rs121913631

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs121913631(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23424107

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913631
dbSNP (classic)	rs121913631
ClinGen	rs121913631
ebi	rs121913631
HLI	rs121913631
Exac	rs121913631
Gnomad	rs121913631
Varsome	rs121913631
LitVar	rs121913631
Map	rs121913631
PheGenI	rs121913631
Biobank	rs121913631
1000 genomes	rs121913631
hgdp	rs121913631
ensembl	rs121913631
geneview	rs121913631
scholar	rs121913631
google	rs121913631
pharmgkb	rs121913631
gwascentral	rs121913631
openSNP	rs121913631
23andMe	rs121913631
SNPshot	rs121913631
SNPdbe	rs121913631
MSV3d	rs121913631
GWAS Ctlg	rs121913631

Max Magnitude

6.2

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	0010
Related	also

ClinVar
Risk	rs121913631(G;G)
Alt	rs121913631(G;G)
Reference	Rs121913631(C;C)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23893316G>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015153.29, RCV000035820.3, RCV000078452.6, RCV000247943.1, RCV000458449.1,