rs121913630

Orientation

minus

Stabilized

minus

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

Make rs121913630(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23425814

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913630
dbSNP (classic)	rs121913630
ClinGen	rs121913630
ebi	rs121913630
HLI	rs121913630
Exac	rs121913630
Gnomad	rs121913630
Varsome	rs121913630
LitVar	rs121913630
Map	rs121913630
PheGenI	rs121913630
Biobank	rs121913630
1000 genomes	rs121913630
hgdp	rs121913630
ensembl	rs121913630
geneview	rs121913630
scholar	rs121913630
google	rs121913630
pharmgkb	rs121913630
gwascentral	rs121913630
openSNP	rs121913630
23andMe	rs121913630
SNPshot	rs121913630
SNPdbe	rs121913630
MSV3d	rs121913630
GWAS Ctlg	rs121913630

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	0008
Related	also

ClinVar
Risk	rs121913630(G;G) rs121913630(T;T)
Alt	rs121913630(G;G) rs121913630(T;T)
Reference	Rs121913630(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.23895023G>A; NC_000014.8:g.23895023G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015151.29, RCV000035772.6, RCV000158516.3, RCV000253053.1, RCV000462477.1, RCV000035771.2, RCV000158837.3, RCV000201494.1, RCV000227196.2,