rs121908987

Orientation

minus

Stabilized

minus

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

Make rs121908987(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

151576412

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs121908987
dbSNP (classic)	rs121908987
ClinGen	rs121908987
ebi	rs121908987
HLI	rs121908987
Exac	rs121908987
Gnomad	rs121908987
Varsome	rs121908987
LitVar	rs121908987
Map	rs121908987
PheGenI	rs121908987
Biobank	rs121908987
1000 genomes	rs121908987
hgdp	rs121908987
ensembl	rs121908987
geneview	rs121908987
scholar	rs121908987
google	rs121908987
pharmgkb	rs121908987
gwascentral	rs121908987
openSNP	rs121908987
23andMe	rs121908987
SNPshot	rs121908987
SNPdbe	rs121908987
MSV3d	rs121908987
GWAS Ctlg	rs121908987

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	602743
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908987(A;A) rs121908987(T;T)
Alt	rs121908987(A;A) rs121908987(T;T)
Reference	Rs121908987(G;G)
Significance	Pathogenic
Disease	Wolff-Parkinson-White pattern Familial hypertrophic cardiomyopathy 6 not provided Primary familial hypertrophic cardiomyopathy Glycogen storage disease of heart
Variation	info
Gene	PRKAG2
CLNDBN	Wolff-Parkinson-White pattern Familial hypertrophic cardiomyopathy 6 not provided Primary familial hypertrophic cardiomyopathy Glycogen storage disease of heart, lethal congenital
Reversed	1
HGVS	NC_000007.13:g.151273498C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007248.3, RCV000007249.7, RCV000159005.3, RCV000211845.1, RCV000458247.1,