rs121913641

Orientation

minus

Stabilized

minus

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

Make rs121913641(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23425970

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913641
dbSNP (classic)	rs121913641
ClinGen	rs121913641
ebi	rs121913641
HLI	rs121913641
Exac	rs121913641
Gnomad	rs121913641
Varsome	rs121913641
LitVar	rs121913641
Map	rs121913641
PheGenI	rs121913641
Biobank	rs121913641
1000 genomes	rs121913641
hgdp	rs121913641
ensembl	rs121913641
geneview	rs121913641
scholar	rs121913641
google	rs121913641
pharmgkb	rs121913641
gwascentral	rs121913641
openSNP	rs121913641
23andMe	rs121913641
SNPshot	rs121913641
SNPdbe	rs121913641
MSV3d	rs121913641
GWAS Ctlg	rs121913641

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	0021
Related	also

ClinVar
Risk	rs121913641(A;A) rs121913641(C;C)
Alt	rs121913641(A;A) rs121913641(C;C)
Reference	Rs121913641(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23895179C>G; NC_000014.8:g.23895179C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000201464.1, RCV000223766.1, RCV000015163.25, RCV000035770.3, RCV000158513.2, RCV000250394.1, RCV000468000.1,