rs121913638

Orientation

minus

Stabilized

minus

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

Make rs121913638(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23425980

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913638
dbSNP (classic)	rs121913638
ClinGen	rs121913638
ebi	rs121913638
HLI	rs121913638
Exac	rs121913638
Gnomad	rs121913638
Varsome	rs121913638
LitVar	rs121913638
Map	rs121913638
PheGenI	rs121913638
Biobank	rs121913638
1000 genomes	rs121913638
hgdp	rs121913638
ensembl	rs121913638
geneview	rs121913638
scholar	rs121913638
google	rs121913638
pharmgkb	rs121913638
gwascentral	rs121913638
openSNP	rs121913638
23andMe	rs121913638
SNPshot	rs121913638
SNPdbe	rs121913638
MSV3d	rs121913638
GWAS Ctlg	rs121913638

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	0018
Related	also

ClinVar
Risk	rs121913638(A;A)
Alt	rs121913638(A;A)
Reference	Rs121913638(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided not specified Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23895189C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015161.26, RCV000035767.2, RCV000158511.3, RCV000168863.2, RCV000233499.2,