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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.

rs1567897

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:81729288 (GRCh38.p14) Help

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

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.293929 (77800/264690, TOPMED)
C=0.309439 (43353/140102, GnomAD)
C=0.21095 (5961/28258, 14KJPN) (+ 17 more)
C=0.34727 (6560/18890, ALFA)
C=0.20728 (3474/16760, 8.3KJPN)
C=0.2630 (1684/6404, 1000G_30x)
C=0.2666 (1335/5008, 1000G)
C=0.3795 (1700/4480, Estonian)
C=0.3972 (1531/3854, ALSPAC)
C=0.3921 (1454/3708, TWINSUK)
C=0.1509 (441/2922, KOREAN)
C=0.1490 (273/1832, Korea1K)
C=0.399 (398/998, GoNL)
C=0.392 (235/600, NorthernSweden)
C=0.232 (76/328, HapMap)
T=0.375 (90/240, SGDP_PRJ)
C=0.468 (101/216, Qatari)
C=0.160 (34/212, Vietnamese)
C=0.38 (15/40, GENOME_DK)
T=0.38 (10/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 18890 T=0.65273 C=0.34727
European Sub 14286 T=0.61340 C=0.38660
African Sub 2946 T=0.8092 C=0.1908
African Others Sub 114 T=0.904 C=0.096
African American Sub 2832 T=0.8054 C=0.1946
Asian Sub 112 T=0.821 C=0.179
East Asian Sub 86 T=0.86 C=0.14
Other Asian Sub 26 T=0.69 C=0.31
Latin American 1 Sub 146 T=0.616 C=0.384
Latin American 2 Sub 610 T=0.818 C=0.182
South Asian Sub 98 T=0.58 C=0.42
Other Sub 692 T=0.643 C=0.357


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=0.706071 C=0.293929
gnomAD - Genomes Global Study-wide 140102 T=0.690561 C=0.309439
gnomAD - Genomes European Sub 75872 T=0.61218 C=0.38782
gnomAD - Genomes African Sub 41976 T=0.80687 C=0.19313
gnomAD - Genomes American Sub 13648 T=0.75330 C=0.24670
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.6026 C=0.3974
gnomAD - Genomes East Asian Sub 3132 T=0.8477 C=0.1523
gnomAD - Genomes Other Sub 2150 T=0.6949 C=0.3051
14KJPN JAPANESE Study-wide 28258 T=0.78905 C=0.21095
Allele Frequency Aggregator Total Global 18890 T=0.65273 C=0.34727
Allele Frequency Aggregator European Sub 14286 T=0.61340 C=0.38660
Allele Frequency Aggregator African Sub 2946 T=0.8092 C=0.1908
Allele Frequency Aggregator Other Sub 692 T=0.643 C=0.357
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.818 C=0.182
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.616 C=0.384
Allele Frequency Aggregator Asian Sub 112 T=0.821 C=0.179
Allele Frequency Aggregator South Asian Sub 98 T=0.58 C=0.42
8.3KJPN JAPANESE Study-wide 16760 T=0.79272 C=0.20728
1000Genomes_30x Global Study-wide 6404 T=0.7370 C=0.2630
1000Genomes_30x African Sub 1786 T=0.8348 C=0.1652
1000Genomes_30x Europe Sub 1266 T=0.6185 C=0.3815
1000Genomes_30x South Asian Sub 1202 T=0.5732 C=0.4268
1000Genomes_30x East Asian Sub 1170 T=0.8479 C=0.1521
1000Genomes_30x American Sub 980 T=0.781 C=0.219
1000Genomes Global Study-wide 5008 T=0.7334 C=0.2666
1000Genomes African Sub 1322 T=0.8222 C=0.1778
1000Genomes East Asian Sub 1008 T=0.8492 C=0.1508
1000Genomes Europe Sub 1006 T=0.6282 C=0.3718
1000Genomes South Asian Sub 978 T=0.575 C=0.425
1000Genomes American Sub 694 T=0.772 C=0.228
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6205 C=0.3795
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6028 C=0.3972
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6079 C=0.3921
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.8491 C=0.1509
Korean Genome Project KOREAN Study-wide 1832 T=0.8510 C=0.1490
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.601 C=0.399
Northern Sweden ACPOP Study-wide 600 T=0.608 C=0.392
HapMap Global Study-wide 328 T=0.768 C=0.232
HapMap African Sub 120 T=0.875 C=0.125
HapMap American Sub 120 T=0.608 C=0.392
HapMap Asian Sub 88 T=0.84 C=0.16
SGDP_PRJ Global Study-wide 240 T=0.375 C=0.625
Qatari Global Study-wide 216 T=0.532 C=0.468
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.840 C=0.160
The Danish reference pan genome Danish Study-wide 40 T=0.62 C=0.38
Siberian Global Study-wide 26 T=0.38 C=0.62
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 15 NC_000015.10:g.81729288T>C
GRCh37.p13 chr 15 NC_000015.9:g.82021629T>C
Help

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

Not Reported in ClinVar
Help

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

Placement T= C
GRCh38.p14 chr 15 NC_000015.10:g.81729288= NC_000015.10:g.81729288T>C
GRCh37.p13 chr 15 NC_000015.9:g.82021629= NC_000015.9:g.82021629T>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#.

73 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2412123 Oct 23, 2000 (88)
2 SC_JCM ss6195687 Feb 20, 2003 (111)
3 SSAHASNP ss21297388 Apr 05, 2004 (121)
4 PERLEGEN ss24679104 Sep 20, 2004 (123)
5 ABI ss43756750 Mar 15, 2006 (126)
6 HUMANGENOME_JCVI ss96828154 Feb 04, 2009 (130)
7 BGI ss103256238 Dec 01, 2009 (131)
8 1000GENOMES ss108984540 Jan 23, 2009 (130)
9 1000GENOMES ss114455907 Jan 25, 2009 (130)
10 ILLUMINA ss120241575 Dec 01, 2009 (131)
11 ENSEMBL ss132427369 Dec 01, 2009 (131)
12 GMI ss156791215 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss168394936 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss170033593 Jul 04, 2010 (132)
15 BUSHMAN ss201096325 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss207202917 Jul 04, 2010 (132)
17 1000GENOMES ss227001222 Jul 14, 2010 (132)
18 1000GENOMES ss236854686 Jul 15, 2010 (132)
19 1000GENOMES ss243228401 Jul 15, 2010 (132)
20 ILLUMINA ss244259761 Jul 04, 2010 (132)
21 BL ss255149847 May 09, 2011 (134)
22 GMI ss282337406 May 04, 2012 (137)
23 GMI ss286990073 Apr 25, 2013 (138)
24 PJP ss291762102 May 09, 2011 (134)
25 TISHKOFF ss564608514 Apr 25, 2013 (138)
26 SSMP ss660347026 Apr 25, 2013 (138)
27 EVA-GONL ss992006937 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1080285915 Aug 21, 2014 (142)
29 1000GENOMES ss1354324063 Aug 21, 2014 (142)
30 DDI ss1427693487 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1577722664 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1633459754 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1676453787 Apr 01, 2015 (144)
34 EVA_DECODE ss1696033353 Apr 01, 2015 (144)
35 WEILL_CORNELL_DGM ss1935409944 Feb 12, 2016 (147)
36 JJLAB ss2028487221 Sep 14, 2016 (149)
37 USC_VALOUEV ss2156896433 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2208541023 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2628739530 Nov 08, 2017 (151)
40 GRF ss2701378447 Nov 08, 2017 (151)
41 GNOMAD ss2937365653 Nov 08, 2017 (151)
42 SWEGEN ss3013632227 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3028068198 Nov 08, 2017 (151)
44 CSHL ss3351210257 Nov 08, 2017 (151)
45 ILLUMINA ss3641063734 Oct 12, 2018 (152)
46 ILLUMINA ss3641359147 Oct 12, 2018 (152)
47 URBANLAB ss3650402882 Oct 12, 2018 (152)
48 EGCUT_WGS ss3680771024 Jul 13, 2019 (153)
49 EVA_DECODE ss3698315745 Jul 13, 2019 (153)
50 ACPOP ss3741107978 Jul 13, 2019 (153)
51 EVA ss3753355513 Jul 13, 2019 (153)
52 PACBIO ss3787908187 Jul 13, 2019 (153)
53 PACBIO ss3792910231 Jul 13, 2019 (153)
54 PACBIO ss3797794831 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3818659067 Jul 13, 2019 (153)
56 EVA ss3834341531 Apr 27, 2020 (154)
57 SGDP_PRJ ss3883363939 Apr 27, 2020 (154)
58 KRGDB ss3932597830 Apr 27, 2020 (154)
59 KOGIC ss3976590498 Apr 27, 2020 (154)
60 TOPMED ss4998932110 Apr 27, 2021 (155)
61 TOMMO_GENOMICS ss5217200200 Apr 27, 2021 (155)
62 1000G_HIGH_COVERAGE ss5299195620 Oct 16, 2022 (156)
63 EVA ss5420618064 Oct 16, 2022 (156)
64 HUGCELL_USP ss5492843820 Oct 16, 2022 (156)
65 EVA ss5511498575 Oct 16, 2022 (156)
66 1000G_HIGH_COVERAGE ss5600973562 Oct 16, 2022 (156)
67 SANFORD_IMAGENETICS ss5657935343 Oct 16, 2022 (156)
68 TOMMO_GENOMICS ss5771307091 Oct 16, 2022 (156)
69 YY_MCH ss5815523597 Oct 16, 2022 (156)
70 EVA ss5828493664 Oct 16, 2022 (156)
71 EVA ss5851381351 Oct 16, 2022 (156)
72 EVA ss5876745704 Oct 16, 2022 (156)
73 EVA ss5949355284 Oct 16, 2022 (156)
74 1000Genomes NC_000015.9 - 82021629 Oct 12, 2018 (152)
75 1000Genomes_30x NC_000015.10 - 81729288 Oct 16, 2022 (156)
76 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 82021629 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000015.9 - 82021629 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000015.9 - 82021629 Apr 27, 2020 (154)
79 gnomAD - Genomes NC_000015.10 - 81729288 Apr 27, 2021 (155)
80 Genome of the Netherlands Release 5 NC_000015.9 - 82021629 Apr 27, 2020 (154)
81 HapMap NC_000015.10 - 81729288 Apr 27, 2020 (154)
82 KOREAN population from KRGDB NC_000015.9 - 82021629 Apr 27, 2020 (154)
83 Korean Genome Project NC_000015.10 - 81729288 Apr 27, 2020 (154)
84 Northern Sweden NC_000015.9 - 82021629 Jul 13, 2019 (153)
85 Qatari NC_000015.9 - 82021629 Apr 27, 2020 (154)
86 SGDP_PRJ NC_000015.9 - 82021629 Apr 27, 2020 (154)
87 Siberian NC_000015.9 - 82021629 Apr 27, 2020 (154)
88 8.3KJPN NC_000015.9 - 82021629 Apr 27, 2021 (155)
89 14KJPN NC_000015.10 - 81729288 Oct 16, 2022 (156)
90 TopMed NC_000015.10 - 81729288 Apr 27, 2021 (155)
91 UK 10K study - Twins NC_000015.9 - 82021629 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000015.9 - 82021629 Jul 13, 2019 (153)
93 ALFA NC_000015.10 - 81729288 Apr 27, 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)
rs17678533 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108984540, ss114455907, ss168394936, ss170033593, ss201096325, ss207202917, ss255149847, ss282337406, ss286990073, ss291762102, ss1696033353 NC_000015.8:79808683:T:C NC_000015.10:81729287:T:C (self)
67426841, 37445003, 26509272, 3942848, 16708554, 39775224, 14392843, 17451874, 35380919, 9412787, 75169507, 37445003, 8324604, ss227001222, ss236854686, ss243228401, ss564608514, ss660347026, ss992006937, ss1080285915, ss1354324063, ss1427693487, ss1577722664, ss1633459754, ss1676453787, ss1935409944, ss2028487221, ss2156896433, ss2628739530, ss2701378447, ss2937365653, ss3013632227, ss3351210257, ss3641063734, ss3641359147, ss3680771024, ss3741107978, ss3753355513, ss3787908187, ss3792910231, ss3797794831, ss3834341531, ss3883363939, ss3932597830, ss5217200200, ss5420618064, ss5511498575, ss5657935343, ss5828493664, ss5949355284 NC_000015.9:82021628:T:C NC_000015.10:81729287:T:C (self)
88499497, 475351912, 1303611, 32968499, 105144195, 214477770, 11396628486, ss2208541023, ss3028068198, ss3650402882, ss3698315745, ss3818659067, ss3976590498, ss4998932110, ss5299195620, ss5492843820, ss5600973562, ss5771307091, ss5815523597, ss5851381351, ss5876745704 NC_000015.10:81729287:T:C NC_000015.10:81729287:T:C (self)
ss21297388 NT_010194.16:52811948:T:C NC_000015.10:81729287:T:C (self)
ss2412123, ss6195687, ss24679104, ss43756750, ss96828154, ss103256238, ss120241575, ss132427369, ss156791215, ss244259761 NT_010194.17:52812185:T:C NC_000015.10:81729287:T:C (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 rs1567897

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