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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.

rs17192512

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31298137 (GRCh38.p14) Help

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

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.054581 (14447/264690, TOPMED)
G=0.048661 (6823/140216, GnomAD)
G=0.13911 (3931/28258, 14KJPN) (+ 15 more)
G=0.04636 (1019/21982, ALFA)
G=0.13729 (2301/16760, 8.3KJPN)
G=0.0748 (479/6404, 1000G_30x)
G=0.0767 (384/5008, 1000G)
G=0.0647 (290/4480, Estonian)
G=0.0283 (109/3854, ALSPAC)
G=0.0364 (135/3708, TWINSUK)
G=0.1006 (294/2922, KOREAN)
G=0.1030 (117/1136, Daghestan)
G=0.043 (43/998, GoNL)
G=0.045 (27/600, NorthernSweden)
G=0.176 (38/216, Qatari)
A=0.403 (54/134, SGDP_PRJ)
G=0.07 (3/40, GENOME_DK)
A=0.42 (5/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC02571 : Intron Variant
LOC112267902 : Non Coding Transcript Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 21982 A=0.95364 G=0.04636
European Sub 14370 A=0.95261 G=0.04739
African Sub 5608 A=0.9692 G=0.0308
African Others Sub 198 A=0.990 G=0.010
African American Sub 5410 A=0.9684 G=0.0316
Asian Sub 118 A=0.941 G=0.059
East Asian Sub 90 A=0.93 G=0.07
Other Asian Sub 28 A=0.96 G=0.04
Latin American 1 Sub 154 A=0.922 G=0.078
Latin American 2 Sub 616 A=0.859 G=0.141
South Asian Sub 100 A=0.89 G=0.11
Other Sub 1016 A=0.9528 G=0.0472


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 A=0.945419 G=0.054581
gnomAD - Genomes Global Study-wide 140216 A=0.951339 G=0.048661
gnomAD - Genomes European Sub 75922 A=0.95356 G=0.04644
gnomAD - Genomes African Sub 42040 A=0.97093 G=0.02907
gnomAD - Genomes American Sub 13652 A=0.87972 G=0.12028
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9681 G=0.0319
gnomAD - Genomes East Asian Sub 3132 A=0.9307 G=0.0693
gnomAD - Genomes Other Sub 2146 A=0.9487 G=0.0513
14KJPN JAPANESE Study-wide 28258 A=0.86089 G=0.13911
Allele Frequency Aggregator Total Global 21982 A=0.95364 G=0.04636
Allele Frequency Aggregator European Sub 14370 A=0.95261 G=0.04739
Allele Frequency Aggregator African Sub 5608 A=0.9692 G=0.0308
Allele Frequency Aggregator Other Sub 1016 A=0.9528 G=0.0472
Allele Frequency Aggregator Latin American 2 Sub 616 A=0.859 G=0.141
Allele Frequency Aggregator Latin American 1 Sub 154 A=0.922 G=0.078
Allele Frequency Aggregator Asian Sub 118 A=0.941 G=0.059
Allele Frequency Aggregator South Asian Sub 100 A=0.89 G=0.11
8.3KJPN JAPANESE Study-wide 16760 A=0.86271 G=0.13729
1000Genomes_30x Global Study-wide 6404 A=0.9252 G=0.0748
1000Genomes_30x African Sub 1786 A=0.9686 G=0.0314
1000Genomes_30x Europe Sub 1266 A=0.9534 G=0.0466
1000Genomes_30x South Asian Sub 1202 A=0.8744 G=0.1256
1000Genomes_30x East Asian Sub 1170 A=0.9299 G=0.0701
1000Genomes_30x American Sub 980 A=0.866 G=0.134
1000Genomes Global Study-wide 5008 A=0.9233 G=0.0767
1000Genomes African Sub 1322 A=0.9667 G=0.0333
1000Genomes East Asian Sub 1008 A=0.9276 G=0.0724
1000Genomes Europe Sub 1006 A=0.9503 G=0.0497
1000Genomes South Asian Sub 978 A=0.872 G=0.128
1000Genomes American Sub 694 A=0.867 G=0.133
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9353 G=0.0647
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9717 G=0.0283
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9636 G=0.0364
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.8994 G=0.1006
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.8970 G=0.1030
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.896 G=0.104
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.889 G=0.111
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.869 G=0.131
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.963 G=0.037
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.85 G=0.15
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.97 G=0.03
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.957 G=0.043
Northern Sweden ACPOP Study-wide 600 A=0.955 G=0.045
Qatari Global Study-wide 216 A=0.824 G=0.176
SGDP_PRJ Global Study-wide 134 A=0.403 G=0.597
The Danish reference pan genome Danish Study-wide 40 A=0.93 G=0.07
Siberian Global Study-wide 12 A=0.42 G=0.58
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.31298137A>G
GRCh37.p13 chr 6 NC_000006.11:g.31265914A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2779044A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2779150A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2553784A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2559380A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2555879A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2561464A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2600310A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2599608A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2607125A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2612745A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2640834A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2646419A>G
Gene: LINC02571, long intergenic non-protein coding RNA 2571 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC02571 transcript NR_149115.1:n. N/A Intron Variant
Gene: LOC112267902, uncharacterized LOC112267902 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC112267902 transcript variant X1 XR_926691.3:n.1500T>C 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

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

Placement A= G
GRCh38.p14 chr 6 NC_000006.12:g.31298137= NC_000006.12:g.31298137A>G
GRCh37.p13 chr 6 NC_000006.11:g.31265914= NC_000006.11:g.31265914A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2779044= NT_113891.3:g.2779044A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2779150= NT_113891.2:g.2779150A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2553784= NT_167248.2:g.2553784A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2559380= NT_167248.1:g.2559380A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2555879= NT_167245.2:g.2555879A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2561464= NT_167245.1:g.2561464A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2600310= NT_167249.2:g.2600310A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2599608= NT_167249.1:g.2599608A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2607125= NT_167246.2:g.2607125A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2612745= NT_167246.1:g.2612745A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2640834= NT_167247.2:g.2640834A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2646419= NT_167247.1:g.2646419A>G
LOC112267902 transcript variant X1 XR_926691.3:n.1500= XR_926691.3:n.1500T>C
LOC112267902 transcript variant X1 XR_926691.2:n.1501= XR_926691.2:n.1501T>C
LOC105375015 transcript variant X2 XR_926691.1:n.1485= XR_926691.1:n.1485T>C
LOC112267902 transcript variant X4 XR_007068751.1:n.2071= XR_007068751.1:n.2071T>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#.

47 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 FHCRC ss23137272 Sep 20, 2004 (123)
2 1000GENOMES ss222299313 Jul 14, 2010 (137)
3 1000GENOMES ss233394016 Jul 14, 2010 (137)
4 1000GENOMES ss240465444 Jul 15, 2010 (137)
5 GMI ss278722314 May 04, 2012 (137)
6 ILLUMINA ss533114858 Sep 08, 2015 (146)
7 TISHKOFF ss559110778 Apr 25, 2013 (138)
8 SSMP ss653029861 Apr 25, 2013 (138)
9 EVA-GONL ss982759518 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1073502358 Aug 21, 2014 (142)
11 1000GENOMES ss1319547003 Aug 21, 2014 (142)
12 HAMMER_LAB ss1397449192 Sep 08, 2015 (146)
13 EVA_GENOME_DK ss1581603155 Apr 01, 2015 (144)
14 EVA_DECODE ss1592305725 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1615272180 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1658266213 Apr 01, 2015 (144)
17 WEILL_CORNELL_DGM ss1926010986 Feb 12, 2016 (147)
18 GENOMED ss1970354634 Jul 19, 2016 (147)
19 JJLAB ss2023636786 Sep 14, 2016 (149)
20 USC_VALOUEV ss2151802482 Nov 08, 2017 (151)
21 HUMAN_LONGEVITY ss2282933870 Dec 20, 2016 (150)
22 GRF ss2707395544 Nov 08, 2017 (151)
23 GNOMAD ss2837402785 Nov 08, 2017 (151)
24 SWEGEN ss2998786812 Nov 08, 2017 (151)
25 ILLUMINA ss3629500723 Oct 12, 2018 (152)
26 EGCUT_WGS ss3666706540 Jul 13, 2019 (153)
27 EVA_DECODE ss3716899465 Jul 13, 2019 (153)
28 ACPOP ss3733354642 Jul 13, 2019 (153)
29 EVA ss3764815595 Jul 13, 2019 (153)
30 KHV_HUMAN_GENOMES ss3807970161 Jul 13, 2019 (153)
31 EVA ss3829827240 Apr 26, 2020 (154)
32 SGDP_PRJ ss3864243621 Apr 26, 2020 (154)
33 KRGDB ss3911019078 Apr 26, 2020 (154)
34 TOPMED ss4698342196 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5176822556 Apr 26, 2021 (155)
36 1000G_HIGH_COVERAGE ss5267926156 Oct 13, 2022 (156)
37 EVA ss5364710262 Oct 13, 2022 (156)
38 HUGCELL_USP ss5465662765 Oct 13, 2022 (156)
39 EVA ss5508423913 Oct 13, 2022 (156)
40 1000G_HIGH_COVERAGE ss5553579800 Oct 13, 2022 (156)
41 SANFORD_IMAGENETICS ss5640080185 Oct 13, 2022 (156)
42 TOMMO_GENOMICS ss5714674208 Oct 13, 2022 (156)
43 YY_MCH ss5807299787 Oct 13, 2022 (156)
44 EVA ss5842018997 Oct 13, 2022 (156)
45 EVA ss5855279582 Oct 13, 2022 (156)
46 EVA ss5883234051 Oct 13, 2022 (156)
47 EVA ss5968583243 Oct 13, 2022 (156)
48 1000Genomes NC_000006.11 - 31265914 Oct 12, 2018 (152)
49 1000Genomes_30x NC_000006.12 - 31298137 Oct 13, 2022 (156)
50 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31265914 Oct 12, 2018 (152)
51 Genome-wide autozygosity in Daghestan NC_000006.10 - 31373893 Apr 26, 2020 (154)
52 Genetic variation in the Estonian population NC_000006.11 - 31265914 Oct 12, 2018 (152)
53 The Danish reference pan genome NC_000006.11 - 31265914 Apr 26, 2020 (154)
54 gnomAD - Genomes NC_000006.12 - 31298137 Apr 26, 2021 (155)
55 Genome of the Netherlands Release 5 NC_000006.11 - 31265914 Apr 26, 2020 (154)
56 KOREAN population from KRGDB NC_000006.11 - 31265914 Apr 26, 2020 (154)
57 Northern Sweden NC_000006.11 - 31265914 Jul 13, 2019 (153)
58 Qatari NC_000006.11 - 31265914 Apr 26, 2020 (154)
59 SGDP_PRJ NC_000006.11 - 31265914 Apr 26, 2020 (154)
60 Siberian NC_000006.11 - 31265914 Apr 26, 2020 (154)
61 8.3KJPN NC_000006.11 - 31265914 Apr 26, 2021 (155)
62 14KJPN NC_000006.12 - 31298137 Oct 13, 2022 (156)
63 TopMed NC_000006.12 - 31298137 Apr 26, 2021 (155)
64 UK 10K study - Twins NC_000006.11 - 31265914 Oct 12, 2018 (152)
65 ALFA NC_000006.12 - 31298137 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)
rs114448609 May 04, 2012 (137)
rs118121146 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
423844, ss278722314, ss1397449192, ss1592305725 NC_000006.10:31373892:A:G NC_000006.12:31298136:A:G (self)
31313953, 17461048, 12444788, 7768094, 7758807, 18196472, 6639507, 8052916, 16260601, 4318836, 34791863, 17461048, ss222299313, ss233394016, ss240465444, ss533114858, ss559110778, ss653029861, ss982759518, ss1073502358, ss1319547003, ss1581603155, ss1615272180, ss1658266213, ss1926010986, ss1970354634, ss2023636786, ss2151802482, ss2707395544, ss2837402785, ss2998786812, ss3629500723, ss3666706540, ss3733354642, ss3764815595, ss3829827240, ss3864243621, ss3911019078, ss5176822556, ss5364710262, ss5508423913, ss5640080185, ss5842018997, ss5968583243 NC_000006.11:31265913:A:G NC_000006.12:31298136:A:G (self)
41105735, 221166471, 48511312, 535719754, 9824652041, ss2282933870, ss3716899465, ss3807970161, ss4698342196, ss5267926156, ss5465662765, ss5553579800, ss5714674208, ss5807299787, ss5855279582, ss5883234051 NC_000006.12:31298136:A:G NC_000006.12:31298136:A:G (self)
ss23137272 NT_007592.15:31205913:A:G NC_000006.12:31298136:A:G (self)
Help

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

No publications for rs17192512

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