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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.

rs2844502

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31477439 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.342140 (90561/264690, TOPMED)
A=0.353197 (71985/203810, ALFA)
A=0.335403 (46788/139498, GnomAD) (+ 19 more)
A=0.46831 (13224/28238, 14KJPN)
A=0.46597 (7804/16748, 8.3KJPN)
A=0.3720 (2382/6404, 1000G_30x)
A=0.3784 (1895/5008, 1000G)
A=0.3545 (1588/4480, Estonian)
A=0.3306 (1274/3854, ALSPAC)
A=0.3536 (1311/3708, TWINSUK)
G=0.4594 (1346/2930, KOREAN)
A=0.3282 (621/1892, HapMap)
A=0.3134 (356/1136, Daghestan)
A=0.375 (374/998, GoNL)
G=0.449 (352/784, PRJEB37584)
A=0.345 (207/600, NorthernSweden)
G=0.329 (110/334, SGDP_PRJ)
A=0.236 (51/216, Qatari)
G=0.444 (95/214, Vietnamese)
A=0.13 (8/60, Ancient Sardinia)
A=0.38 (15/40, GENOME_DK)
G=0.44 (15/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 203904 G=0.646804 A=0.353196
European Sub 171744 G=0.656925 A=0.343075
African Sub 7310 G=0.6904 A=0.3096
African Others Sub 270 G=0.689 A=0.311
African American Sub 7040 G=0.6905 A=0.3095
Asian Sub 6530 G=0.4224 A=0.5776
East Asian Sub 4706 G=0.4275 A=0.5725
Other Asian Sub 1824 G=0.4090 A=0.5910
Latin American 1 Sub 568 G=0.657 A=0.343
Latin American 2 Sub 5260 G=0.6192 A=0.3808
South Asian Sub 326 G=0.598 A=0.402
Other Sub 12166 G=0.61096 A=0.38904


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
TopMed Global Study-wide 264690 G=0.657860 A=0.342140
Allele Frequency Aggregator Total Global 203810 G=0.646803 A=0.353197
Allele Frequency Aggregator European Sub 171668 G=0.656942 A=0.343058
Allele Frequency Aggregator Other Sub 12148 G=0.61072 A=0.38928
Allele Frequency Aggregator African Sub 7310 G=0.6904 A=0.3096
Allele Frequency Aggregator Asian Sub 6530 G=0.4224 A=0.5776
Allele Frequency Aggregator Latin American 2 Sub 5260 G=0.6192 A=0.3808
Allele Frequency Aggregator Latin American 1 Sub 568 G=0.657 A=0.343
Allele Frequency Aggregator South Asian Sub 326 G=0.598 A=0.402
gnomAD - Genomes Global Study-wide 139498 G=0.664597 A=0.335403
gnomAD - Genomes European Sub 75782 G=0.66314 A=0.33686
gnomAD - Genomes African Sub 41598 G=0.69729 A=0.30271
gnomAD - Genomes American Sub 13544 G=0.64966 A=0.35034
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.6125 A=0.3875
gnomAD - Genomes East Asian Sub 3108 G=0.3829 A=0.6171
gnomAD - Genomes Other Sub 2150 G=0.6651 A=0.3349
14KJPN JAPANESE Study-wide 28238 G=0.53169 A=0.46831
8.3KJPN JAPANESE Study-wide 16748 G=0.53403 A=0.46597
1000Genomes_30x Global Study-wide 6404 G=0.6280 A=0.3720
1000Genomes_30x African Sub 1786 G=0.7223 A=0.2777
1000Genomes_30x Europe Sub 1266 G=0.6951 A=0.3049
1000Genomes_30x South Asian Sub 1202 G=0.6414 A=0.3586
1000Genomes_30x East Asian Sub 1170 G=0.3940 A=0.6060
1000Genomes_30x American Sub 980 G=0.633 A=0.367
1000Genomes Global Study-wide 5008 G=0.6216 A=0.3784
1000Genomes African Sub 1322 G=0.7118 A=0.2882
1000Genomes East Asian Sub 1008 G=0.4008 A=0.5992
1000Genomes Europe Sub 1006 G=0.6968 A=0.3032
1000Genomes South Asian Sub 978 G=0.637 A=0.363
1000Genomes American Sub 694 G=0.640 A=0.360
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6455 A=0.3545
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6694 A=0.3306
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6464 A=0.3536
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4594 A=0.5406
HapMap Global Study-wide 1892 G=0.6718 A=0.3282
HapMap American Sub 770 G=0.632 A=0.368
HapMap African Sub 692 G=0.777 A=0.223
HapMap Asian Sub 254 G=0.520 A=0.480
HapMap Europe Sub 176 G=0.648 A=0.352
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.6866 A=0.3134
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.707 A=0.293
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.701 A=0.299
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.680 A=0.320
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.593 A=0.407
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.64 A=0.36
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.69 A=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.625 A=0.375
CNV burdens in cranial meningiomas Global Study-wide 784 G=0.449 A=0.551
CNV burdens in cranial meningiomas CRM Sub 784 G=0.449 A=0.551
Northern Sweden ACPOP Study-wide 600 G=0.655 A=0.345
SGDP_PRJ Global Study-wide 334 G=0.329 A=0.671
Qatari Global Study-wide 216 G=0.764 A=0.236
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.444 A=0.556
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.87 A=0.13
The Danish reference pan genome Danish Study-wide 40 G=0.62 A=0.38
Siberian Global Study-wide 34 G=0.44 A=0.56
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.31477439G>A
GRCh37.p13 chr 6 NC_000006.11:g.31445216G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2954764A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2954870A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2733326G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2738922G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2724965G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2730550G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2776690G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2775988G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2819411A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2824996A>G
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 G= A
GRCh38.p14 chr 6 NC_000006.12:g.31477439= NC_000006.12:g.31477439G>A
GRCh37.p13 chr 6 NC_000006.11:g.31445216= NC_000006.11:g.31445216G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2954764A>G NT_113891.3:g.2954764=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2954870A>G NT_113891.2:g.2954870=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2733326= NT_167248.2:g.2733326G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2738922= NT_167248.1:g.2738922G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2724965= NT_167245.2:g.2724965G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2730550= NT_167245.1:g.2730550G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2776690= NT_167249.2:g.2776690G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2775988= NT_167249.1:g.2775988G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2819411A>G NT_167247.2:g.2819411=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2824996A>G NT_167247.1:g.2824996=
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#.

141 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4027273 Sep 28, 2001 (100)
2 SI_MHC_SNP ss12690924 Oct 31, 2003 (118)
3 SC_SNP ss14795081 Dec 05, 2003 (119)
4 SSAHASNP ss22424589 Apr 05, 2004 (121)
5 FHCRC ss23137762 Sep 20, 2004 (126)
6 PERLEGEN ss23321749 Sep 20, 2004 (123)
7 ABI ss44681367 Mar 11, 2006 (126)
8 PERLEGEN ss68971591 May 18, 2007 (127)
9 ILLUMINA ss75233739 Dec 07, 2007 (129)
10 HGSV ss77146605 Dec 07, 2007 (129)
11 HGSV ss78050154 Dec 07, 2007 (129)
12 BCMHGSC_JDW ss93436211 Mar 24, 2008 (129)
13 BGI ss105990967 Feb 04, 2009 (130)
14 1000GENOMES ss109900150 Feb 13, 2009 (137)
15 ILLUMINA-UK ss116393885 Feb 14, 2009 (130)
16 KRIBB_YJKIM ss119447900 Dec 01, 2009 (131)
17 ILLUMINA ss160588267 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss162196747 Jul 04, 2010 (132)
19 ILLUMINA ss173497753 Jul 04, 2010 (132)
20 BUSHMAN ss201624257 Jul 04, 2010 (132)
21 1000GENOMES ss222303545 Jul 14, 2010 (137)
22 1000GENOMES ss233398563 Jul 14, 2010 (137)
23 1000GENOMES ss240469342 Jul 15, 2010 (137)
24 BL ss254185475 May 09, 2011 (137)
25 GMI ss278726222 May 04, 2012 (137)
26 GMI ss285373825 Apr 25, 2013 (138)
27 PJP ss293825515 May 09, 2011 (137)
28 ILLUMINA ss410926520 Sep 17, 2011 (137)
29 ILLUMINA ss480690917 May 04, 2012 (137)
30 ILLUMINA ss480706419 May 04, 2012 (137)
31 ILLUMINA ss481567408 Sep 08, 2015 (146)
32 ILLUMINA ss485140288 May 04, 2012 (137)
33 EXOME_CHIP ss491381795 May 04, 2012 (137)
34 ILLUMINA ss537137197 Sep 08, 2015 (146)
35 TISHKOFF ss559113551 Apr 25, 2013 (138)
36 SSMP ss653034576 Apr 25, 2013 (138)
37 ILLUMINA ss778881868 Sep 08, 2015 (146)
38 ILLUMINA ss780683942 Sep 08, 2015 (146)
39 ILLUMINA ss783016431 Sep 08, 2015 (146)
40 ILLUMINA ss783357363 Sep 08, 2015 (146)
41 ILLUMINA ss783976534 Sep 08, 2015 (146)
42 ILLUMINA ss832273883 Sep 08, 2015 (146)
43 ILLUMINA ss834342877 Sep 08, 2015 (146)
44 EVA-GONL ss982765079 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1073505244 Aug 21, 2014 (142)
46 1000GENOMES ss1319556032 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397449777 Sep 08, 2015 (146)
48 EVA_GENOME_DK ss1581606165 Apr 01, 2015 (144)
49 EVA_DECODE ss1592309108 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1615276254 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1658270287 Apr 01, 2015 (144)
52 EVA_SVP ss1712850874 Apr 01, 2015 (144)
53 ILLUMINA ss1752628435 Sep 08, 2015 (146)
54 ILLUMINA ss1752628436 Sep 08, 2015 (146)
55 HAMMER_LAB ss1804357616 Sep 08, 2015 (146)
56 ILLUMINA ss1917802371 Feb 12, 2016 (147)
57 WEILL_CORNELL_DGM ss1926017469 Feb 12, 2016 (147)
58 ILLUMINA ss1946173271 Feb 12, 2016 (147)
59 ILLUMINA ss1958888007 Feb 12, 2016 (147)
60 GENOMED ss1970357114 Jul 19, 2016 (147)
61 JJLAB ss2023641676 Sep 14, 2016 (149)
62 ILLUMINA ss2094824623 Dec 20, 2016 (150)
63 ILLUMINA ss2095177855 Dec 20, 2016 (150)
64 USC_VALOUEV ss2151807982 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2282942443 Dec 20, 2016 (150)
66 SYSTEMSBIOZJU ss2626308099 Nov 08, 2017 (151)
67 ILLUMINA ss2634429559 Nov 08, 2017 (151)
68 ILLUMINA ss2634429560 Nov 08, 2017 (151)
69 GRF ss2707401613 Nov 08, 2017 (151)
70 AFFY ss2985361683 Nov 08, 2017 (151)
71 AFFY ss2985993915 Nov 08, 2017 (151)
72 SWEGEN ss2998794518 Nov 08, 2017 (151)
73 ILLUMINA ss3022599219 Nov 08, 2017 (151)
74 BIOINF_KMB_FNS_UNIBA ss3025607868 Nov 08, 2017 (151)
75 ILLUMINA ss3629502927 Oct 12, 2018 (152)
76 ILLUMINA ss3629502928 Oct 12, 2018 (152)
77 ILLUMINA ss3632348180 Oct 12, 2018 (152)
78 ILLUMINA ss3633415185 Oct 12, 2018 (152)
79 ILLUMINA ss3634137659 Oct 12, 2018 (152)
80 ILLUMINA ss3635056761 Oct 12, 2018 (152)
81 ILLUMINA ss3635056762 Oct 12, 2018 (152)
82 ILLUMINA ss3635818684 Oct 12, 2018 (152)
83 ILLUMINA ss3636777926 Oct 12, 2018 (152)
84 ILLUMINA ss3637571467 Oct 12, 2018 (152)
85 ILLUMINA ss3638619626 Oct 12, 2018 (152)
86 ILLUMINA ss3640764060 Oct 12, 2018 (152)
87 ILLUMINA ss3640764061 Oct 12, 2018 (152)
88 ILLUMINA ss3641193350 Oct 12, 2018 (152)
89 ILLUMINA ss3641490481 Oct 12, 2018 (152)
90 ILLUMINA ss3643561013 Oct 12, 2018 (152)
91 ILLUMINA ss3644906335 Oct 12, 2018 (152)
92 ILLUMINA ss3653111739 Oct 12, 2018 (152)
93 ILLUMINA ss3653111740 Oct 12, 2018 (152)
94 ILLUMINA ss3654128003 Oct 12, 2018 (152)
95 EGCUT_WGS ss3666709651 Jul 13, 2019 (153)
96 EVA_DECODE ss3716907211 Jul 13, 2019 (153)
97 ACPOP ss3733360790 Jul 13, 2019 (153)
98 ILLUMINA ss3744549796 Jul 13, 2019 (153)
99 ILLUMINA ss3745356768 Jul 13, 2019 (153)
100 ILLUMINA ss3745356769 Jul 13, 2019 (153)
101 EVA ss3764821549 Jul 13, 2019 (153)
102 ILLUMINA ss3772850471 Jul 13, 2019 (153)
103 ILLUMINA ss3772850472 Jul 13, 2019 (153)
104 PACBIO ss3785425237 Jul 13, 2019 (153)
105 PACBIO ss3790784680 Jul 13, 2019 (153)
106 PACBIO ss3795662195 Jul 13, 2019 (153)
107 KHV_HUMAN_GENOMES ss3807976929 Jul 13, 2019 (153)
108 EVA ss3829832195 Apr 26, 2020 (154)
109 EVA ss3838394250 Apr 26, 2020 (154)
110 EVA ss3843836416 Apr 26, 2020 (154)
111 SGDP_PRJ ss3864253477 Apr 26, 2020 (154)
112 KRGDB ss3911028195 Apr 26, 2020 (154)
113 EVA ss3984565619 Apr 26, 2021 (155)
114 EVA ss3985212997 Apr 26, 2021 (155)
115 EVA ss4017266187 Apr 26, 2021 (155)
116 VINODS ss4025188334 Apr 26, 2021 (155)
117 VINODS ss4025208984 Apr 26, 2021 (155)
118 VINODS ss4025247766 Apr 26, 2021 (155)
119 VINODS ss4025266362 Apr 26, 2021 (155)
120 VINODS ss4025287283 Apr 26, 2021 (155)
121 TOPMED ss4698374293 Apr 26, 2021 (155)
122 TOMMO_GENOMICS ss5176834249 Apr 26, 2021 (155)
123 1000G_HIGH_COVERAGE ss5267934701 Oct 13, 2022 (156)
124 EVA ss5315142025 Oct 13, 2022 (156)
125 EVA ss5364719754 Oct 13, 2022 (156)
126 HUGCELL_USP ss5465669223 Oct 13, 2022 (156)
127 EVA ss5508427725 Oct 13, 2022 (156)
128 1000G_HIGH_COVERAGE ss5553590303 Oct 13, 2022 (156)
129 SANFORD_IMAGENETICS ss5624623631 Oct 13, 2022 (156)
130 SANFORD_IMAGENETICS ss5640088179 Oct 13, 2022 (156)
131 TOMMO_GENOMICS ss5714688347 Oct 13, 2022 (156)
132 EVA ss5799683562 Oct 13, 2022 (156)
133 YY_MCH ss5807306534 Oct 13, 2022 (156)
134 EVA ss5842025766 Oct 13, 2022 (156)
135 EVA ss5847290840 Oct 13, 2022 (156)
136 EVA ss5848089533 Oct 13, 2022 (156)
137 EVA ss5855283441 Oct 13, 2022 (156)
138 EVA ss5883242062 Oct 13, 2022 (156)
139 EVA ss5968590166 Oct 13, 2022 (156)
140 EVA ss5979779981 Oct 13, 2022 (156)
141 EVA ss5980356445 Oct 13, 2022 (156)
142 1000Genomes NC_000006.11 - 31445216 Oct 12, 2018 (152)
143 1000Genomes_30x NC_000006.12 - 31477439 Oct 13, 2022 (156)
144 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31445216 Oct 12, 2018 (152)
145 Genome-wide autozygosity in Daghestan NC_000006.10 - 31553195 Apr 26, 2020 (154)
146 Genetic variation in the Estonian population NC_000006.11 - 31445216 Oct 12, 2018 (152)
147 The Danish reference pan genome NC_000006.11 - 31445216 Apr 26, 2020 (154)
148 gnomAD - Genomes NC_000006.12 - 31477439 Apr 26, 2021 (155)
149 Genome of the Netherlands Release 5 NC_000006.11 - 31445216 Apr 26, 2020 (154)
150 HapMap NC_000006.12 - 31477439 Apr 26, 2020 (154)
151 KOREAN population from KRGDB NC_000006.11 - 31445216 Apr 26, 2020 (154)
152 Northern Sweden NC_000006.11 - 31445216 Jul 13, 2019 (153)
153 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 31445216 Apr 26, 2021 (155)
154 CNV burdens in cranial meningiomas NC_000006.11 - 31445216 Apr 26, 2021 (155)
155 Qatari NC_000006.11 - 31445216 Apr 26, 2020 (154)
156 SGDP_PRJ NC_000006.11 - 31445216 Apr 26, 2020 (154)
157 Siberian NC_000006.11 - 31445216 Apr 26, 2020 (154)
158 8.3KJPN NC_000006.11 - 31445216 Apr 26, 2021 (155)
159 14KJPN NC_000006.12 - 31477439 Oct 13, 2022 (156)
160 TopMed NC_000006.12 - 31477439 Apr 26, 2021 (155)
161 UK 10K study - Twins NC_000006.11 - 31445216 Oct 12, 2018 (152)
162 A Vietnamese Genetic Variation Database NC_000006.11 - 31445216 Jul 13, 2019 (153)
163 ALFA NC_000006.12 - 31477439 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)
rs16899684 Oct 08, 2004 (123)
rs17206966 Mar 11, 2006 (126)
rs116717094 May 04, 2012 (137)
rs117357217 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77146605, ss78050154 NC_000006.9:31553194:G:A NC_000006.12:31477438:G:A (self)
424428, ss93436211, ss109900150, ss116393885, ss162196747, ss201624257, ss254185475, ss278726222, ss285373825, ss293825515, ss480690917, ss1397449777, ss1592309108, ss1712850874, ss3643561013 NC_000006.10:31553194:G:A NC_000006.12:31477438:G:A (self)
31323346, 17465592, 12447899, 7771104, 7763929, 18205589, 6645655, 438924, 115022, 8059399, 16270457, 4324336, 34803556, 17465592, 3873108, ss222303545, ss233398563, ss240469342, ss480706419, ss481567408, ss485140288, ss491381795, ss537137197, ss559113551, ss653034576, ss778881868, ss780683942, ss783016431, ss783357363, ss783976534, ss832273883, ss834342877, ss982765079, ss1073505244, ss1319556032, ss1581606165, ss1615276254, ss1658270287, ss1752628435, ss1752628436, ss1804357616, ss1917802371, ss1926017469, ss1946173271, ss1958888007, ss1970357114, ss2023641676, ss2094824623, ss2095177855, ss2151807982, ss2626308099, ss2634429559, ss2634429560, ss2707401613, ss2985361683, ss2985993915, ss2998794518, ss3022599219, ss3629502927, ss3629502928, ss3632348180, ss3633415185, ss3634137659, ss3635056761, ss3635056762, ss3635818684, ss3636777926, ss3637571467, ss3638619626, ss3640764060, ss3640764061, ss3641193350, ss3641490481, ss3644906335, ss3653111739, ss3653111740, ss3654128003, ss3666709651, ss3733360790, ss3744549796, ss3745356768, ss3745356769, ss3764821549, ss3772850471, ss3772850472, ss3785425237, ss3790784680, ss3795662195, ss3829832195, ss3838394250, ss3864253477, ss3911028195, ss3984565619, ss3985212997, ss4017266187, ss5176834249, ss5315142025, ss5364719754, ss5508427725, ss5624623631, ss5640088179, ss5799683562, ss5842025766, ss5847290840, ss5848089533, ss5968590166, ss5979779981, ss5980356445 NC_000006.11:31445215:G:A NC_000006.12:31477438:G:A (self)
41116238, 221202996, 3099827, 48525451, 535751851, 15860280454, ss2282942443, ss3025607868, ss3716907211, ss3807976929, ss3843836416, ss4698374293, ss5267934701, ss5465669223, ss5553590303, ss5714688347, ss5807306534, ss5855283441, ss5883242062 NC_000006.12:31477438:G:A NC_000006.12:31477438:G:A (self)
ss14795081, ss22424589 NT_007592.13:22299850:A:A NC_000006.12:31477438:G:A (self)
ss4027273, ss12690924, ss23137762, ss23321749, ss44681367, ss68971591, ss75233739, ss105990967, ss119447900, ss160588267, ss173497753, ss410926520 NT_007592.15:31385215:G:A NC_000006.12:31477438:G:A (self)
ss4025188334 NT_113891.3:2954763:A:A NC_000006.12:31477438:G:A (self)
ss4025208984 NT_167245.2:2724964:G:A NC_000006.12:31477438:G:A (self)
ss4025247766 NT_167247.2:2819410:A:A NC_000006.12:31477438:G:A (self)
ss4025266362 NT_167248.2:2733325:G:A NC_000006.12:31477438:G:A (self)
ss4025287283 NT_167249.2:2776689:G:A NC_000006.12:31477438:G:A (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 rs2844502
PMID Title Author Year Journal
30315195 Discovering Genetic Factors for psoriasis through exhaustively searching for significant second order SNP-SNP interactions. Lee KY et al. 2018 Scientific reports
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