rs121913629

Orientation

minus

Stabilized

minus

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

Make rs121913629(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23423984

Gene

MYH7

is a	snp
is	mentioned by
dbSNP	rs121913629
dbSNP (classic)	rs121913629
ClinGen	rs121913629
ebi	rs121913629
HLI	rs121913629
Exac	rs121913629
Gnomad	rs121913629
Varsome	rs121913629
LitVar	rs121913629
Map	rs121913629
PheGenI	rs121913629
Biobank	rs121913629
1000 genomes	rs121913629
hgdp	rs121913629
ensembl	rs121913629
geneview	rs121913629
scholar	rs121913629
google	rs121913629
pharmgkb	rs121913629
gwascentral	rs121913629
openSNP	rs121913629
23andMe	rs121913629
SNPshot	rs121913629
SNPdbe	rs121913629
MSV3d	rs121913629
GWAS Ctlg	rs121913629

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	0007
Related	also

ClinVar
Risk	rs121913629(A;A)
Alt	rs121913629(A;A)
Reference	Rs121913629(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 1 not specified
Variation	info
Gene	MYH7
CLNDBN	Familial hypertrophic cardiomyopathy 1 not specified
Reversed	1
HGVS	NC_000014.8:g.23893193C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015149.26, RCV000154208.2,