rs121913627

Orientation

minus

Stabilized

minus

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

Make rs121913627(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23427657

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913627
dbSNP (classic)	rs121913627
ClinGen	rs121913627
ebi	rs121913627
HLI	rs121913627
Exac	rs121913627
Gnomad	rs121913627
Varsome	rs121913627
LitVar	rs121913627
Map	rs121913627
PheGenI	rs121913627
Biobank	rs121913627
1000 genomes	rs121913627
hgdp	rs121913627
ensembl	rs121913627
geneview	rs121913627
scholar	rs121913627
google	rs121913627
pharmgkb	rs121913627
gwascentral	rs121913627
openSNP	rs121913627
23andMe	rs121913627
SNPshot	rs121913627
SNPdbe	rs121913627
MSV3d	rs121913627
GWAS Ctlg	rs121913627

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].

This mutation is reported to be one of the four most common HCM-associated in Finland.

OMIM	160760
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913627(A;A)
Alt	rs121913627(A;A)
Reference	Rs121913627(G;G)
Significance	Other
Disease	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000014.8:g.23896866C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015147.29, RCV000035750.6, RCV000223823.1, RCV000252267.1, RCV000473084.1,