rs121913624

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Familial hypertrophic cardiomyopathy (possible)
(G;G)	0	common in clinvar

Make rs121913624(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23429278

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913624
dbSNP (classic)	rs121913624
ClinGen	rs121913624
ebi	rs121913624
HLI	rs121913624
Exac	rs121913624
Gnomad	rs121913624
Varsome	rs121913624
LitVar	rs121913624
Map	rs121913624
PheGenI	rs121913624
Biobank	rs121913624
1000 genomes	rs121913624
hgdp	rs121913624
ensembl	rs121913624
geneview	rs121913624
scholar	rs121913624
google	rs121913624
pharmgkb	rs121913624
gwascentral	rs121913624
openSNP	rs121913624
23andMe	rs121913624
SNPshot	rs121913624
SNPdbe	rs121913624
MSV3d	rs121913624
GWAS Ctlg	rs121913624

Merged from

Rs121913635

Max Magnitude

6

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	0001
Related	also

ClinVar
Risk	rs121913624(A;A) rs121913624(T;T)
Alt	rs121913624(A;A) rs121913624(T;T)
Reference	Rs121913624(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 not provided Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23898487C>A; NC_000014.8:g.23898487C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015157.22, RCV000158679.2, RCV000015143.28, RCV000035708.3, RCV000158788.2, RCV000199447.2,