rs121913625

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	Familial hypertrophic cardiomyopathy (possible)

Make rs121913625(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23429005

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913625
dbSNP (classic)	rs121913625
ClinGen	rs121913625
ebi	rs121913625
HLI	rs121913625
Exac	rs121913625
Gnomad	rs121913625
Varsome	rs121913625
LitVar	rs121913625
Map	rs121913625
PheGenI	rs121913625
Biobank	rs121913625
1000 genomes	rs121913625
hgdp	rs121913625
ensembl	rs121913625
geneview	rs121913625
scholar	rs121913625
google	rs121913625
pharmgkb	rs121913625
gwascentral	rs121913625
openSNP	rs121913625
23andMe	rs121913625
SNPshot	rs121913625
SNPdbe	rs121913625
MSV3d	rs121913625
GWAS Ctlg	rs121913625

Max Magnitude

6

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].

OMIM	160760
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913625(A;A) rs121913625(T;T)
Alt	rs121913625(A;A) rs121913625(T;T)
Reference	Rs121913625(C;C)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy not specified
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Familial restrictive cardiomyopathy not specified
Reversed	1
HGVS	NC_000014.8:g.23898214G>A; NC_000014.8:g.23898214G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015145.27, RCV000035717.4, RCV000158799.3, RCV000230258.2, RCV000487453.1, RCV000015190.22, RCV000154254.2,