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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs28495368

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:43603444 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.239563 (63410/264690, TOPMED)
A=0.160976 (39827/247410, GnomAD_exome)
A=0.214973 (30027/139678, GnomAD) (+ 19 more)
A=0.163056 (19672/120646, ExAC)
A=0.11096 (4387/39536, ALFA)
A=0.26240 (7415/28258, 14KJPN)
A=0.26450 (4433/16760, 8.3KJPN)
A=0.18139 (2357/12994, GO-ESP)
A=0.2886 (1848/6404, 1000G_30x)
A=0.2875 (1440/5008, 1000G)
A=0.1025 (395/3854, ALSPAC)
A=0.0949 (352/3708, TWINSUK)
A=0.3352 (982/2930, KOREAN)
A=0.3246 (605/1864, HapMap)
A=0.3466 (635/1832, Korea1K)
A=0.078 (47/600, NorthernSweden)
A=0.011 (6/534, MGP)
A=0.033 (10/302, FINRISK)
G=0.393 (92/234, SGDP_PRJ)
A=0.139 (30/216, Qatari)
A=0.05 (2/40, GENOME_DK)
G=0.4 (4/10, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
STRC : Intron 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 39536 G=0.88904 A=0.11096, C=0.00000
European Sub 31516 G=0.91620 A=0.08380, C=0.00000
African Sub 3216 G=0.6561 A=0.3439, C=0.0000
African Others Sub 90 G=0.46 A=0.54, C=0.00
African American Sub 3126 G=0.6619 A=0.3381, C=0.0000
Asian Sub 132 G=0.848 A=0.152, C=0.000
East Asian Sub 82 G=0.88 A=0.12, C=0.00
Other Asian Sub 50 G=0.80 A=0.20, C=0.00
Latin American 1 Sub 98 G=0.96 A=0.04, C=0.00
Latin American 2 Sub 478 G=0.975 A=0.025, C=0.000
South Asian Sub 84 G=0.93 A=0.07, C=0.00
Other Sub 4012 G=0.8509 A=0.1491, C=0.0000


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=0.760437 A=0.239563
gnomAD - Exomes Global Study-wide 247410 G=0.839024 A=0.160976
gnomAD - Exomes European Sub 131694 G=0.910808 A=0.089192
gnomAD - Exomes Asian Sub 48916 G=0.77768 A=0.22232
gnomAD - Exomes American Sub 34546 G=0.79711 A=0.20289
gnomAD - Exomes African Sub 16092 G=0.53349 A=0.46651
gnomAD - Exomes Ashkenazi Jewish Sub 10066 G=0.81274 A=0.18726
gnomAD - Exomes Other Sub 6096 G=0.8679 A=0.1321
gnomAD - Genomes Global Study-wide 139678 G=0.785027 A=0.214973
gnomAD - Genomes European Sub 75852 G=0.91382 A=0.08618
gnomAD - Genomes African Sub 41640 G=0.54402 A=0.45598
gnomAD - Genomes American Sub 13622 G=0.80950 A=0.19050
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.8189 A=0.1811
gnomAD - Genomes East Asian Sub 3106 G=0.7199 A=0.2801
gnomAD - Genomes Other Sub 2140 G=0.7958 A=0.2042
ExAC Global Study-wide 120646 G=0.836944 A=0.163056
ExAC Europe Sub 72916 G=0.90458 A=0.09542
ExAC Asian Sub 25048 G=0.77823 A=0.22177
ExAC American Sub 11532 G=0.79752 A=0.20248
ExAC African Sub 10248 G=0.54030 A=0.45970
ExAC Other Sub 902 G=0.875 A=0.125
Allele Frequency Aggregator Total Global 39536 G=0.88904 A=0.11096, C=0.00000
Allele Frequency Aggregator European Sub 31516 G=0.91620 A=0.08380, C=0.00000
Allele Frequency Aggregator Other Sub 4012 G=0.8509 A=0.1491, C=0.0000
Allele Frequency Aggregator African Sub 3216 G=0.6561 A=0.3439, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 478 G=0.975 A=0.025, C=0.000
Allele Frequency Aggregator Asian Sub 132 G=0.848 A=0.152, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 98 G=0.96 A=0.04, C=0.00
Allele Frequency Aggregator South Asian Sub 84 G=0.93 A=0.07, C=0.00
14KJPN JAPANESE Study-wide 28258 G=0.73760 A=0.26240
8.3KJPN JAPANESE Study-wide 16760 G=0.73550 A=0.26450
GO Exome Sequencing Project Global Study-wide 12994 G=0.81861 A=0.18139
GO Exome Sequencing Project European American Sub 8594 G=0.9245 A=0.0755
GO Exome Sequencing Project African American Sub 4400 G=0.6118 A=0.3882
1000Genomes_30x Global Study-wide 6404 G=0.7114 A=0.2886
1000Genomes_30x African Sub 1786 G=0.4742 A=0.5258
1000Genomes_30x Europe Sub 1266 G=0.9036 A=0.0964
1000Genomes_30x South Asian Sub 1202 G=0.7704 A=0.2296
1000Genomes_30x East Asian Sub 1170 G=0.7231 A=0.2769
1000Genomes_30x American Sub 980 G=0.809 A=0.191
1000Genomes Global Study-wide 5008 G=0.7125 A=0.2875
1000Genomes African Sub 1322 G=0.4690 A=0.5310
1000Genomes East Asian Sub 1008 G=0.7282 A=0.2718
1000Genomes Europe Sub 1006 G=0.8996 A=0.1004
1000Genomes South Asian Sub 978 G=0.770 A=0.230
1000Genomes American Sub 694 G=0.801 A=0.199
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8975 A=0.1025
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9051 A=0.0949
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6648 A=0.3352
HapMap Global Study-wide 1864 G=0.6754 A=0.3246
HapMap American Sub 762 G=0.774 A=0.226
HapMap African Sub 678 G=0.509 A=0.491
HapMap Asian Sub 254 G=0.720 A=0.280
HapMap Europe Sub 170 G=0.829 A=0.171
Korean Genome Project KOREAN Study-wide 1832 G=0.6534 A=0.3466
Northern Sweden ACPOP Study-wide 600 G=0.922 A=0.078
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.989 A=0.011
FINRISK Finnish from FINRISK project Study-wide 302 G=0.967 A=0.033
SGDP_PRJ Global Study-wide 234 G=0.393 A=0.607
Qatari Global Study-wide 216 G=0.861 A=0.139
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
Siberian Global Study-wide 10 G=0.4 A=0.6
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.43603444G>A
GRCh38.p14 chr 15 NC_000015.10:g.43603444G>C
GRCh37.p13 chr 15 NC_000015.9:g.43895642G>A
GRCh37.p13 chr 15 NC_000015.9:g.43895642G>C
STRC RefSeqGene NG_011636.1:g.20357C>T
STRC RefSeqGene NG_011636.1:g.20357C>G
Gene: STRC, stereocilin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
STRC transcript NM_153700.2:c.4376-33C>T N/A Intron 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.

Allele: A (allele ID: 1267100 )
ClinVar Accession Disease Names Clinical Significance
RCV001688127.1 not provided Benign
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 C
GRCh38.p14 chr 15 NC_000015.10:g.43603444= NC_000015.10:g.43603444G>A NC_000015.10:g.43603444G>C
GRCh37.p13 chr 15 NC_000015.9:g.43895642= NC_000015.9:g.43895642G>A NC_000015.9:g.43895642G>C
STRC RefSeqGene NG_011636.1:g.20357= NG_011636.1:g.20357C>T NG_011636.1:g.20357C>G
STRC transcript NM_153700.2:c.4376-33= NM_153700.2:c.4376-33C>T NM_153700.2:c.4376-33C>G
STRC transcript variant X1 XM_005254193.1:c.4376-33= XM_005254193.1:c.4376-33C>T XM_005254193.1:c.4376-33C>G
STRC transcript variant X2 XM_005254194.1:c.2057-33= XM_005254194.1:c.2057-33C>T XM_005254194.1:c.2057-33C>G
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#.

89 SubSNP, 22 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35241299 May 24, 2005 (125)
2 ILLUMINA ss74991297 Dec 06, 2007 (129)
3 HGSV ss80933845 Dec 15, 2007 (130)
4 HGSV ss85828664 Dec 15, 2007 (130)
5 1000GENOMES ss108773512 Jan 23, 2009 (130)
6 ILLUMINA-UK ss118205965 Feb 14, 2009 (130)
7 KRIBB_YJKIM ss119901749 Dec 01, 2009 (131)
8 ILLUMINA ss173500911 Jul 04, 2010 (132)
9 1000GENOMES ss211601487 Jul 14, 2010 (132)
10 1000GENOMES ss236758929 Jul 15, 2010 (132)
11 1000GENOMES ss243148880 Jul 15, 2010 (132)
12 GMI ss282232673 May 04, 2012 (137)
13 PJP ss291827589 May 09, 2011 (134)
14 ILLUMINA ss479620233 May 04, 2012 (137)
15 ILLUMINA ss483394509 May 04, 2012 (137)
16 1000GENOMES ss491081865 May 04, 2012 (137)
17 CLINSEQ_SNP ss491699710 May 04, 2012 (137)
18 ILLUMINA ss533139274 Sep 08, 2015 (146)
19 SSMP ss660165370 Apr 25, 2013 (138)
20 NHLBI-ESP ss713226028 Apr 25, 2013 (138)
21 ILLUMINA ss779620583 Sep 08, 2015 (146)
22 ILLUMINA ss781026730 Sep 08, 2015 (146)
23 ILLUMINA ss835092988 Sep 08, 2015 (146)
24 JMKIDD_LAB ss1067551944 Aug 21, 2014 (142)
25 1000GENOMES ss1353235877 Aug 21, 2014 (142)
26 DDI ss1427608732 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1577583181 Apr 01, 2015 (144)
28 EVA_FINRISK ss1584093704 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1632877926 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1675871959 Apr 01, 2015 (144)
31 EVA_EXAC ss1691800230 Apr 01, 2015 (144)
32 EVA_DECODE ss1695744049 Apr 01, 2015 (144)
33 EVA_MGP ss1711395736 Apr 01, 2015 (144)
34 EVA_SVP ss1713485655 Apr 01, 2015 (144)
35 WEILL_CORNELL_DGM ss1935133238 Feb 12, 2016 (147)
36 GENOMED ss1968093581 Jul 19, 2016 (147)
37 JJLAB ss2028346446 Sep 14, 2016 (149)
38 ILLUMINA ss2095058506 Dec 20, 2016 (150)
39 USC_VALOUEV ss2156745572 Dec 20, 2016 (150)
40 ILLUMINA ss2633222259 Nov 08, 2017 (151)
41 GRF ss2701212215 Nov 08, 2017 (151)
42 GNOMAD ss2741200746 Nov 08, 2017 (151)
43 GNOMAD ss2749291937 Nov 08, 2017 (151)
44 GNOMAD ss2934236831 Nov 08, 2017 (151)
45 SWEGEN ss3013189811 Nov 08, 2017 (151)
46 CSHL ss3351090506 Nov 08, 2017 (151)
47 ILLUMINA ss3627348594 Oct 12, 2018 (152)
48 ILLUMINA ss3631215705 Oct 12, 2018 (152)
49 ILLUMINA ss3638082360 Oct 12, 2018 (152)
50 ILLUMINA ss3641910330 Oct 12, 2018 (152)
51 ILLUMINA ss3643066746 Oct 12, 2018 (152)
52 OMUKHERJEE_ADBS ss3646473661 Oct 12, 2018 (152)
53 ILLUMINA ss3652028193 Oct 12, 2018 (152)
54 EVA_DECODE ss3697783754 Jul 13, 2019 (153)
55 ACPOP ss3740875857 Jul 13, 2019 (153)
56 EVA ss3753014756 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3818333327 Jul 13, 2019 (153)
58 EVA ss3824913785 Apr 27, 2020 (154)
59 EVA ss3825858046 Apr 27, 2020 (154)
60 EVA ss3834207081 Apr 27, 2020 (154)
61 EVA ss3846190844 Apr 27, 2020 (154)
62 SGDP_PRJ ss3882798227 Apr 27, 2020 (154)
63 KRGDB ss3931945192 Apr 27, 2020 (154)
64 KOGIC ss3976028017 Apr 27, 2020 (154)
65 FSA-LAB ss3984072037 Apr 27, 2021 (155)
66 EVA ss3986646004 Apr 27, 2021 (155)
67 EVA ss4017698905 Apr 27, 2021 (155)
68 TOPMED ss4989331899 Apr 27, 2021 (155)
69 TOMMO_GENOMICS ss5215924051 Apr 27, 2021 (155)
70 EVA ss5237229796 Apr 27, 2021 (155)
71 1000G_HIGH_COVERAGE ss5298242193 Oct 16, 2022 (156)
72 EVA ss5315780025 Oct 16, 2022 (156)
73 EVA ss5418871109 Oct 16, 2022 (156)
74 HUGCELL_USP ss5491993914 Oct 16, 2022 (156)
75 EVA ss5511412001 Oct 16, 2022 (156)
76 1000G_HIGH_COVERAGE ss5599542557 Oct 16, 2022 (156)
77 EVA ss5624052516 Oct 16, 2022 (156)
78 SANFORD_IMAGENETICS ss5657396825 Oct 16, 2022 (156)
79 TOMMO_GENOMICS ss5769650451 Oct 16, 2022 (156)
80 EVA ss5799453707 Oct 16, 2022 (156)
81 EVA ss5800067964 Oct 16, 2022 (156)
82 EVA ss5800192993 Oct 16, 2022 (156)
83 YY_MCH ss5815283026 Oct 16, 2022 (156)
84 EVA ss5828126876 Oct 16, 2022 (156)
85 EVA ss5848400742 Oct 16, 2022 (156)
86 EVA ss5851269214 Oct 16, 2022 (156)
87 EVA ss5875649864 Oct 16, 2022 (156)
88 EVA ss5948794661 Oct 16, 2022 (156)
89 EVA ss5981289070 Oct 16, 2022 (156)
90 1000Genomes NC_000015.9 - 43895642 Oct 12, 2018 (152)
91 1000Genomes_30x NC_000015.10 - 43603444 Oct 16, 2022 (156)
92 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 43895642 Oct 12, 2018 (152)
93 ExAC NC_000015.9 - 43895642 Oct 12, 2018 (152)
94 FINRISK NC_000015.9 - 43895642 Apr 27, 2020 (154)
95 The Danish reference pan genome NC_000015.9 - 43895642 Apr 27, 2020 (154)
96 gnomAD - Genomes NC_000015.10 - 43603444 Apr 27, 2021 (155)
97 gnomAD - Exomes NC_000015.9 - 43895642 Jul 13, 2019 (153)
98 GO Exome Sequencing Project NC_000015.9 - 43895642 Oct 12, 2018 (152)
99 HapMap NC_000015.10 - 43603444 Apr 27, 2020 (154)
100 KOREAN population from KRGDB NC_000015.9 - 43895642 Apr 27, 2020 (154)
101 Korean Genome Project NC_000015.10 - 43603444 Apr 27, 2020 (154)
102 Medical Genome Project healthy controls from Spanish population NC_000015.9 - 43895642 Apr 27, 2020 (154)
103 Northern Sweden NC_000015.9 - 43895642 Jul 13, 2019 (153)
104 Qatari NC_000015.9 - 43895642 Apr 27, 2020 (154)
105 SGDP_PRJ NC_000015.9 - 43895642 Apr 27, 2020 (154)
106 Siberian NC_000015.9 - 43895642 Apr 27, 2020 (154)
107 8.3KJPN NC_000015.9 - 43895642 Apr 27, 2021 (155)
108 14KJPN NC_000015.10 - 43603444 Oct 16, 2022 (156)
109 TopMed NC_000015.10 - 43603444 Apr 27, 2021 (155)
110 UK 10K study - Twins NC_000015.9 - 43895642 Oct 12, 2018 (152)
111 ALFA NC_000015.10 - 43603444 Apr 27, 2021 (155)
112 ClinVar RCV001688127.1 Oct 16, 2022 (156)
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)
rs60054828 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35241299, ss80933845, ss85828664, ss108773512, ss118205965, ss211601487, ss282232673, ss291827589, ss483394509, ss491699710, ss1695744049, ss1713485655, ss3643066746 NC_000015.8:41682933:G:A NC_000015.10:43603443:G:A (self)
66299483, 36804627, 2171532, 90165, 3834360, 10465141, 1371057, 39122586, 511496, 14160722, 17175168, 34815207, 9261926, 73893358, 36804627, ss236758929, ss243148880, ss479620233, ss491081865, ss533139274, ss660165370, ss713226028, ss779620583, ss781026730, ss835092988, ss1067551944, ss1353235877, ss1427608732, ss1577583181, ss1584093704, ss1632877926, ss1675871959, ss1691800230, ss1711395736, ss1935133238, ss1968093581, ss2028346446, ss2095058506, ss2156745572, ss2633222259, ss2701212215, ss2741200746, ss2749291937, ss2934236831, ss3013189811, ss3351090506, ss3627348594, ss3631215705, ss3638082360, ss3641910330, ss3646473661, ss3652028193, ss3740875857, ss3753014756, ss3824913785, ss3825858046, ss3834207081, ss3882798227, ss3931945192, ss3984072037, ss3986646004, ss4017698905, ss5215924051, ss5315780025, ss5418871109, ss5511412001, ss5624052516, ss5657396825, ss5799453707, ss5800067964, ss5800192993, ss5828126876, ss5848400742, ss5948794661, ss5981289070 NC_000015.9:43895641:G:A NC_000015.10:43603443:G:A (self)
RCV001688127.1, 87068492, 467368382, 1252230, 32406018, 103487555, 204877559, 10939807143, ss3697783754, ss3818333327, ss3846190844, ss3976028017, ss4989331899, ss5237229796, ss5298242193, ss5491993914, ss5599542557, ss5769650451, ss5815283026, ss5851269214, ss5875649864 NC_000015.10:43603443:G:A NC_000015.10:43603443:G:A (self)
ss74991297, ss119901749, ss173500911 NT_010194.17:14686198:G:A NC_000015.10:43603443:G:A (self)
10939807143 NC_000015.10:43603443:G:C NC_000015.10:43603443:G: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 rs28495368

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