rs3218714

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6.2	Familial Hypertrophic Cardiomyopathy
(C;T)	6	Familial Hypertrophic Cardiomyopathy
(T;T)	6	Familial Hypertrophic Cardiomyopathy

Reference

GRCh38 38.1/141

Chromosome

14

Position

23429279

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs3218714
dbSNP (classic)	rs3218714
ClinGen	rs3218714
ebi	rs3218714
HLI	rs3218714
Exac	rs3218714
Gnomad	rs3218714
Varsome	rs3218714
LitVar	rs3218714
Map	rs3218714
PheGenI	rs3218714
Biobank	rs3218714
1000 genomes	rs3218714
hgdp	rs3218714
ensembl	rs3218714
geneview	rs3218714
scholar	rs3218714
google	rs3218714
pharmgkb	rs3218714
gwascentral	rs3218714
openSNP	rs3218714
23andMe	rs3218714
SNPshot	rs3218714
SNPdbe	rs3218714
MSV3d	rs3218714
GWAS Ctlg	rs3218714

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].

see also OMIM 160760.0015

?	(C;C) (C;T) (T;T)	28

OMIM	160760
Desc	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
Variant	0015
Related	also

ClinVar
Risk	Rs3218714(T;T)
Alt	Rs3218714(T;T)
Reference	Rs3218714(C;C)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23898488G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015158.23, RCV000035707.2, RCV000158787.3, RCV000456661.1,