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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.

rs2187668

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr6:32638107 (GRCh38.p12) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.118102 (15752/133376, dbGaP Population Frequency Project)
T=0.08445 (6645/78690, PAGE_STUDY)
T=0.0777 (389/5008, 1000G) (+ 14 more)
T=0.1326 (511/3854, ALSPAC)
T=0.1254 (465/3708, TWINSUK)
T=0.0482 (141/2928, KOREAN)
T=0.1192 (248/2080, HGDP_Stanford)
T=0.0868 (164/1890, HapMap)
T=0.0915 (104/1136, Daghestan)
T=0.137 (137/998, GoNL)
T=0.103 (62/600, NorthernSweden)
T=0.139 (30/216, Qatari)
T=0.090 (19/212, Vietnamese)
C=0.418 (46/110, SGDP_PRJ)
T=0.47 (19/40, GENOME_DK)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HLA-DQA1 : Intron Variant
LOC107986589 : Non Coding Transcript Variant
Publications
52 citations
Genomic View
See rs on genome
Help

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

Genomic Placements
Sequence name Change
GRCh38.p12 chr 6 NC_000006.12:g.32638107C>T
GRCh37.p13 chr 6 NC_000006.11:g.32605884C>T
HLA-DQA1 RefSeqGene NG_032876.1:g.5702C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4056171T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4056277T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3837140T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3842736T>C
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3882026C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3887611C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4040038C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4039336C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4056424C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4062044C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3939169C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3944754C>T
Gene: HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HLA-DQA1 transcript NM_002122.5:c.82+567C>T N/A Intron Variant
HLA-DQA1 transcript variant X1 XM_006715079.4:c.82+567C>T N/A Intron Variant
Gene: LOC107986589, uncharacterized LOC107986589 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107986589 transcript XR_001744085.1:n.2461G>A N/A Non Coding Transcript Variant
Help

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

Not Reported in ClinVar
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
ALFA Total Global 133376 C=0.881898 T=0.118102
ALFA European Sub 111528 C=0.882837 T=0.117163
ALFA Latin American 2 Sub 6314 C=0.8684 T=0.1316
ALFA Other Sub 5516 C=0.8867 T=0.1133
ALFA South Asian Sub 4838 C=0.8227 T=0.1773
ALFA African Sub 4832 C=0.9292 T=0.0708
ALFA Latin American 1 Sub 228 C=0.895 T=0.105
ALFA Asian Sub 120 C=0.958 T=0.042
The PAGE Study Global Study-wide 78690 C=0.91555 T=0.08445
The PAGE Study AfricanAmerican Sub 32510 C=0.92387 T=0.07613
The PAGE Study Mexican Sub 10806 C=0.87044 T=0.12956
The PAGE Study Asian Sub 8318 C=0.9592 T=0.0408
The PAGE Study PuertoRican Sub 7918 C=0.9250 T=0.0750
The PAGE Study NativeHawaiian Sub 4534 C=0.9409 T=0.0591
The PAGE Study Cuban Sub 4230 C=0.9009 T=0.0991
The PAGE Study Dominican Sub 3826 C=0.9179 T=0.0821
The PAGE Study CentralAmerican Sub 2450 C=0.8922 T=0.1078
The PAGE Study SouthAmerican Sub 1982 C=0.8527 T=0.1473
The PAGE Study NativeAmerican Sub 1260 C=0.8302 T=0.1698
The PAGE Study SouthAsian Sub 856 C=0.923 T=0.077
1000Genomes Global Study-wide 5008 C=0.9223 T=0.0777
1000Genomes African Sub 1322 C=0.9463 T=0.0537
1000Genomes East Asian Sub 1008 C=0.9484 T=0.0516
1000Genomes Europe Sub 1006 C=0.8936 T=0.1064
1000Genomes South Asian Sub 978 C=0.921 T=0.079
1000Genomes American Sub 694 C=0.882 T=0.118
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8674 T=0.1326
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8746 T=0.1254
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.9518 T=0.0482
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 C=0.8808 T=0.1192
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.913 T=0.087
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 410 C=0.793 T=0.207
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.866 T=0.134
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.881 T=0.119
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.921 T=0.079
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.917 T=0.083
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=1.00 T=0.00
HapMap Global Study-wide 1890 C=0.9132 T=0.0868
HapMap American Sub 770 C=0.906 T=0.094
HapMap African Sub 690 C=0.916 T=0.084
HapMap Asian Sub 254 C=0.945 T=0.055
HapMap Europe Sub 176 C=0.886 T=0.114
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9085 T=0.0915
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.914 T=0.086
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.875 T=0.125
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.877 T=0.123
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.907 T=0.093
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.99 T=0.01
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.83 T=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.863 T=0.137
Northern Sweden ACPOP Study-wide 600 C=0.897 T=0.103
Qatari Global Study-wide 216 C=0.861 T=0.139
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.910 T=0.090
SGDP_PRJ Global Study-wide 110 C=0.418 T=0.582
The Danish reference pan genome Danish Study-wide 40 C=0.53 T=0.47
Siberian Global Study-wide 8 C=0.5 T=0.5
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 C= T
GRCh38.p12 chr 6 NC_000006.12:g.32638107= NC_000006.12:g.32638107C>T
GRCh37.p13 chr 6 NC_000006.11:g.32605884= NC_000006.11:g.32605884C>T
HLA-DQA1 RefSeqGene NG_032876.1:g.5702= NG_032876.1:g.5702C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4056171T>C NT_113891.3:g.4056171=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4056277T>C NT_113891.2:g.4056277=
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3837140T>C NT_167248.2:g.3837140=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3842736T>C NT_167248.1:g.3842736=
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3882026= NT_167245.2:g.3882026C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3887611= NT_167245.1:g.3887611C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4040038= NT_167249.2:g.4040038C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4039336= NT_167249.1:g.4039336C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4056424= NT_167246.2:g.4056424C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4062044= NT_167246.1:g.4062044C>T
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3939169= NT_167247.2:g.3939169C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3944754= NT_167247.1:g.3944754C>T
LOC107986589 transcript XR_001744085.1:n.2461= XR_001744085.1:n.2461G>A
HLA-DQA1 transcript NM_002122.3:c.82+567= NM_002122.3:c.82+567C>T
HLA-DQA1 transcript NM_002122.5:c.82+567= NM_002122.5:c.82+567C>T
HLA-DQA1 transcript variant X1 XM_003846467.2:c.82+567= XM_003846467.2:c.82+567C>T
HLA-DQA1 transcript variant X2 XM_003846468.2:c.82+567= XM_003846468.2:c.82+567C>T
HLA-DQA1 transcript variant X1 XM_005249049.1:c.82+567= XM_005249049.1:c.82+567C>T
HLA-DQA1 transcript variant X1 XM_005274953.1:c.82+567= XM_005274953.1:c.82+567C>T
HLA-DQA1 transcript variant X2 XM_005274954.1:c.67+582= XM_005274954.1:c.67+582C>T
HLA-DQA1 transcript variant X1 XM_005275108.1:c.82+567= XM_005275108.1:c.82+567C>T
HLA-DQA1 transcript variant X2 XM_005275109.1:c.67+582= XM_005275109.1:c.67+582C>T
HLA-DQA1 transcript variant X3 XM_005275332.1:c.67+582= XM_005275332.1:c.67+582C>T
HLA-DQA1 transcript variant X4 XM_005275333.1:c.82+567= XM_005275333.1:c.82+567C>T
HLA-DQA1 transcript variant X1 XM_005275542.1:c.82+567= XM_005275542.1:c.82+567C>T
HLA-DQA1 transcript variant X2 XM_005275543.1:c.67+582= XM_005275543.1:c.67+582C>T
HLA-DQA1 transcript variant X3 XM_005275544.1:c.82+567= XM_005275544.1:c.82+567C>T
HLA-DQA1 transcript variant X1 XM_006715079.4:c.82+567= XM_006715079.4:c.82+567C>T
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#.

117 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3126485 Jun 15, 2001 (96)
2 TSC-CSHL ss5230665 Oct 10, 2002 (110)
3 SI_MHC_SNP ss12697448 Oct 31, 2003 (123)
4 SC_SNP ss13097238 Dec 05, 2003 (119)
5 ABI ss43496494 Mar 16, 2006 (130)
6 UWGC ss50398153 Mar 15, 2006 (126)
7 KRIBB_YJKIM ss65843991 Dec 02, 2006 (127)
8 ILLUMINA ss66611730 Dec 02, 2006 (127)
9 ILLUMINA ss67231915 Dec 02, 2006 (127)
10 ILLUMINA ss67627531 Dec 02, 2006 (127)
11 ILLUMINA ss70710240 May 23, 2008 (130)
12 ILLUMINA ss71277445 May 18, 2007 (127)
13 ILLUMINA ss75448657 Dec 07, 2007 (129)
14 AFFY ss76612088 Dec 08, 2007 (130)
15 ILLUMINA ss79119186 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss83991908 Dec 14, 2007 (130)
17 BGI ss104299528 Feb 23, 2009 (130)
18 1000GENOMES ss109917325 Feb 13, 2009 (137)
19 ILLUMINA ss121942437 Dec 01, 2009 (136)
20 ILLUMINA ss153876705 Dec 01, 2009 (136)
21 GMI ss156764850 Dec 01, 2009 (136)
22 ILLUMINA ss159366307 Dec 01, 2009 (136)
23 ILLUMINA ss160512196 Dec 01, 2009 (136)
24 ILLUMINA ss171074922 Jul 04, 2010 (136)
25 ILLUMINA ss173166976 Jul 04, 2010 (136)
26 1000GENOMES ss222314960 Jul 14, 2010 (137)
27 1000GENOMES ss233412119 Jul 14, 2010 (137)
28 1000GENOMES ss240479714 Jul 15, 2010 (137)
29 BL ss254209767 May 09, 2011 (137)
30 GMI ss278738717 May 04, 2012 (137)
31 ILLUMINA ss410920223 Sep 17, 2011 (137)
32 ILLUMINA ss480455715 May 04, 2012 (137)
33 ILLUMINA ss480469811 May 04, 2012 (137)
34 ILLUMINA ss481263106 Sep 08, 2015 (146)
35 ILLUMINA ss485025346 May 04, 2012 (137)
36 EXOME_CHIP ss491383410 May 04, 2012 (137)
37 ILLUMINA ss536213535 Sep 08, 2015 (146)
38 SSMP ss653049081 Apr 25, 2013 (138)
39 ILLUMINA ss780673042 Sep 08, 2015 (146)
40 ILLUMINA ss780683063 Sep 08, 2015 (146)
41 ILLUMINA ss782958956 Aug 21, 2014 (142)
42 ILLUMINA ss783356441 Sep 08, 2015 (146)
43 ILLUMINA ss783921073 Sep 08, 2015 (146)
44 ILLUMINA ss825449704 Apr 01, 2015 (144)
45 ILLUMINA ss832215106 Apr 01, 2015 (144)
46 ILLUMINA ss832878161 Aug 21, 2014 (142)
47 ILLUMINA ss833468991 Aug 21, 2014 (142)
48 ILLUMINA ss836169180 Sep 08, 2015 (146)
49 EVA-GONL ss982782709 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1073511890 Aug 21, 2014 (142)
51 1000GENOMES ss1319592675 Aug 21, 2014 (142)
52 HAMMER_LAB ss1397451269 Sep 08, 2015 (146)
53 EVA_GENOME_DK ss1581613340 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1615291292 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1658285325 Apr 01, 2015 (144)
56 EVA_SVP ss1712852396 Apr 01, 2015 (144)
57 ILLUMINA ss1752631061 Sep 08, 2015 (146)
58 ILLUMINA ss1752631062 Sep 08, 2015 (146)
59 ILLUMINA ss1917803484 Feb 12, 2016 (147)
60 WEILL_CORNELL_DGM ss1926039351 Feb 12, 2016 (147)
61 ILLUMINA ss1946174639 Feb 12, 2016 (147)
62 ILLUMINA ss1958893877 Feb 12, 2016 (147)
63 JJLAB ss2023653409 Sep 14, 2016 (149)
64 ILLUMINA ss2094826151 Dec 20, 2016 (150)
65 ILLUMINA ss2095179836 Dec 20, 2016 (150)
66 USC_VALOUEV ss2151828084 Dec 20, 2016 (150)
67 TOPMED ss2451369049 Dec 20, 2016 (150)
68 ILLUMINA ss2634433155 Nov 08, 2017 (151)
69 ILLUMINA ss2634433156 Nov 08, 2017 (151)
70 ILLUMINA ss2634433157 Nov 08, 2017 (151)
71 GRF ss2707422511 Nov 08, 2017 (151)
72 ILLUMINA ss2711072050 Nov 08, 2017 (151)
73 AFFY ss2985363749 Nov 08, 2017 (151)
74 AFFY ss2985996100 Nov 08, 2017 (151)
75 SWEGEN ss2998834526 Nov 08, 2017 (151)
76 ILLUMINA ss3022604706 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3025616783 Nov 08, 2017 (151)
78 TOPMED ss3494036154 Nov 08, 2017 (151)
79 ILLUMINA ss3625898633 Oct 12, 2018 (152)
80 ILLUMINA ss3629510596 Oct 12, 2018 (152)
81 ILLUMINA ss3629510597 Oct 12, 2018 (152)
82 ILLUMINA ss3632351294 Oct 12, 2018 (152)
83 ILLUMINA ss3634139209 Oct 12, 2018 (152)
84 ILLUMINA ss3635059390 Oct 12, 2018 (152)
85 ILLUMINA ss3635059391 Oct 12, 2018 (152)
86 ILLUMINA ss3635820166 Oct 12, 2018 (152)
87 ILLUMINA ss3636781026 Oct 12, 2018 (152)
88 ILLUMINA ss3637572965 Oct 12, 2018 (152)
89 ILLUMINA ss3638621706 Oct 12, 2018 (152)
90 ILLUMINA ss3639311824 Oct 12, 2018 (152)
91 ILLUMINA ss3639681414 Oct 12, 2018 (152)
92 ILLUMINA ss3640766689 Oct 12, 2018 (152)
93 ILLUMINA ss3640766690 Oct 12, 2018 (152)
94 ILLUMINA ss3641193480 Oct 12, 2018 (152)
95 ILLUMINA ss3641490617 Oct 12, 2018 (152)
96 ILLUMINA ss3643563285 Oct 12, 2018 (152)
97 ILLUMINA ss3644907687 Oct 12, 2018 (152)
98 ILLUMINA ss3653118376 Oct 12, 2018 (152)
99 ILLUMINA ss3653118377 Oct 12, 2018 (152)
100 ILLUMINA ss3654129533 Oct 12, 2018 (152)
101 EVA_DECODE ss3716934348 Jul 13, 2019 (153)
102 ILLUMINA ss3726333217 Jul 13, 2019 (153)
103 ACPOP ss3733377140 Jul 13, 2019 (153)
104 ILLUMINA ss3744551778 Jul 13, 2019 (153)
105 ILLUMINA ss3745359348 Jul 13, 2019 (153)
106 ILLUMINA ss3745359349 Jul 13, 2019 (153)
107 EVA ss3764842460 Jul 13, 2019 (153)
108 PAGE_CC ss3771281910 Jul 13, 2019 (153)
109 ILLUMINA ss3772853023 Jul 13, 2019 (153)
110 ILLUMINA ss3772853024 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3807997908 Jul 13, 2019 (153)
112 EVA ss3829846199 Apr 26, 2020 (154)
113 EVA ss3838400469 Apr 26, 2020 (154)
114 EVA ss3843843676 Apr 26, 2020 (154)
115 HGDP ss3847829562 Apr 26, 2020 (154)
116 SGDP_PRJ ss3864295934 Apr 26, 2020 (154)
117 KRGDB ss3911073889 Apr 26, 2020 (154)
118 1000Genomes NC_000006.11 - 32605884 Oct 12, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32605884 Oct 12, 2018 (152)
120 Genome-wide autozygosity in Daghestan NC_000006.10 - 32713862 Apr 26, 2020 (154)
121 The Danish reference pan genome NC_000006.11 - 32605884 Apr 26, 2020 (154)
122 Genome of the Netherlands Release 5 NC_000006.11 - 32605884 Apr 26, 2020 (154)
123 HGDP-CEPH-db Supplement 1 NC_000006.10 - 32713862 Apr 26, 2020 (154)
124 HapMap NC_000006.12 - 32638107 Apr 26, 2020 (154)
125 KOREAN population from KRGDB NC_000006.11 - 32605884 Apr 26, 2020 (154)
126 Northern Sweden NC_000006.11 - 32605884 Jul 13, 2019 (153)
127 The PAGE Study NC_000006.12 - 32638107 Jul 13, 2019 (153)
128 Qatari NC_000006.11 - 32605884 Apr 26, 2020 (154)
129 SGDP_PRJ NC_000006.11 - 32605884 Apr 26, 2020 (154)
130 Siberian NC_000006.11 - 32605884 Apr 26, 2020 (154)
131 UK 10K study - Twins NC_000006.11 - 32605884 Oct 12, 2018 (152)
132 A Vietnamese Genetic Variation Database NC_000006.11 - 32605884 Jul 13, 2019 (153)
133 dbGaP Population Frequency Project NC_000006.12 - 32638107 Apr 26, 2020 (154)
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)
rs3948779 Dec 16, 2002 (110)
rs9272481 Oct 08, 2004 (123)
rs35922537 May 23, 2006 (127)
rs36182703 May 23, 2008 (130)
rs56581219 May 23, 2008 (130)
rs57194924 May 23, 2008 (130)
rs74942078 May 04, 2012 (137)
rs77691257 Mar 28, 2012 (136)
rs111767434 Sep 17, 2011 (135)
rs386499469 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639311824, ss3639681414 NC_000006.9:32713861:C:T NC_000006.12:32638106:C:T (self)
425917, 507454, ss3126485, ss5230665, ss12697448, ss43496494, ss109917325, ss254209767, ss278738717, ss410920223, ss480455715, ss825449704, ss1397451269, ss1712852396, ss3643563285, ss3847829562 NC_000006.10:32713861:C:T NC_000006.12:32638106:C:T (self)
31361430, 17482667, 7778279, 7777790, 18251283, 6662005, 8081281, 16312914, 4344438, 17482667, 3879381, ss222314960, ss233412119, ss240479714, ss480469811, ss481263106, ss485025346, ss491383410, ss536213535, ss653049081, ss780673042, ss780683063, ss782958956, ss783356441, ss783921073, ss832215106, ss832878161, ss833468991, ss836169180, ss982782709, ss1073511890, ss1319592675, ss1581613340, ss1615291292, ss1658285325, ss1752631061, ss1752631062, ss1917803484, ss1926039351, ss1946174639, ss1958893877, ss2023653409, ss2094826151, ss2095179836, ss2151828084, ss2451369049, ss2634433155, ss2634433156, ss2634433157, ss2707422511, ss2711072050, ss2985363749, ss2985996100, ss2998834526, ss3022604706, ss3625898633, ss3629510596, ss3629510597, ss3632351294, ss3634139209, ss3635059390, ss3635059391, ss3635820166, ss3636781026, ss3637572965, ss3638621706, ss3640766689, ss3640766690, ss3641193480, ss3641490617, ss3644907687, ss3653118376, ss3653118377, ss3654129533, ss3733377140, ss3744551778, ss3745359348, ss3745359349, ss3764842460, ss3772853023, ss3772853024, ss3829846199, ss3838400469, ss3864295934, ss3911073889 NC_000006.11:32605883:C:T NC_000006.12:32638106:C:T (self)
3102511, 503379, 416025236, ss3025616783, ss3494036154, ss3716934348, ss3726333217, ss3771281910, ss3807997908, ss3843843676 NC_000006.12:32638106:C:T NC_000006.12:32638106:C:T (self)
ss13097238 NT_007592.13:23407318:T:T NC_000006.12:32638106:C:T (self)
ss50398153, ss65843991, ss66611730, ss67231915, ss67627531, ss70710240, ss71277445, ss75448657, ss76612088, ss79119186, ss83991908, ss104299528, ss121942437, ss153876705, ss156764850, ss159366307, ss160512196, ss171074922, ss173166976 NT_007592.15:32545883:C:T NC_000006.12:32638106:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

52 citations for rs2187668
PMID Title Author Year Journal
15747258 A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Miretti MM et al. 2005 American journal of human genetics
17558408 A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. van Heel DA et al. 2007 Nature genetics
17997607 Identification of two independent risk factors for lupus within the MHC in United Kingdom families. Fernando MM et al. 2007 PLoS genetics
18311140 Newly identified genetic risk variants for celiac disease related to the immune response. Hunt KA et al. 2008 Nature genetics
18509540 Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms. Monsuur AJ et al. 2008 PloS one
18832704 Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis. Caillier SJ et al. 2008 Journal of immunology (Baltimore, Md.
19176549 Genome-wide association analysis by lasso penalized logistic regression. Wu TT et al. 2009 Bioinformatics (Oxford, England)
19455305 No association of multiple type 2 diabetes loci with type 1 diabetes. Raj SM et al. 2009 Diabetologia
19458622 Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA. Santin I et al. 2009 Genes and immunity
19846760 Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. International MHC and Autoimmunity Genetics Network. et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
20176734 Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Wang K et al. 2010 Human molecular genetics
20190752 Multiple common variants for celiac disease influencing immune gene expression. Dubois PC et al. 2010 Nature genetics
20398668 Detection of celiac disease and lymphocytic enteropathy by parallel serology and histopathology in a population-based study. Walker MM et al. 2010 Gastroenterology
21049023 A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis. Field J et al. 2010 PloS one
21266329 Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs. Morahan G et al. 2011 Diabetes
21323541 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. Stanescu HC et al. 2011 The New England journal of medicine
21379322 Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. Taylor KE et al. 2011 PLoS genetics
21383967 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. Zhernakova A et al. 2011 PLoS genetics
21408207 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. Chung SA et al. 2011 PLoS genetics
21533023 Adaptations to climate-mediated selective pressures in humans. Hancock AM et al. 2011 PLoS genetics
21614020 The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus. Bronson PG et al. 2011 Genes and immunity
21831970 Evidence that HLA class I and II associations with type 1 diabetes, autoantibodies to GAD and autoantibodies to IA-2, are distinct. Howson JM et al. 2011 Diabetes
21854684 Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results. Collins AL et al. 2012 Psychological medicine
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
22025780 FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection. Smyth DJ et al. 2011 Diabetes
22077970 Abundant pleiotropy in human complex diseases and traits. Sivakumaran S et al. 2011 American journal of human genetics
22511809 Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study. Andersen MK et al. 2012 European journal of endocrinology
22541939 Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study. Alonso-Perez E et al. 2012 Arthritis research & therapy
22654485 Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. Connolly JJ et al. 2012 Journal of biomedicine & biotechnology
23049788 Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study. Alonso-Perez E et al. 2012 PloS one
23194743 Development of a high resolution melting method for genotyping of risk HLA-DQA1 and PLA2R1 alleles and ethnic distribution of these risk alleles. Cui G et al. 2013 Gene
23936387 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. Östensson M et al. 2013 PloS one
24768677 Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. de Boer YS et al. 2014 Gastroenterology
24876751 Allele and haplotype frequencies for HLA-DQ in Iranian celiac disease patients. Rostami-Nejad M et al. 2014 World journal of gastroenterology
24946689 Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus. Alonso-Perez E et al. 2014 Arthritis research & therapy
25034154 Clinical perspectives on lupus genetics: advances and opportunities. James JA et al. 2014 Rheumatic diseases clinics of North America
25827949 Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. Kunz M et al. 2015 Experimental dermatology
25829454 Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes. Brorsson CA et al. 2015 Diabetes
25920553 Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci. Coleman C et al. 2016 European journal of human genetics
26042420 Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus. Mitchell AL et al. 2015 PloS one
26324017 Immunogenetics of systemic lupus erythematosus: A comprehensive review. Ghodke-Puranik Y et al. 2015 Journal of autoimmunity
26413272 Unmet medical needs in lupus nephritis: solutions through evidence-based, personalized medicine. Anders HJ et al. 2015 Clinical kidney journal
26606652 Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. Alarcón-Riquelme ME et al. 2016 Arthritis & rheumatology (Hoboken, N.J.)
26652023 Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population. Migita K et al. 2015 BMC research notes
26798662 Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype. Ceccarelli F et al. 2015 Journal of immunology research
27449795 Shared and unique common genetic determinants between pediatric and adult celiac disease. Senapati S et al. 2016 BMC medical genomics
27871254 Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. Duffy DL et al. 2016 BMC nephrology
28056976 A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients. Paziewska A et al. 2017 BMC medical genomics
28685717 Variants in the Promoter Region of <i>HLA-DQA1</i> were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population. Qin XS et al. 2017 Chinese medical journal
28849274 Analysis of PLA2R1 and HLA-DQA1 sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy. Kaga H et al. 2018 Clinical and experimental nephrology
30383665 Association between the HLA-DQA1 rs2187668 polymorphism and risk of idiopathic membranous nephropathy: A PRISMA-compliant meta-analysis. Bao L et al. 2018 Medicine
30467913 Interaction between PLA2R1 and HLA-DQA1 variants contributes to the increased genetic susceptibility to membranous nephropathy in Western China. Wang W et al. 2019 Nephrology (Carlton, Vic.)
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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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.

Software version is: 2.0.1.post557+f76c771