rs121913628

Orientation

minus

Stabilized

minus

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

Make rs121913628(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23424059

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913628
dbSNP (classic)	rs121913628
ClinGen	rs121913628
ebi	rs121913628
HLI	rs121913628
Exac	rs121913628
Gnomad	rs121913628
Varsome	rs121913628
LitVar	rs121913628
Map	rs121913628
PheGenI	rs121913628
Biobank	rs121913628
1000 genomes	rs121913628
hgdp	rs121913628
ensembl	rs121913628
geneview	rs121913628
scholar	rs121913628
google	rs121913628
pharmgkb	rs121913628
gwascentral	rs121913628
openSNP	rs121913628
23andMe	rs121913628
SNPshot	rs121913628
SNPdbe	rs121913628
MSV3d	rs121913628
GWAS Ctlg	rs121913628

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	0006
Related	also

ClinVar
Risk	rs121913628(A;A)
Alt	rs121913628(A;A)
Reference	Rs121913628(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	1
HGVS	NC_000014.8:g.23893268C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015148.29, RCV000035824.3, RCV000158573.2, RCV000197762.1, RCV000252292.1,