rs121913632

Orientation

minus

Stabilized

minus

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

Make rs121913632(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23425760

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913632
dbSNP (classic)	rs121913632
ClinGen	rs121913632
ebi	rs121913632
HLI	rs121913632
Exac	rs121913632
Gnomad	rs121913632
Varsome	rs121913632
LitVar	rs121913632
Map	rs121913632
PheGenI	rs121913632
Biobank	rs121913632
1000 genomes	rs121913632
hgdp	rs121913632
ensembl	rs121913632
geneview	rs121913632
scholar	rs121913632
google	rs121913632
pharmgkb	rs121913632
gwascentral	rs121913632
openSNP	rs121913632
23andMe	rs121913632
SNPshot	rs121913632
SNPdbe	rs121913632
MSV3d	rs121913632
GWAS Ctlg	rs121913632

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	0011
Related	also

ClinVar
Risk	rs121913632(A;A) rs121913632(C;C) rs121913632(T;T)
Alt	rs121913632(A;A) rs121913632(C;C) rs121913632(T;T)
Reference	Rs121913632(G;G)
Significance	Other
Disease	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYH7
CLNDBN	Primary familial hypertrophic cardiomyopathy not provided Familial hypertrophic cardiomyopathy 1 not specified Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000014.8:g.23894969C>A; NC_000014.8:g.23894969C>G; NC_000014.8:g.23894969C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000154255.1, RCV000158523.2, RCV000162338.2, RCV000168866.2, RCV000015154.28, RCV000035779.3, RCV000158522.2, RCV000472342.1, RCV000035778.3, RCV000158521.3, RCV000243586.1, RCV000461730.1,