Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs147871745

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:23390162 (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=0.009691 (2565/264690, TOPMED)
A=0.002438 (610/250246, GnomAD_exome)
A=0.009297 (1299/139716, GnomAD) (+ 9 more)
A=0.002997 (356/118786, ExAC)
A=0.00004 (1/28258, 14KJPN)
A=0.00417 (87/20850, ALFA)
A=0.01173 (152/12960, GO-ESP)
A=0.0078 (50/6404, 1000G_30x)
A=0.0076 (38/5008, 1000G)
A=0.005 (1/216, Qatari)
G=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MYH6 : Synonymous Variant
MIR208A : 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 20850 G=0.99583 A=0.00417
European Sub 13680 G=0.99993 A=0.00007
African Sub 3410 G=0.9762 A=0.0238
African Others Sub 116 G=0.966 A=0.034
African American Sub 3294 G=0.9766 A=0.0234
Asian Sub 164 G=1.000 A=0.000
East Asian Sub 110 G=1.000 A=0.000
Other Asian Sub 54 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=0.998 A=0.002
South Asian Sub 94 G=1.00 A=0.00
Other Sub 2746 G=0.9985 A=0.0015


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=0.990309 A=0.009691
gnomAD - Exomes Global Study-wide 250246 G=0.997562 A=0.002438
gnomAD - Exomes European Sub 134374 G=0.999918 A=0.000082
gnomAD - Exomes Asian Sub 48980 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34566 G=0.99792 A=0.00208
gnomAD - Exomes African Sub 16168 G=0.96815 A=0.03185
gnomAD - Exomes Ashkenazi Jewish Sub 10050 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6108 G=0.9982 A=0.0018
gnomAD - Genomes Global Study-wide 139716 G=0.990703 A=0.009297
gnomAD - Genomes European Sub 75752 G=0.99991 A=0.00009
gnomAD - Genomes African Sub 41770 G=0.97029 A=0.02971
gnomAD - Genomes American Sub 13606 G=0.99721 A=0.00279
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2138 G=0.9939 A=0.0061
ExAC Global Study-wide 118786 G=0.997003 A=0.002997
ExAC Europe Sub 71536 G=0.99992 A=0.00008
ExAC Asian Sub 24896 G=0.99996 A=0.00004
ExAC American Sub 11338 G=0.99780 A=0.00220
ExAC African Sub 10128 G=0.96821 A=0.03179
ExAC Other Sub 888 G=0.998 A=0.002
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
Allele Frequency Aggregator Total Global 20850 G=0.99583 A=0.00417
Allele Frequency Aggregator European Sub 13680 G=0.99993 A=0.00007
Allele Frequency Aggregator African Sub 3410 G=0.9762 A=0.0238
Allele Frequency Aggregator Other Sub 2746 G=0.9985 A=0.0015
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.998 A=0.002
Allele Frequency Aggregator Asian Sub 164 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 12960 G=0.98827 A=0.01173
GO Exome Sequencing Project European American Sub 8556 G=0.9998 A=0.0002
GO Exome Sequencing Project African American Sub 4404 G=0.9659 A=0.0341
1000Genomes_30x Global Study-wide 6404 G=0.9922 A=0.0078
1000Genomes_30x African Sub 1786 G=0.9720 A=0.0280
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9924 A=0.0076
1000Genomes African Sub 1322 G=0.9713 A=0.0287
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Qatari Global Study-wide 216 G=0.995 A=0.005
SGDP_PRJ Global Study-wide 4 G=0.5 A=0.5
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 14 NC_000014.9:g.23390162G>A
GRCh37.p13 chr 14 NC_000014.8:g.23859371G>A
MYH6 RefSeqGene (LRG_389) NG_023444.1:g.23116C>T
Gene: MYH6, myosin heavy chain 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MYH6 transcript NM_002471.4:c.3627C>T I [ATC] > I [ATT] Coding Sequence Variant
myosin-6 NP_002462.2:p.Ile1209= I (Ile) > I (Ile) Synonymous Variant
Gene: MIR208A, microRNA 208a (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR208A transcript NR_029595.1:n. N/A Upstream 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.

Allele: A (allele ID: 53656 )
ClinVar Accession Disease Names Clinical Significance
RCV000037482.12 not specified Benign
RCV000229860.10 Hypertrophic cardiomyopathy 14 Benign
RCV000249217.1 Cardiovascular phenotype Benign
RCV000769414.1 Cardiomyopathy Likely-Benign
RCV001529054.4 not provided Likely-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
GRCh38.p14 chr 14 NC_000014.9:g.23390162= NC_000014.9:g.23390162G>A
GRCh37.p13 chr 14 NC_000014.8:g.23859371= NC_000014.8:g.23859371G>A
MYH6 RefSeqGene (LRG_389) NG_023444.1:g.23116= NG_023444.1:g.23116C>T
MYH6 transcript NM_002471.4:c.3627= NM_002471.4:c.3627C>T
MYH6 transcript NM_002471.3:c.3627= NM_002471.3:c.3627C>T
myosin-6 NP_002462.2:p.Ile1209= NP_002462.2:p.Ile1209=
MYH6 transcript variant X2 XM_005267695.1:c.2805+3906= XM_005267695.1:c.2805+3906C>T
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#.

23 SubSNP, 11 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342383622 May 09, 2011 (134)
2 1000GENOMES ss489026674 May 04, 2012 (137)
3 CLINSEQ_SNP ss491684931 May 04, 2012 (137)
4 TISHKOFF ss563969948 Apr 25, 2013 (138)
5 1000GENOMES ss1350189127 Aug 21, 2014 (142)
6 EVA_EXAC ss1691413827 Apr 01, 2015 (144)
7 EVA_MCP ss1815615602 Sep 08, 2015 (146)
8 WEILL_CORNELL_DGM ss1934303698 Feb 12, 2016 (147)
9 HUMAN_LONGEVITY ss2200306796 Dec 20, 2016 (150)
10 GNOMAD ss2740606824 Nov 08, 2017 (151)
11 GNOMAD ss2749105590 Nov 08, 2017 (151)
12 GNOMAD ss2925367826 Nov 08, 2017 (151)
13 EVA ss3824836152 Apr 27, 2020 (154)
14 EVA ss3836376997 Apr 27, 2020 (154)
15 SGDP_PRJ ss3881073630 Apr 27, 2020 (154)
16 EVA ss3986612946 Apr 26, 2021 (155)
17 TOPMED ss4963553741 Apr 26, 2021 (155)
18 1000G_HIGH_COVERAGE ss5295505059 Oct 16, 2022 (156)
19 EVA ss5413977324 Oct 16, 2022 (156)
20 1000G_HIGH_COVERAGE ss5595405998 Oct 16, 2022 (156)
21 SANFORD_IMAGENETICS ss5655805382 Oct 16, 2022 (156)
22 TOMMO_GENOMICS ss5764852959 Oct 16, 2022 (156)
23 EVA ss5947223670 Oct 16, 2022 (156)
24 1000Genomes NC_000014.8 - 23859371 Oct 12, 2018 (152)
25 1000Genomes_30x NC_000014.9 - 23390162 Oct 16, 2022 (156)
26 ExAC NC_000014.8 - 23859371 Oct 12, 2018 (152)
27 gnomAD - Genomes NC_000014.9 - 23390162 Apr 26, 2021 (155)
28 gnomAD - Exomes NC_000014.8 - 23859371 Jul 13, 2019 (153)
29 GO Exome Sequencing Project NC_000014.8 - 23859371 Oct 12, 2018 (152)
30 Qatari NC_000014.8 - 23859371 Apr 27, 2020 (154)
31 SGDP_PRJ NC_000014.8 - 23859371 Apr 27, 2020 (154)
32 14KJPN NC_000014.9 - 23390162 Oct 16, 2022 (156)
33 TopMed NC_000014.9 - 23390162 Apr 26, 2021 (155)
34 ALFA NC_000014.9 - 23390162 Apr 26, 2021 (155)
35 ClinVar RCV000037482.12 Oct 16, 2022 (156)
36 ClinVar RCV000229860.10 Oct 16, 2022 (156)
37 ClinVar RCV000249217.1 Oct 12, 2018 (152)
38 ClinVar RCV000769414.1 Jul 13, 2019 (153)
39 ClinVar RCV001529054.4 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491684931 NC_000014.7:22929210:G:A NC_000014.9:23390161:G:A (self)
63138074, 1753272, 9855816, 1293497, 16345628, 33090610, ss342383622, ss489026674, ss563969948, ss1350189127, ss1691413827, ss1815615602, ss1934303698, ss2740606824, ss2749105590, ss2925367826, ss3824836152, ss3836376997, ss3881073630, ss3986612946, ss5413977324, ss5655805382, ss5947223670 NC_000014.8:23859370:G:A NC_000014.9:23390161:G:A (self)
RCV000037482.12, RCV000229860.10, RCV000249217.1, RCV000769414.1, RCV001529054.4, 82931933, 445241849, 98690063, 179099400, 1351305169, ss2200306796, ss4963553741, ss5295505059, ss5595405998, ss5764852959 NC_000014.9:23390161:G:A NC_000014.9:23390161: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 rs147871745
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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