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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.

rs144200285

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:23417562 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000026 (7/264690, TOPMED)
T=0.000024 (6/251454, GnomAD_exome)
T=0.000050 (7/140306, GnomAD) (+ 3 more)
T=0.000049 (6/121400, ExAC)
T=0.00005 (1/20434, ALFA)
T=0.00015 (2/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MYH7 : Missense Variant
MHRT : Non Coding Transcript Variant
MIR208B : 500B Downstream 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 36796 C=0.99995 T=0.00005
European Sub 25918 C=1.00000 T=0.00000
African Sub 7736 C=0.9997 T=0.0003
African Others Sub 298 C=1.000 T=0.000
African American Sub 7438 C=0.9997 T=0.0003
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 2176 C=1.0000 T=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 C=0.999974 T=0.000026
gnomAD - Exomes Global Study-wide 251454 C=0.999976 T=0.000024
gnomAD - Exomes European Sub 135380 C=0.999978 T=0.000022
gnomAD - Exomes Asian Sub 49010 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 34592 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16254 C=0.99988 T=0.00012
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6138 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140306 C=0.999950 T=0.000050
gnomAD - Genomes European Sub 75964 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42068 C=0.99986 T=0.00014
gnomAD - Genomes American Sub 13664 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
ExAC Global Study-wide 121400 C=0.999951 T=0.000049
ExAC Europe Sub 73346 C=0.99995 T=0.00005
ExAC Asian Sub 25166 C=0.99996 T=0.00004
ExAC American Sub 11576 C=1.00000 T=0.00000
ExAC African Sub 10404 C=0.99990 T=0.00010
ExAC Other Sub 908 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 20434 C=0.99995 T=0.00005
Allele Frequency Aggregator European Sub 15828 C=1.00000 T=0.00000
Allele Frequency Aggregator African Sub 2898 C=0.9997 T=0.0003
Allele Frequency Aggregator Other Sub 742 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99985 T=0.00015
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=0.9998 T=0.0002
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.23417562C>G
GRCh38.p14 chr 14 NC_000014.9:g.23417562C>T
GRCh37.p13 chr 14 NC_000014.8:g.23886771C>G
GRCh37.p13 chr 14 NC_000014.8:g.23886771C>T
MYH7 RefSeqGene (LRG_384) NG_007884.1:g.23100G>C
MYH7 RefSeqGene (LRG_384) NG_007884.1:g.23100G>A
Gene: MYH7, myosin heavy chain 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MYH7 transcript variant 1 NM_000257.4:c.4294G>C V [GTA] > L [CTA] Coding Sequence Variant
myosin-7 NP_000248.2:p.Val1432Leu V (Val) > L (Leu) Missense Variant
MYH7 transcript variant 1 NM_000257.4:c.4294G>A V [GTA] > I [ATA] Coding Sequence Variant
myosin-7 NP_000248.2:p.Val1432Ile V (Val) > I (Ile) Missense Variant
MYH7 transcript variant X1 XM_017021340.2:c.4294G>C V [GTA] > L [CTA] Coding Sequence Variant
myosin-7 isoform X1 XP_016876829.1:p.Val1432L…

XP_016876829.1:p.Val1432Leu

V (Val) > L (Leu) Missense Variant
MYH7 transcript variant X1 XM_017021340.2:c.4294G>A V [GTA] > I [ATA] Coding Sequence Variant
myosin-7 isoform X1 XP_016876829.1:p.Val1432I…

XP_016876829.1:p.Val1432Ile

V (Val) > I (Ile) Missense Variant
Gene: MHRT, myosin heavy chain associated RNA transcript (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MHRT transcript NR_126491.1:n.843C>G N/A Non Coding Transcript Variant
MHRT transcript NR_126491.1:n.843C>T N/A Non Coding Transcript Variant
Gene: MIR208B, microRNA 208b (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR208B transcript NR_030624.1:n. N/A Downstream 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: T (allele ID: 445204 )
ClinVar Accession Disease Names Clinical Significance
RCV000712357.3 not provided Uncertain-Significance
RCV000798106.4 Hypertrophic cardiomyopathy Uncertain-Significance
RCV001176835.2 Cardiomyopathy Uncertain-Significance
RCV001293072.1 Primary dilated cardiomyopathy Uncertain-Significance
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 C= G T
GRCh38.p14 chr 14 NC_000014.9:g.23417562= NC_000014.9:g.23417562C>G NC_000014.9:g.23417562C>T
GRCh37.p13 chr 14 NC_000014.8:g.23886771= NC_000014.8:g.23886771C>G NC_000014.8:g.23886771C>T
MYH7 RefSeqGene (LRG_384) NG_007884.1:g.23100= NG_007884.1:g.23100G>C NG_007884.1:g.23100G>A
MYH7 transcript variant 1 NM_000257.4:c.4294= NM_000257.4:c.4294G>C NM_000257.4:c.4294G>A
MYH7 transcript NM_000257.3:c.4294= NM_000257.3:c.4294G>C NM_000257.3:c.4294G>A
MYH7 transcript NM_000257.2:c.4294= NM_000257.2:c.4294G>C NM_000257.2:c.4294G>A
MYH7 transcript variant 2 NM_001407004.1:c.4294= NM_001407004.1:c.4294G>C NM_001407004.1:c.4294G>A
MYH7 transcript variant X1 XM_017021340.2:c.4294= XM_017021340.2:c.4294G>C XM_017021340.2:c.4294G>A
MHRT transcript NR_126491.1:n.843= NR_126491.1:n.843C>G NR_126491.1:n.843C>T
myosin-7 NP_000248.2:p.Val1432= NP_000248.2:p.Val1432Leu NP_000248.2:p.Val1432Ile
myosin-7 isoform X1 XP_016876829.1:p.Val1432= XP_016876829.1:p.Val1432Leu XP_016876829.1:p.Val1432Ile
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#.

12 SubSNP, 6 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342383755 May 09, 2011 (134)
2 EXOME_CHIP ss491482913 May 04, 2012 (137)
3 EVA_EXAC ss1691415572 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2200308682 Dec 20, 2016 (150)
5 GNOMAD ss2740609132 Nov 08, 2017 (151)
6 GNOMAD ss2749106296 Nov 08, 2017 (151)
7 GNOMAD ss2925370077 Nov 08, 2017 (151)
8 AFFY ss2985015580 Nov 08, 2017 (151)
9 ILLUMINA ss3653787001 Oct 12, 2018 (152)
10 EVA_DECODE ss3696277718 Jul 13, 2019 (153)
11 EVA ss3824836553 Apr 27, 2020 (154)
12 TOPMED ss4963560827 Apr 26, 2021 (155)
13 ExAC NC_000014.8 - 23886771 Oct 12, 2018 (152)
14 gnomAD - Genomes NC_000014.9 - 23417562 Apr 26, 2021 (155)
15 gnomAD - Exomes NC_000014.8 - 23886771 Jul 13, 2019 (153)
16 GO Exome Sequencing Project NC_000014.8 - 23886771 Oct 12, 2018 (152)
17 TopMed NC_000014.9 - 23417562 Apr 26, 2021 (155)
18 ALFA NC_000014.9 - 23417562 Apr 26, 2021 (155)
19 ClinVar RCV000712357.3 Oct 16, 2022 (156)
20 ClinVar RCV000798106.4 Oct 16, 2022 (156)
21 ClinVar RCV001176835.2 Oct 16, 2022 (156)
22 ClinVar RCV001293072.1 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3696277718 NC_000014.9:23417561:C:G NC_000014.9:23417561:C:G (self)
1755088, 9858333, 1293897, ss342383755, ss491482913, ss1691415572, ss2740609132, ss2749106296, ss2925370077, ss2985015580, ss3653787001, ss3824836553 NC_000014.8:23886770:C:T NC_000014.9:23417561:C:T (self)
RCV000712357.3, RCV000798106.4, RCV001176835.2, RCV001293072.1, 445247822, 179106486, 1803968400, ss2200308682, ss4963560827 NC_000014.9:23417561:C:T NC_000014.9:23417561:C:T (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 rs144200285

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