes	Global	Study-wide	5008	A=0.1208	G=0.8792
1000Genomes	African	Sub	1322	A=0.1203	G=0.8797
1000Genomes	East Asian	Sub	1008	A=0.0972	G=0.9028
1000Genomes	Europe	Sub	1006	A=0.1700	G=0.8300
1000Genomes	South Asian	Sub	978	A=0.098	G=0.902
1000Genomes	American	Sub	694	A=0.117	G=0.883
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.2071	G=0.7929
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1868	G=0.8132
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1901	G=0.8099
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0751	G=0.9249, T=0.0000
HapMap	Global	Study-wide	1892	A=0.1195	G=0.8805
HapMap	American	Sub	770	A=0.131	G=0.869
HapMap	African	Sub	692	A=0.107	G=0.893
HapMap	Asian	Sub	254	A=0.114	G=0.886
HapMap	Europe	Sub	176	A=0.125	G=0.875
Genome-wide autozygosity in Daghestan	Global	Study-wide	1036	A=0.1139	G=0.8861
Genome-wide autozygosity in Daghestan	Daghestan	Sub	568	A=0.129	G=0.871
Genome-wide autozygosity in Daghestan	Near_East	Sub	136	A=0.096	G=0.904
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	A=0.108	G=0.892
Genome-wide autozygosity in Daghestan	Europe	Sub	100	A=0.09	G=0.91
Genome-wide autozygosity in Daghestan	South Asian	Sub	80	A=0.11	G=0.89
Genome-wide autozygosity in Daghestan	Caucasus	Sub	32	A=0.03	G=0.97
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.186	G=0.814
Northern Sweden	ACPOP	Study-wide	600	A=0.235	G=0.765
SGDP_PRJ	Global	Study-wide	546	A=0.081	G=0.919
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.996	G=0.004
Qatari	Global	Study-wide	216	A=0.088	G=0.912
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.136	G=0.864
Siberian	Global	Study-wide	50	A=0.06	G=0.94
The Danish reference pan genome	Danish	Study-wide	40	A=0.12	G=0.88

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.31535084A>G
GRCh38.p14 chr 6	NC_000006.12:g.31535084A>T
GRCh37.p13 chr 6	NC_000006.11:g.31502861A>G
GRCh37.p13 chr 6	NC_000006.11:g.31502861A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3012417G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3012417G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3012523G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3012523G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2790945G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2790945G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2796541G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2796541G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2782856G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2782856G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2788441G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2788441G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2834368A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2834368A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2833666A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2833666A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2840155G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2840155G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2845775G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2845775G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2877026G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2877026G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2882611G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2882611G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.2867633A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.2867633A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.2817549A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.2817549A>T

Gene: DDX39B, DExD-box helicase 39B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DDX39B transcript variant 1	NM_004640.7:c.735+283T>C	N/A	Intron Variant
DDX39B transcript variant 2	NM_080598.6:c.735+283T>C	N/A	Intron Variant
DDX39B transcript variant 3	NR_037852.2:n.	N/A	Intron Variant

Gene: ATP6V1G2-DDX39B, ATP6V1G2-DDX39B readthrough (NMD candidate) (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP6V1G2-DDX39B transcript	NR_037853.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

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	A=	G	T
GRCh38.p14 chr 6	NC_000006.12:g.31535084=	NC_000006.12:g.31535084A>G	NC_000006.12:g.31535084A>T
GRCh37.p13 chr 6	NC_000006.11:g.31502861=	NC_000006.11:g.31502861A>G	NC_000006.11:g.31502861A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3012417G>A	NT_113891.3:g.3012417=	NT_113891.3:g.3012417G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3012523G>A	NT_113891.2:g.3012523=	NT_113891.2:g.3012523G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.2790945G>A	NT_167248.2:g.2790945=	NT_167248.2:g.2790945G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.2796541G>A	NT_167248.1:g.2796541=	NT_167248.1:g.2796541G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.2782856G>A	NT_167245.2:g.2782856=	NT_167245.2:g.2782856G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.2788441G>A	NT_167245.1:g.2788441=	NT_167245.1:g.2788441G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.2834368=	NT_167249.2:g.2834368A>G	NT_167249.2:g.2834368A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.2833666=	NT_167249.1:g.2833666A>G	NT_167249.1:g.2833666A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.2840155G>A	NT_167246.2:g.2840155=	NT_167246.2:g.2840155G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.2845775G>A	NT_167246.1:g.2845775=	NT_167246.1:g.2845775G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.2877026G>A	NT_167247.2:g.2877026=	NT_167247.2:g.2877026G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.2882611G>A	NT_167247.1:g.2882611=	NT_167247.1:g.2882611G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.2867633=	NT_167244.2:g.2867633A>G	NT_167244.2:g.2867633A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.2817549=	NT_167244.1:g.2817549A>G	NT_167244.1:g.2817549A>T
DDX39B transcript variant 1	NM_004640.6:c.735+283=	NM_004640.6:c.735+283T>C	NM_004640.6:c.735+283T>A
DDX39B transcript variant 1	NM_004640.7:c.735+283=	NM_004640.7:c.735+283T>C	NM_004640.7:c.735+283T>A
DDX39B transcript variant 2	NM_080598.5:c.735+283=	NM_080598.5:c.735+283T>C	NM_080598.5:c.735+283T>A
DDX39B transcript variant 2	NM_080598.6:c.735+283=	NM_080598.6:c.735+283T>C	NM_080598.6:c.735+283T>A

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#.

126 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4329299	Mar 26, 2002 (103)
2	SI_MHC_SNP	ss12691407	Oct 31, 2003 (118)
3	CSHL-HAPMAP	ss17133749	Feb 27, 2004 (120)
4	ABI	ss44702723	Mar 15, 2006 (126)
5	ILLUMINA	ss75316072	Dec 06, 2007 (129)
6	HGSV	ss77168924	Dec 06, 2007 (129)
7	HGSV	ss81171951	Dec 15, 2007 (130)
8	BCMHGSC_JDW	ss93436438	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss98379871	Feb 06, 2009 (130)
10	BGI	ss105991158	Feb 06, 2009 (130)
11	1000GENOMES	ss109901369	Feb 13, 2009 (136)
12	1000GENOMES	ss114144492	Jan 25, 2009 (136)
13	ILLUMINA-UK	ss116394552	Feb 14, 2009 (130)
14	KRIBB_YJKIM	ss119453888	Dec 01, 2009 (131)
15	ILLUMINA	ss123435709	Dec 01, 2009 (131)
16	ENSEMBL	ss143795353	Dec 01, 2009 (131)
17	ILLUMINA	ss154253130	Dec 01, 2009 (131)
18	GMI	ss156747159	Dec 01, 2009 (131)
19	ILLUMINA	ss160609403	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss162198435	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss163347993	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss166428493	Jul 04, 2010 (132)
23	ILLUMINA	ss171532924	Jul 04, 2010 (132)
24	ILLUMINA	ss173559445	Jul 04, 2010 (132)
25	BUSHMAN	ss201625581	Jul 04, 2010 (132)
26	1000GENOMES	ss222304033	Jul 14, 2010 (136)
27	1000GENOMES	ss233399083	Jul 14, 2010 (136)
28	1000GENOMES	ss240469792	Jul 15, 2010 (136)
29	BL	ss254186963	May 09, 2011 (136)
30	GMI	ss278726908	May 04, 2012 (137)
31	GMI	ss285374100	Apr 25, 2013 (138)
32	PJP	ss293825891	May 09, 2011 (136)
33	ILLUMINA	ss480749063	May 04, 2012 (137)
34	ILLUMINA	ss480764969	May 04, 2012 (137)
35	ILLUMINA	ss481652064	Sep 08, 2015 (146)
36	ILLUMINA	ss485169305	May 04, 2012 (137)
37	ILLUMINA	ss537160449	Sep 08, 2015 (146)
38	TISHKOFF	ss559114136	Apr 25, 2013 (138)
39	SSMP	ss653035340	Apr 25, 2013 (138)
40	ILLUMINA	ss778887879	Sep 08, 2015 (146)
41	ILLUMINA	ss783030862	Sep 08, 2015 (146)
42	ILLUMINA	ss783990544	Sep 08, 2015 (146)
43	ILLUMINA	ss825675138	Apr 01, 2015 (144)
44	ILLUMINA	ss832288485	Sep 08, 2015 (146)
45	ILLUMINA	ss834348945	Sep 08, 2015 (146)
46	EVA-GONL	ss982766025	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1073505787	Aug 21, 2014 (142)
48	1000GENOMES	ss1319557840	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397449883	Sep 08, 2015 (146)
50	EVA_GENOME_DK	ss1581606631	Apr 01, 2015 (144)
51	EVA_DECODE	ss1592309913	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1615277333	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1658271366	Apr 01, 2015 (144)
54	EVA_MGP	ss1711121053	Apr 01, 2015 (144)
55	EVA_SVP	ss1712851007	Apr 01, 2015 (144)
56	ILLUMINA	ss1752628576	Sep 08, 2015 (146)
57	HAMMER_LAB	ss1804358202	Sep 08, 2015 (146)
58	WEILL_CORNELL_DGM	ss1926018426	Feb 12, 2016 (147)
59	ILLUMINA	ss1958888261	Feb 12, 2016 (147)
60	GENOMED	ss1970357501	Jul 19, 2016 (147)
61	JJLAB	ss2023642337	Sep 14, 2016 (149)
62	ILLUMINA	ss2094824730	Dec 20, 2016 (150)
63	ILLUMINA	ss2095177957	Dec 20, 2016 (150)
64	USC_VALOUEV	ss2151808756	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2282944117	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2626308602	Nov 08, 2017 (151)
67	ILLUMINA	ss2634429820	Nov 08, 2017 (151)
68	GRF	ss2707402554	Nov 08, 2017 (151)
69	AFFY	ss2985994058	Nov 08, 2017 (151)
70	SWEGEN	ss2998795926	Nov 08, 2017 (151)
71	ILLUMINA	ss3022599468	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3025608322	Nov 08, 2017 (151)
73	ILLUMINA	ss3629503384	Oct 12, 2018 (152)
74	ILLUMINA	ss3632348406	Oct 12, 2018 (152)
75	ILLUMINA	ss3633415276	Oct 12, 2018 (152)
76	ILLUMINA	ss3634137757	Oct 12, 2018 (152)
77	ILLUMINA	ss3635056903	Oct 12, 2018 (152)
78	ILLUMINA	ss3635818777	Oct 12, 2018 (152)
79	ILLUMINA	ss3636778152	Oct 12, 2018 (152)
80	ILLUMINA	ss3637571561	Oct 12, 2018 (152)
81	ILLUMINA	ss3638619762	Oct 12, 2018 (152)
82	ILLUMINA	ss3640764202	Oct 12, 2018 (152)
83	ILLUMINA	ss3643561151	Oct 12, 2018 (152)
84	URBANLAB	ss3648310032	Oct 12, 2018 (152)
85	ILLUMINA	ss3653112031	Oct 12, 2018 (152)
86	EGCUT_WGS	ss3666710207	Jul 13, 2019 (153)
87	EVA_DECODE	ss3716908571	Jul 13, 2019 (153)
88	ILLUMINA	ss3726329999	Jul 13, 2019 (153)
89	ACPOP	ss3733361755	Jul 13, 2019 (153)
90	ILLUMINA	ss3745356905	Jul 13, 2019 (153)
91	EVA	ss3764822543	Jul 13, 2019 (153)
92	PAGE_CC	ss3771278870	Jul 13, 2019 (153)
93	ILLUMINA	ss3772850606	Jul 13, 2019 (153)
94	PACBIO	ss3785425654	Jul 13, 2019 (153)
95	PACBIO	ss3790785080	Jul 13, 2019 (153)
96	PACBIO	ss3795662597	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3807977869	Jul 13, 2019 (153)
98	EVA	ss3829832835	Apr 26, 2020 (154)
99	EVA	ss3838394753	Apr 26, 2020 (154)
100	EVA	ss3843836935	Apr 26, 2020 (154)
101	SGDP_PRJ	ss3864254992	Apr 26, 2020 (154)
102	KRGDB	ss3911029839	Apr 26, 2020 (154)
103	EVA	ss4017266295	Apr 26, 2021 (155)
104	VINODS	ss4025188612	Apr 26, 2021 (155)
105	TOPMED	ss4698386075	Apr 26, 2021 (155)
106	TOMMO_GENOMICS	ss5176836769	Apr 26, 2021 (155)
107	EVA	ss5237190489	Apr 26, 2021 (155)
108	1000G_HIGH_COVERAGE	ss5267936576	Oct 17, 2022 (156)
109	EVA	ss5315142212	Oct 17, 2022 (156)
110	EVA	ss5364722071	Oct 17, 2022 (156)
111	HUGCELL_USP	ss5465670643	Oct 17, 2022 (156)
112	EVA	ss5508428420	Oct 17, 2022 (156)
113	1000G_HIGH_COVERAGE	ss5553592680	Oct 17, 2022 (156)
114	SANFORD_IMAGENETICS	ss5624623725	Oct 17, 2022 (156)
115	SANFORD_IMAGENETICS	ss5640089579	Oct 17, 2022 (156)
116	TOMMO_GENOMICS	ss5714691504	Oct 17, 2022 (156)
117	EVA	ss5799683637	Oct 17, 2022 (156)
118	YY_MCH	ss5807307625	Oct 17, 2022 (156)
119	EVA	ss5842027004	Oct 17, 2022 (156)
120	EVA	ss5847290931	Oct 17, 2022 (156)
121	EVA	ss5848089623	Oct 17, 2022 (156)
122	EVA	ss5855283959	Oct 17, 2022 (156)
123	EVA	ss5883243734	Oct 17, 2022 (156)
124	EVA	ss5968591377	Oct 17, 2022 (156)
125	EVA	ss5979780089	Oct 17, 2022 (156)
126	EVA	ss5980356659	Oct 17, 2022 (156)
127	1000Genomes	NC_000006.11 - 31502861	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000006.12 - 31535084	Oct 17, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 31502861	Oct 12, 2018 (152)
130	Genome-wide autozygosity in Daghestan	NC_000006.10 - 31610840	Apr 26, 2020 (154)
131	Genetic variation in the Estonian population	NC_000006.11 - 31502861	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000006.11 - 31502861	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000006.12 - 31535084	Apr 26, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000006.11 - 31502861	Apr 26, 2020 (154)
135	HapMap	NC_000006.12 - 31535084	Apr 26, 2020 (154)
136	KOREAN population from KRGDB	NC_000006.11 - 31502861	Apr 26, 2020 (154)
137	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 31502861	Apr 26, 2020 (154)
138	Northern Sweden	NC_000006.11 - 31502861	Jul 13, 2019 (153)
139	The PAGE Study	NC_000006.12 - 31535084	Jul 13, 2019 (153)
140	Qatari	NC_000006.11 - 31502861	Apr 26, 2020 (154)
141	SGDP_PRJ	NC_000006.11 - 31502861	Apr 26, 2020 (154)
142	Siberian	NC_000006.11 - 31502861	Apr 26, 2020 (154)
143	8.3KJPN	NC_000006.11 - 31502861	Apr 26, 2021 (155)
144	14KJPN	NC_000006.12 - 31535084	Oct 17, 2022 (156)
145	TopMed	NC_000006.12 - 31535084	Apr 26, 2021 (155)
146	UK 10K study - Twins	NC_000006.11 - 31502861	Oct 12, 2018 (152)
147	A Vietnamese Genetic Variation Database	NC_000006.11 - 31502861	Jul 13, 2019 (153)
148	ALFA	NC_000006.12 - 31535084	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)
rs60526865	May 26, 2008 (130)
rs114703231	Mar 28, 2012 (136)
rs117559726	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77168924, ss81171951	NC_000006.9:31610839:A:G	NC_000006.12:31535083:A:G	(self)
424533, ss93436438, ss109901369, ss114144492, ss116394552, ss162198435, ss163347993, ss166428493, ss201625581, ss254186963, ss278726908, ss285374100, ss293825891, ss480749063, ss825675138, ss1397449883, ss1592309913, ss1712851007, ss3643561151	NC_000006.10:31610839:A:G	NC_000006.12:31535083:A:G	(self)
31325247, 17466807, 12448455, 7771570, 7764806, 18207233, 236813, 6646620, 8060356, 16271972, 4325110, 34806076, 17466807, 3873544, ss222304033, ss233399083, ss240469792, ss480764969, ss481652064, ss485169305, ss537160449, ss559114136, ss653035340, ss778887879, ss783030862, ss783990544, ss832288485, ss834348945, ss982766025, ss1073505787, ss1319557840, ss1581606631, ss1615277333, ss1658271366, ss1711121053, ss1752628576, ss1804358202, ss1926018426, ss1958888261, ss1970357501, ss2023642337, ss2094824730, ss2095177957, ss2151808756, ss2626308602, ss2634429820, ss2707402554, ss2985994058, ss2998795926, ss3022599468, ss3629503384, ss3632348406, ss3633415276, ss3634137757, ss3635056903, ss3635818777, ss3636778152, ss3637571561, ss3638619762, ss3640764202, ss3653112031, ss3666710207, ss3733361755, ss3745356905, ss3764822543, ss3772850606, ss3785425654, ss3790785080, ss3795662597, ss3829832835, ss3838394753, ss3864254992, ss3911029839, ss4017266295, ss5176836769, ss5315142212, ss5364722071, ss5508428420, ss5624623725, ss5640089579, ss5799683637, ss5842027004, ss5847290931, ss5848089623, ss5968591377, ss5979780089, ss5980356659	NC_000006.11:31502860:A:G	NC_000006.12:31535083:A:G	(self)
41118615, 221214064, 3100089, 500339, 48528608, 535763633, 12252761576, ss2282944117, ss3025608322, ss3648310032, ss3716908571, ss3726329999, ss3771278870, ss3807977869, ss3843836935, ss4698386075, ss5237190489, ss5267936576, ss5465670643, ss5553592680, ss5714691504, ss5807307625, ss5855283959, ss5883243734	NC_000006.12:31535083:A:G	NC_000006.12:31535083:A:G	(self)
ss17133749	NT_007592.13:22357469:G:G	NC_000006.12:31535083:A:G	(self)
ss4329299, ss12691407, ss44702723, ss75316072, ss98379871, ss105991158, ss119453888, ss123435709, ss143795353, ss154253130, ss156747159, ss160609403, ss171532924, ss173559445	NT_007592.15:31442860:A:G	NC_000006.12:31535083:A:G	(self)
ss4025188612	NT_113891.3:3012416:G:G	NC_000006.12:31535083:A:G	(self)
18207233, ss3911029839	NC_000006.11:31502860:A:T	NC_000006.12:31535083:A:T	(self)

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

No publications for rs3093976

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs3093976