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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.

rs17188113

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:30163346 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.120001 (31763/264690, TOPMED)
G=0.131237 (18391/140136, GnomAD)
G=0.12076 (9502/78682, PAGE_STUDY) (+ 19 more)
G=0.13585 (4622/34022, ALFA)
G=0.35841 (10128/28258, 14KJPN)
G=0.35984 (6031/16760, 8.3KJPN)
G=0.1671 (1070/6404, 1000G_30x)
G=0.1727 (865/5008, 1000G)
G=0.1705 (764/4480, Estonian)
G=0.1562 (602/3854, ALSPAC)
G=0.1588 (589/3708, TWINSUK)
G=0.2719 (796/2928, KOREAN)
G=0.2111 (239/1132, Daghestan)
G=0.166 (166/998, GoNL)
G=0.205 (123/600, NorthernSweden)
G=0.116 (25/216, Qatari)
T=0.400 (84/210, SGDP_PRJ)
G=0.399 (83/208, Vietnamese)
G=0.21 (16/78, Ancient Sardinia)
G=0.12 (5/40, GENOME_DK)
T=0.50 (12/24, Siberian)
G=0.50 (12/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TRIM10 : Intron Variant
TRIM15 : 2KB Upstream 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 34022 T=0.86415 G=0.13585
European Sub 24738 T=0.83855 G=0.16145
African Sub 6218 T=0.9617 G=0.0383
African Others Sub 208 T=0.995 G=0.005
African American Sub 6010 T=0.9606 G=0.0394
Asian Sub 128 T=0.711 G=0.289
East Asian Sub 100 T=0.72 G=0.28
Other Asian Sub 28 T=0.68 G=0.32
Latin American 1 Sub 168 T=0.911 G=0.089
Latin American 2 Sub 700 T=0.890 G=0.110
South Asian Sub 114 T=0.807 G=0.193
Other Sub 1956 T=0.8778 G=0.1222


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 T=0.879999 G=0.120001
gnomAD - Genomes Global Study-wide 140136 T=0.868763 G=0.131237
gnomAD - Genomes European Sub 75874 T=0.82111 G=0.17889
gnomAD - Genomes African Sub 42010 T=0.96277 G=0.03723
gnomAD - Genomes American Sub 13656 T=0.88474 G=0.11526
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.8660 G=0.1340
gnomAD - Genomes East Asian Sub 3124 T=0.6997 G=0.3003
gnomAD - Genomes Other Sub 2150 T=0.8619 G=0.1381
The PAGE Study Global Study-wide 78682 T=0.87924 G=0.12076
The PAGE Study AfricanAmerican Sub 32512 T=0.95814 G=0.04186
The PAGE Study Mexican Sub 10810 T=0.89269 G=0.10731
The PAGE Study Asian Sub 8314 T=0.6469 G=0.3531
The PAGE Study PuertoRican Sub 7916 T=0.9049 G=0.0951
The PAGE Study NativeHawaiian Sub 4534 T=0.6581 G=0.3419
The PAGE Study Cuban Sub 4228 T=0.8635 G=0.1365
The PAGE Study Dominican Sub 3826 T=0.9117 G=0.0883
The PAGE Study CentralAmerican Sub 2450 T=0.9041 G=0.0959
The PAGE Study SouthAmerican Sub 1982 T=0.8890 G=0.1110
The PAGE Study NativeAmerican Sub 1260 T=0.8571 G=0.1429
The PAGE Study SouthAsian Sub 850 T=0.774 G=0.226
Allele Frequency Aggregator Total Global 34022 T=0.86415 G=0.13585
Allele Frequency Aggregator European Sub 24738 T=0.83855 G=0.16145
Allele Frequency Aggregator African Sub 6218 T=0.9617 G=0.0383
Allele Frequency Aggregator Other Sub 1956 T=0.8778 G=0.1222
Allele Frequency Aggregator Latin American 2 Sub 700 T=0.890 G=0.110
Allele Frequency Aggregator Latin American 1 Sub 168 T=0.911 G=0.089
Allele Frequency Aggregator Asian Sub 128 T=0.711 G=0.289
Allele Frequency Aggregator South Asian Sub 114 T=0.807 G=0.193
14KJPN JAPANESE Study-wide 28258 T=0.64159 G=0.35841
8.3KJPN JAPANESE Study-wide 16760 T=0.64016 G=0.35984
1000Genomes_30x Global Study-wide 6404 T=0.8329 G=0.1671
1000Genomes_30x African Sub 1786 T=0.9910 G=0.0090
1000Genomes_30x Europe Sub 1266 T=0.8191 G=0.1809
1000Genomes_30x South Asian Sub 1202 T=0.7504 G=0.2496
1000Genomes_30x East Asian Sub 1170 T=0.6410 G=0.3590
1000Genomes_30x American Sub 980 T=0.893 G=0.107
1000Genomes Global Study-wide 5008 T=0.8273 G=0.1727
1000Genomes African Sub 1322 T=0.9887 G=0.0113
1000Genomes East Asian Sub 1008 T=0.6438 G=0.3562
1000Genomes Europe Sub 1006 T=0.8191 G=0.1809
1000Genomes South Asian Sub 978 T=0.755 G=0.245
1000Genomes American Sub 694 T=0.901 G=0.099
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8295 G=0.1705
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8438 G=0.1562
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8412 G=0.1588
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.7281 G=0.2719
Genome-wide autozygosity in Daghestan Global Study-wide 1132 T=0.7889 G=0.2111
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.785 G=0.215
Genome-wide autozygosity in Daghestan Near_East Sub 142 T=0.789 G=0.211
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.861 G=0.139
Genome-wide autozygosity in Daghestan Europe Sub 106 T=0.736 G=0.264
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.79 G=0.21
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.78 G=0.22
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.834 G=0.166
Northern Sweden ACPOP Study-wide 600 T=0.795 G=0.205
Qatari Global Study-wide 216 T=0.884 G=0.116
SGDP_PRJ Global Study-wide 210 T=0.400 G=0.600
A Vietnamese Genetic Variation Database Global Study-wide 208 T=0.601 G=0.399
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 T=0.79 G=0.21
The Danish reference pan genome Danish Study-wide 40 T=0.88 G=0.12
Siberian Global Study-wide 24 T=0.50 G=0.50
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.30163346T>G
GRCh37.p13 chr 6 NC_000006.11:g.30131123T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1643144T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1643250T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1418474T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1424070T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1419247T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1424832T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1462277T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1461575T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1474048T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1479668T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1507419T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1513004T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1421426T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1371342T>G
Gene: TRIM10, tripartite motif containing 10 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRIM10 transcript variant 1 NM_006778.4:c. N/A Genic Upstream Transcript Variant
TRIM10 transcript variant 2 NM_052828.3:c. N/A Genic Upstream Transcript Variant
TRIM10 transcript variant X6 XM_047418052.1:c.-1945-12…

XM_047418052.1:c.-1945-120A>C

N/A Intron Variant
TRIM10 transcript variant X4 XM_011514221.2:c.-400= N/A 5 Prime UTR Variant
TRIM10 transcript variant X1 XM_011514222.3:c.-641= N/A 5 Prime UTR Variant
TRIM10 transcript variant X5 XM_047418051.1:c.-2065= N/A 5 Prime UTR Variant
TRIM10 transcript variant X2 XM_011514223.3:c.-522= N/A 5 Prime UTR Variant
TRIM10 transcript variant X3 XM_047418053.1:c.-2065= N/A 5 Prime UTR Variant
Gene: TRIM15, tripartite motif containing 15 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TRIM15 transcript NM_033229.3:c. N/A Upstream Transcript Variant
TRIM15 transcript variant X1 XM_011514987.2:c. N/A Upstream Transcript Variant
TRIM15 transcript variant X3 XM_047419503.1:c. N/A Upstream Transcript Variant
TRIM15 transcript variant X2 XM_011514988.3:c. N/A N/A
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= G
GRCh38.p14 chr 6 NC_000006.12:g.30163346= NC_000006.12:g.30163346T>G
GRCh37.p13 chr 6 NC_000006.11:g.30131123= NC_000006.11:g.30131123T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1643144= NT_113891.3:g.1643144T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1643250= NT_113891.2:g.1643250T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1418474= NT_167248.2:g.1418474T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1424070= NT_167248.1:g.1424070T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1419247= NT_167245.2:g.1419247T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1424832= NT_167245.1:g.1424832T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1462277= NT_167249.2:g.1462277T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1461575= NT_167249.1:g.1461575T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1474048= NT_167246.2:g.1474048T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1479668= NT_167246.1:g.1479668T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1507419= NT_167247.2:g.1507419T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1513004= NT_167247.1:g.1513004T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1421426= NT_167244.2:g.1421426T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1371342= NT_167244.1:g.1371342T>G
TRIM10 transcript variant X1 XM_011514222.3:c.-641= XM_011514222.3:c.-641A>C
TRIM10 transcript variant X2 XM_011514223.3:c.-522= XM_011514223.3:c.-522A>C
TRIM10 transcript variant X4 XM_011514221.2:c.-400= XM_011514221.2:c.-400A>C
TRIM15 transcript NM_033229.2:c.-339= NM_033229.2:c.-339T>G
TRIM10 transcript variant X3 XM_047418053.1:c.-2065= XM_047418053.1:c.-2065A>C
TRIM10 transcript variant X5 XM_047418051.1:c.-2065= XM_047418051.1:c.-2065A>C
TRIM10 transcript variant X6 XM_047418052.1:c.-1945-120= XM_047418052.1:c.-1945-120A>C
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#.

90 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 FHCRC ss23136011 Sep 20, 2004 (123)
2 HGSV ss77722626 Dec 07, 2007 (129)
3 HGSV ss83959877 Dec 14, 2007 (130)
4 BCMHGSC_JDW ss93432734 Mar 24, 2008 (129)
5 BGI ss104293559 Dec 01, 2009 (131)
6 1000GENOMES ss109880019 Feb 13, 2009 (137)
7 GMI ss156708130 Dec 01, 2009 (131)
8 1000GENOMES ss233387165 Jul 14, 2010 (137)
9 1000GENOMES ss240458902 Jul 15, 2010 (137)
10 GMI ss278714442 May 04, 2012 (137)
11 GMI ss285368792 Apr 25, 2013 (138)
12 ILLUMINA ss479212926 May 04, 2012 (137)
13 ILLUMINA ss485225764 May 04, 2012 (137)
14 ILLUMINA ss532800419 Sep 08, 2015 (146)
15 TISHKOFF ss559101825 Apr 25, 2013 (138)
16 SSMP ss653018987 Apr 25, 2013 (138)
17 ILLUMINA ss779474328 Sep 08, 2015 (146)
18 ILLUMINA ss780925281 Sep 08, 2015 (146)
19 ILLUMINA ss834944264 Sep 08, 2015 (146)
20 EVA-GONL ss982744482 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1073492748 Aug 21, 2014 (142)
22 1000GENOMES ss1319512445 Aug 21, 2014 (142)
23 HAMMER_LAB ss1397447641 Sep 08, 2015 (146)
24 EVA_GENOME_DK ss1581596311 Apr 01, 2015 (144)
25 EVA_DECODE ss1592291860 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1615251126 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1658245159 Apr 01, 2015 (144)
28 WEILL_CORNELL_DGM ss1925996663 Feb 12, 2016 (147)
29 ILLUMINA ss1958881414 Feb 12, 2016 (147)
30 ILLUMINA ss1958881416 Feb 12, 2016 (147)
31 GENOMED ss1970350420 Jul 19, 2016 (147)
32 JJLAB ss2023626725 Sep 14, 2016 (149)
33 ILLUMINA ss2094952431 Dec 20, 2016 (150)
34 ILLUMINA ss2095174692 Dec 20, 2016 (150)
35 USC_VALOUEV ss2151792011 Nov 08, 2017 (151)
36 HUMAN_LONGEVITY ss2282872889 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2626299427 Nov 08, 2017 (151)
38 ILLUMINA ss2634424443 Nov 08, 2017 (151)
39 GRF ss2707384082 Nov 08, 2017 (151)
40 GNOMAD ss2837313501 Nov 08, 2017 (151)
41 SWEGEN ss2998765649 Nov 08, 2017 (151)
42 ILLUMINA ss3022593121 Nov 08, 2017 (151)
43 ILLUMINA ss3022593122 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3025598511 Nov 08, 2017 (151)
45 ILLUMINA ss3629492512 Oct 12, 2018 (152)
46 ILLUMINA ss3632343639 Oct 12, 2018 (152)
47 OMUKHERJEE_ADBS ss3646333163 Oct 12, 2018 (152)
48 ILLUMINA ss3653104136 Oct 12, 2018 (152)
49 ILLUMINA ss3653104137 Oct 12, 2018 (152)
50 EGCUT_WGS ss3666688106 Jul 13, 2019 (153)
51 EVA_DECODE ss3716876044 Jul 13, 2019 (153)
52 ILLUMINA ss3726325692 Jul 13, 2019 (153)
53 ACPOP ss3733340510 Jul 13, 2019 (153)
54 EVA ss3764799226 Jul 13, 2019 (153)
55 PAGE_CC ss3771275089 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3807954783 Jul 13, 2019 (153)
57 EVA ss3825693103 Apr 26, 2020 (154)
58 EVA ss3829817415 Apr 26, 2020 (154)
59 EVA ss3838385896 Apr 26, 2020 (154)
60 EVA ss3843827219 Apr 26, 2020 (154)
61 SGDP_PRJ ss3864220287 Apr 26, 2020 (154)
62 KRGDB ss3910994959 Apr 26, 2020 (154)
63 EVA ss3985210528 Apr 26, 2021 (155)
64 EVA ss3986034198 Apr 26, 2021 (155)
65 VINODS ss4025169878 Apr 26, 2021 (155)
66 VINODS ss4025180519 Apr 26, 2021 (155)
67 VINODS ss4025203420 Apr 26, 2021 (155)
68 VINODS ss4025222607 Apr 26, 2021 (155)
69 VINODS ss4025242661 Apr 26, 2021 (155)
70 VINODS ss4025259790 Apr 26, 2021 (155)
71 VINODS ss4025281132 Apr 26, 2021 (155)
72 TOPMED ss4698102723 Apr 26, 2021 (155)
73 TOMMO_GENOMICS ss5176781986 Apr 26, 2021 (155)
74 EVA ss5237392651 Apr 26, 2021 (155)
75 1000G_HIGH_COVERAGE ss5267893261 Oct 13, 2022 (156)
76 EVA ss5315138270 Oct 13, 2022 (156)
77 EVA ss5364661014 Oct 13, 2022 (156)
78 HUGCELL_USP ss5465634620 Oct 13, 2022 (156)
79 1000G_HIGH_COVERAGE ss5553537145 Oct 13, 2022 (156)
80 SANFORD_IMAGENETICS ss5624620852 Oct 13, 2022 (156)
81 SANFORD_IMAGENETICS ss5640057958 Oct 13, 2022 (156)
82 TOMMO_GENOMICS ss5714621432 Oct 13, 2022 (156)
83 YY_MCH ss5807285703 Oct 13, 2022 (156)
84 EVA ss5842000554 Oct 13, 2022 (156)
85 EVA ss5847288525 Oct 13, 2022 (156)
86 EVA ss5848087330 Oct 13, 2022 (156)
87 EVA ss5855271265 Oct 13, 2022 (156)
88 EVA ss5883200375 Oct 13, 2022 (156)
89 EVA ss5968561335 Oct 13, 2022 (156)
90 EVA ss5979776933 Oct 13, 2022 (156)
91 1000Genomes NC_000006.11 - 30131123 Oct 12, 2018 (152)
92 1000Genomes_30x NC_000006.12 - 30163346 Oct 13, 2022 (156)
93 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 30131123 Oct 12, 2018 (152)
94 Genome-wide autozygosity in Daghestan NC_000006.10 - 30239102 Apr 26, 2020 (154)
95 Genetic variation in the Estonian population NC_000006.11 - 30131123 Oct 12, 2018 (152)
96 The Danish reference pan genome NC_000006.11 - 30131123 Apr 26, 2020 (154)
97 gnomAD - Genomes NC_000006.12 - 30163346 Apr 26, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000006.11 - 30131123 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000006.11 - 30131123 Apr 26, 2020 (154)
100 Northern Sweden NC_000006.11 - 30131123 Jul 13, 2019 (153)
101 The PAGE Study NC_000006.12 - 30163346 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 30131123 Apr 26, 2021 (155)
103 Qatari NC_000006.11 - 30131123 Apr 26, 2020 (154)
104 SGDP_PRJ NC_000006.11 - 30131123 Apr 26, 2020 (154)
105 Siberian NC_000006.11 - 30131123 Apr 26, 2020 (154)
106 8.3KJPN NC_000006.11 - 30131123 Apr 26, 2021 (155)
107 14KJPN NC_000006.12 - 30163346 Oct 13, 2022 (156)
108 TopMed NC_000006.12 - 30163346 Apr 26, 2021 (155)
109 UK 10K study - Twins NC_000006.11 - 30131123 Oct 12, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000006.11 - 30131123 Jul 13, 2019 (153)
111 ALFA NC_000006.12 - 30163346 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)
rs57024443 May 23, 2008 (130)
rs114447669 May 04, 2012 (137)
rs117154075 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77722626, ss83959877 NC_000006.9:30239101:T:G NC_000006.12:30163345:T:G (self)
422294, ss93432734, ss109880019, ss278714442, ss285368792, ss485225764, ss1397447641, ss1592291860, ss2094952431 NC_000006.10:30239101:T:G NC_000006.12:30163345:T:G (self)
31277863, 17437569, 12426354, 7761250, 7744541, 18172353, 6625375, 436455, 8038593, 16237267, 4308365, 34751293, 17437569, 3863292, ss233387165, ss240458902, ss479212926, ss532800419, ss559101825, ss653018987, ss779474328, ss780925281, ss834944264, ss982744482, ss1073492748, ss1319512445, ss1581596311, ss1615251126, ss1658245159, ss1925996663, ss1958881414, ss1958881416, ss1970350420, ss2023626725, ss2095174692, ss2151792011, ss2626299427, ss2634424443, ss2707384082, ss2837313501, ss2998765649, ss3022593121, ss3022593122, ss3629492512, ss3632343639, ss3646333163, ss3653104136, ss3653104137, ss3666688106, ss3733340510, ss3764799226, ss3825693103, ss3829817415, ss3838385896, ss3864220287, ss3910994959, ss3985210528, ss3986034198, ss5176781986, ss5237392651, ss5315138270, ss5364661014, ss5624620852, ss5640057958, ss5842000554, ss5847288525, ss5848087330, ss5968561335, ss5979776933 NC_000006.11:30131122:T:G NC_000006.12:30163345:T:G (self)
41063080, 220950842, 496558, 48458536, 535480281, 6603743602, ss2282872889, ss3025598511, ss3716876044, ss3726325692, ss3771275089, ss3807954783, ss3843827219, ss4698102723, ss5267893261, ss5465634620, ss5553537145, ss5714621432, ss5807285703, ss5855271265, ss5883200375 NC_000006.12:30163345:T:G NC_000006.12:30163345:T:G (self)
ss23136011, ss104293559, ss156708130 NT_007592.15:30071122:T:G NC_000006.12:30163345:T:G (self)
ss4025180519 NT_113891.3:1643143:T:G NC_000006.12:30163345:T:G (self)
ss4025169878 NT_167244.2:1421425:T:G NC_000006.12:30163345:T:G (self)
ss4025203420 NT_167245.2:1419246:T:G NC_000006.12:30163345:T:G (self)
ss4025222607 NT_167246.2:1474047:T:G NC_000006.12:30163345:T:G (self)
ss4025242661 NT_167247.2:1507418:T:G NC_000006.12:30163345:T:G (self)
ss4025259790 NT_167248.2:1418473:T:G NC_000006.12:30163345:T:G (self)
ss4025281132 NT_167249.2:1462276:T:G NC_000006.12:30163345: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 rs17188113
PMID Title Author Year Journal
29562276 Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis. Venkateswaran S et al. 2018 Inflammatory bowel diseases
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