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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.

rs1140343

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32661360 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.203759 (27126/133128, GnomAD_exome)
T=0.494416 (55427/112106, GnomAD)
G=0.14596 (9329/63916, ExAC) (+ 13 more)
T=0.42187 (26357/62476, ALFA)
T=0.48015 (13543/28206, 14KJPN)
T=0.44797 (7508/16760, 8.3KJPN)
T=0.4468 (2861/6404, 1000G_30x)
G=0.4740 (2374/5008, 1000G)
T=0.4243 (1901/4480, Estonian)
T=0.4259 (1248/2930, KOREAN)
T=0.398 (314/788, PRJEB37584)
T=0.427 (256/600, NorthernSweden)
G=0.451 (241/534, MGP)
T=0.272 (123/452, SGDP_PRJ)
T=0.477 (103/216, Qatari)
T=0.29 (10/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HLA-DQB1 : Missense Variant
Publications
1 citation
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 62476 T=0.42187 G=0.57813
European Sub 49152 T=0.42222 G=0.57778
African Sub 3880 T=0.5093 G=0.4907
African Others Sub 116 T=0.517 G=0.483
African American Sub 3764 T=0.5090 G=0.4910
Asian Sub 3092 T=0.3328 G=0.6672
East Asian Sub 1888 T=0.3183 G=0.6817
Other Asian Sub 1204 T=0.3555 G=0.6445
Latin American 1 Sub 152 T=0.414 G=0.586
Latin American 2 Sub 632 T=0.282 G=0.718
South Asian Sub 94 T=0.49 G=0.51
Other Sub 5474 T=0.4224 G=0.5776


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
gnomAD - Exomes Global Study-wide 133128 T=0.796241 G=0.203759
gnomAD - Exomes European Sub 77636 T=0.81716 G=0.18284
gnomAD - Exomes Asian Sub 24726 T=0.75014 G=0.24986
gnomAD - Exomes American Sub 12840 T=0.75148 G=0.24852
gnomAD - Exomes African Sub 9094 T=0.8630 G=0.1370
gnomAD - Exomes Ashkenazi Jewish Sub 5408 T=0.7088 G=0.2912
gnomAD - Exomes Other Sub 3424 T=0.7836 G=0.2164
gnomAD - Genomes Global Study-wide 112106 T=0.494416 G=0.505584
gnomAD - Genomes European Sub 61196 T=0.48103 G=0.51897
gnomAD - Genomes African Sub 34920 T=0.53769 G=0.46231
gnomAD - Genomes American Sub 9490 T=0.4514 G=0.5486
gnomAD - Genomes Ashkenazi Jewish Sub 2548 T=0.4345 G=0.5655
gnomAD - Genomes East Asian Sub 2260 T=0.4588 G=0.5412
gnomAD - Genomes Other Sub 1692 T=0.4645 G=0.5355
ExAC Global Study-wide 63916 T=0.85404 G=0.14596
ExAC Europe Sub 41720 T=0.87241 G=0.12759
ExAC Asian Sub 12194 T=0.78514 G=0.21486
ExAC African Sub 6134 T=0.8399 G=0.1601
ExAC American Sub 3342 T=0.9010 G=0.0990
ExAC Other Sub 526 T=0.861 G=0.139
Allele Frequency Aggregator Total Global 62476 T=0.42187 G=0.57813
Allele Frequency Aggregator European Sub 49152 T=0.42222 G=0.57778
Allele Frequency Aggregator Other Sub 5474 T=0.4224 G=0.5776
Allele Frequency Aggregator African Sub 3880 T=0.5093 G=0.4907
Allele Frequency Aggregator Asian Sub 3092 T=0.3328 G=0.6672
Allele Frequency Aggregator Latin American 2 Sub 632 T=0.282 G=0.718
Allele Frequency Aggregator Latin American 1 Sub 152 T=0.414 G=0.586
Allele Frequency Aggregator South Asian Sub 94 T=0.49 G=0.51
14KJPN JAPANESE Study-wide 28206 T=0.48015 G=0.51985
8.3KJPN JAPANESE Study-wide 16760 T=0.44797 G=0.55203
1000Genomes_30x Global Study-wide 6404 T=0.4468 G=0.5532
1000Genomes_30x African Sub 1786 T=0.4849 G=0.5151
1000Genomes_30x Europe Sub 1266 T=0.4123 G=0.5877
1000Genomes_30x South Asian Sub 1202 T=0.5150 G=0.4850
1000Genomes_30x East Asian Sub 1170 T=0.4786 G=0.5214
1000Genomes_30x American Sub 980 T=0.300 G=0.700
1000Genomes Global Study-wide 5008 T=0.5260 G=0.4740
1000Genomes African Sub 1322 T=0.5885 G=0.4115
1000Genomes East Asian Sub 1008 T=0.5437 G=0.4563
1000Genomes Europe Sub 1006 T=0.4980 G=0.5020
1000Genomes South Asian Sub 978 T=0.574 G=0.426
1000Genomes American Sub 694 T=0.354 G=0.646
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4243 G=0.5757
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4259 G=0.5741
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.398 G=0.602
CNV burdens in cranial meningiomas CRM Sub 788 T=0.398 G=0.602
Northern Sweden ACPOP Study-wide 600 T=0.427 G=0.573
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.549 G=0.451
SGDP_PRJ Global Study-wide 452 T=0.272 G=0.728
Qatari Global Study-wide 216 T=0.477 G=0.523
Siberian Global Study-wide 34 T=0.29 G=0.71
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.32661360T>C
GRCh38.p14 chr 6 NC_000006.12:g.32661360T>G
GRCh37.p13 chr 6 NC_000006.11:g.32629137T>C
GRCh37.p13 chr 6 NC_000006.11:g.32629137T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4074325G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4074325G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4074431G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4074431G>C
HLA-DQB1 RefSeqGene NG_029922.1:g.10681C>A
HLA-DQB1 RefSeqGene NG_029922.1:g.10681C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3855289G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3855289G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3860885G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3860885G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3902208G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3902208G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3907793G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3907793G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4058611G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4058611G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4057909G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4057909G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4078834G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4078834G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4084454G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4084454G>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3957750G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3957750G>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3963335G>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3963335G>C
Gene: HLA-DQB1, major histocompatibility complex, class II, DQ beta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HLA-DQB1 transcript variant 2 NM_001243961.2:c.759A>G Q [CAA] > Q [CAG] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Gln253= Q (Gln) > Q (Gln) Synonymous Variant
HLA-DQB1 transcript variant 2 NM_001243961.2:c.759A>C Q [CAA] > H [CAC] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Gln253His Q (Gln) > H (His) Missense Variant
HLA-DQB1 transcript variant 1 NM_002123.5:c.759A>G Q [CAA] > Q [CAG] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Gln253= Q (Gln) > Q (Gln) Synonymous Variant
HLA-DQB1 transcript variant 1 NM_002123.5:c.759A>C Q [CAA] > H [CAC] Coding Sequence Variant
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Gln253His Q (Gln) > H (His) Missense Variant
Help

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

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C G
GRCh38.p14 chr 6 NC_000006.12:g.32661360= NC_000006.12:g.32661360T>C NC_000006.12:g.32661360T>G
GRCh37.p13 chr 6 NC_000006.11:g.32629137= NC_000006.11:g.32629137T>C NC_000006.11:g.32629137T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4074325G>T NT_113891.3:g.4074325G>C NT_113891.3:g.4074325=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4074431G>T NT_113891.2:g.4074431G>C NT_113891.2:g.4074431=
HLA-DQB1 RefSeqGene NG_029922.1:g.10681C>A NG_029922.1:g.10681C>G NG_029922.1:g.10681=
HLA-DQB1 transcript variant 1 NM_002123.5:c.759= NM_002123.5:c.759A>G NM_002123.5:c.759A>C
HLA-DQB1 transcript variant 1 NM_002123.4:c.759= NM_002123.4:c.759A>G NM_002123.4:c.759A>C
HLA-DQB1 transcript variant 2 NM_001243961.2:c.759= NM_001243961.2:c.759A>G NM_001243961.2:c.759A>C
HLA-DQB1 transcript variant 2 NM_001243961.1:c.759= NM_001243961.1:c.759A>G NM_001243961.1:c.759A>C
HLA-DQB1 transcript variant 3 NM_001243962.1:c.759C>A NM_001243962.1:c.759C>G NM_001243962.1:c.759=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3855289G>T NT_167248.2:g.3855289G>C NT_167248.2:g.3855289=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3860885G>T NT_167248.1:g.3860885G>C NT_167248.1:g.3860885=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3902208G>T NT_167245.2:g.3902208G>C NT_167245.2:g.3902208=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3907793G>T NT_167245.1:g.3907793G>C NT_167245.1:g.3907793=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4058611G>T NT_167249.2:g.4058611G>C NT_167249.2:g.4058611=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4057909G>T NT_167249.1:g.4057909G>C NT_167249.1:g.4057909=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4078834G>T NT_167246.2:g.4078834G>C NT_167246.2:g.4078834=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4084454G>T NT_167246.1:g.4084454G>C NT_167246.1:g.4084454=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3957750G>T NT_167247.2:g.3957750G>C NT_167247.2:g.3957750=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3963335G>T NT_167247.1:g.3963335G>C NT_167247.1:g.3963335=
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_002114.3:p.Gln253= NP_002114.3:p.Gln253= NP_002114.3:p.Gln253His
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor NP_001230890.1:p.Gln253= NP_001230890.1:p.Gln253= NP_001230890.1:p.Gln253His
HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor NP_001230891.1:p.His253Gln NP_001230891.1:p.His253Gln NP_001230891.1:p.His253=
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#.

77 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 SI_MHC_SNP ss12698590 Oct 31, 2003 (130)
2 SI_MHC_SNP ss12698591 Oct 31, 2003 (130)
3 UWGC ss50396982 Mar 15, 2006 (130)
4 1000GENOMES ss109918469 Feb 13, 2009 (130)
5 COMPLETE_GENOMICS ss162213124 Jul 04, 2010 (132)
6 COMPLETE_GENOMICS ss163366569 Jul 04, 2010 (132)
7 COMPLETE_GENOMICS ss166456350 Jul 04, 2010 (132)
8 BL ss254211467 May 09, 2011 (134)
9 GMI ss278739492 May 04, 2012 (137)
10 GMI ss285379657 Apr 25, 2013 (138)
11 EXOME_CHIP ss491383465 May 04, 2012 (137)
12 CLINSEQ_SNP ss491886931 May 04, 2012 (137)
13 DBMHC ss539209661 Oct 01, 2012 (137)
14 SSMP ss653050077 Apr 25, 2013 (138)
15 ILLUMINA ss780847945 Aug 21, 2014 (142)
16 ILLUMINA ss783531635 Aug 21, 2014 (142)
17 1000GENOMES ss1319594489 Aug 21, 2014 (142)
18 EVA_EXAC ss1688258843 Apr 01, 2015 (144)
19 EVA_MGP ss1711124064 Apr 01, 2015 (144)
20 ILLUMINA ss1752631086 Sep 08, 2015 (146)
21 HAMMER_LAB ss1804366326 Sep 08, 2015 (146)
22 ILLUMINA ss1917803495 Feb 12, 2016 (147)
23 WEILL_CORNELL_DGM ss1926040885 Feb 12, 2016 (147)
24 ILLUMINA ss1946174651 Feb 12, 2016 (147)
25 ILLUMINA ss1958894238 Feb 12, 2016 (147)
26 GENOMED ss1970363179 Jul 19, 2016 (147)
27 USC_VALOUEV ss2151829665 Dec 20, 2016 (150)
28 GRF ss2707424031 Nov 08, 2017 (151)
29 GNOMAD ss2735692714 Nov 08, 2017 (151)
30 GNOMAD ss2747595029 Nov 08, 2017 (151)
31 SWEGEN ss2998836912 Nov 08, 2017 (151)
32 ILLUMINA ss3022605050 Nov 08, 2017 (151)
33 ILLUMINA ss3629510805 Oct 12, 2018 (152)
34 ILLUMINA ss3635059416 Oct 12, 2018 (152)
35 ILLUMINA ss3640766715 Oct 12, 2018 (152)
36 ILLUMINA ss3644907698 Oct 12, 2018 (152)
37 BIOINF_KMB_FNS_UNIBA ss3645946010 Oct 12, 2018 (152)
38 OMUKHERJEE_ADBS ss3646336524 Oct 12, 2018 (152)
39 URBANLAB ss3648319666 Oct 12, 2018 (152)
40 ILLUMINA ss3653118742 Oct 12, 2018 (152)
41 EGCUT_WGS ss3666727162 Jul 13, 2019 (153)
42 ILLUMINA ss3726333315 Jul 13, 2019 (153)
43 ACPOP ss3733378715 Jul 13, 2019 (153)
44 ILLUMINA ss3744551790 Jul 13, 2019 (153)
45 ILLUMINA ss3745359373 Jul 13, 2019 (153)
46 ILLUMINA ss3772853048 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3807999627 Jul 13, 2019 (153)
48 EVA ss3829847676 Apr 26, 2020 (154)
49 EVA ss3838401306 Apr 26, 2020 (154)
50 EVA ss3843844789 Apr 26, 2020 (154)
51 SGDP_PRJ ss3864298255 Apr 26, 2020 (154)
52 KRGDB ss3911076254 Apr 26, 2020 (154)
53 EVA ss3984566424 Apr 26, 2021 (155)
54 EVA ss3986035119 Apr 26, 2021 (155)
55 VINODS ss4025194471 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5176905902 Apr 26, 2021 (155)
57 EVA ss5237023173 Apr 26, 2021 (155)
58 EVA ss5237646261 Oct 17, 2022 (156)
59 1000G_HIGH_COVERAGE ss5267970139 Oct 17, 2022 (156)
60 EVA ss5315144434 Oct 17, 2022 (156)
61 CCMU ss5316104394 Oct 17, 2022 (156)
62 1000G_HIGH_COVERAGE ss5553644342 Oct 17, 2022 (156)
63 EVA ss5623936226 Oct 17, 2022 (156)
64 SANFORD_IMAGENETICS ss5624625191 Oct 17, 2022 (156)
65 SANFORD_IMAGENETICS ss5640126971 Oct 17, 2022 (156)
66 TOMMO_GENOMICS ss5714775595 Oct 17, 2022 (156)
67 EVA ss5800129962 Oct 17, 2022 (156)
68 YY_MCH ss5807340345 Oct 17, 2022 (156)
69 EVA ss5842047890 Oct 17, 2022 (156)
70 EVA ss5847292108 Oct 17, 2022 (156)
71 EVA ss5848091424 Oct 17, 2022 (156)
72 EVA ss5848654439 Oct 17, 2022 (156)
73 EVA ss5855293931 Oct 17, 2022 (156)
74 EVA ss5883274548 Oct 17, 2022 (156)
75 EVA ss5968617222 Oct 17, 2022 (156)
76 EVA ss5979781816 Oct 17, 2022 (156)
77 EVA ss5980359446 Oct 17, 2022 (156)
78 1000Genomes NC_000006.11 - 32629137 Oct 12, 2018 (152)
79 1000Genomes_30x NC_000006.12 - 32661360 Oct 17, 2022 (156)
80 Genetic variation in the Estonian population NC_000006.11 - 32629137 Oct 12, 2018 (152)
81 ExAC NC_000006.11 - 32629137 Oct 12, 2018 (152)
82 gnomAD - Genomes NC_000006.12 - 32661360 Apr 26, 2021 (155)
83 gnomAD - Exomes NC_000006.11 - 32629137 Jul 13, 2019 (153)
84 KOREAN population from KRGDB NC_000006.11 - 32629137 Apr 26, 2020 (154)
85 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 32629137 Apr 26, 2020 (154)
86 Northern Sweden NC_000006.11 - 32629137 Jul 13, 2019 (153)
87 CNV burdens in cranial meningiomas NC_000006.11 - 32629137 Apr 26, 2021 (155)
88 Qatari NC_000006.11 - 32629137 Apr 26, 2020 (154)
89 SGDP_PRJ NC_000006.11 - 32629137 Apr 26, 2020 (154)
90 Siberian NC_000006.11 - 32629137 Apr 26, 2020 (154)
91 8.3KJPN NC_000006.11 - 32629137 Apr 26, 2021 (155)
92 14KJPN NC_000006.12 - 32661360 Oct 17, 2022 (156)
93 ALFA NC_000006.12 - 32661360 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3204407 Oct 09, 2002 (108)
rs9273623 May 24, 2008 (130)
rs9273624 Sep 24, 2004 (123)
rs12722394 Sep 24, 2004 (123)
rs17404508 May 27, 2008 (130)
rs36092604 May 23, 2006 (127)
rs116956958 Aug 16, 2010 (132)
rs281864285 Jan 09, 2013 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss12698591 NT_007592.15:32569136:T:C NC_000006.12:32661359:T:C (self)
ss109918469, ss162213124, ss163366569, ss166456350, ss254211467, ss278739492, ss285379657, ss491886931 NC_000006.10:32737114:T:G NC_000006.12:32661359:T:G (self)
31363275, 12465410, 8286485, 4834504, 18253648, 239824, 6663580, 115829, 8082815, 16315235, 4346019, 34875209, ss491383465, ss653050077, ss780847945, ss783531635, ss1319594489, ss1688258843, ss1711124064, ss1752631086, ss1804366326, ss1917803495, ss1926040885, ss1946174651, ss1958894238, ss1970363179, ss2151829665, ss2707424031, ss2735692714, ss2747595029, ss2998836912, ss3022605050, ss3629510805, ss3635059416, ss3640766715, ss3644907698, ss3646336524, ss3653118742, ss3666727162, ss3733378715, ss3744551790, ss3745359373, ss3772853048, ss3829847676, ss3838401306, ss3864298255, ss3911076254, ss3984566424, ss3986035119, ss5176905902, ss5315144434, ss5316104394, ss5623936226, ss5624625191, ss5640126971, ss5800129962, ss5842047890, ss5847292108, ss5848091424, ss5848654439, ss5968617222, ss5979781816, ss5980359446 NC_000006.11:32629136:T:G NC_000006.12:32661359:T:G (self)
41170277, 221422868, 48612699, 8974191429, ss539209661, ss3645946010, ss3648319666, ss3726333315, ss3807999627, ss3843844789, ss5237023173, ss5237646261, ss5267970139, ss5553644342, ss5714775595, ss5807340345, ss5855293931, ss5883274548 NC_000006.12:32661359:T:G NC_000006.12:32661359:T:G (self)
ss12698590, ss50396982 NT_007592.15:32569136:T:G NC_000006.12:32661359:T:G (self)
ss4025194471 NT_113891.3:4074324:G:G NC_000006.12:32661359:T:G (self)
Help

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

1 citation for rs1140343
PMID Title Author Year Journal
25349203 HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome. Gbadegesin RA et al. 2015 Journal of the American Society of Nephrology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

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

Software version is: 2.0.1.post761+d5e8e07