rs121908991

Orientation

minus

Stabilized

minus

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

Make rs121908991(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

151560610

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs121908991
dbSNP (classic)	rs121908991
ClinGen	rs121908991
ebi	rs121908991
HLI	rs121908991
Exac	rs121908991
Gnomad	rs121908991
Varsome	rs121908991
LitVar	rs121908991
Map	rs121908991
PheGenI	rs121908991
Biobank	rs121908991
1000 genomes	rs121908991
hgdp	rs121908991
ensembl	rs121908991
geneview	rs121908991
scholar	rs121908991
google	rs121908991
pharmgkb	rs121908991
gwascentral	rs121908991
openSNP	rs121908991
23andMe	rs121908991
SNPshot	rs121908991
SNPdbe	rs121908991
MSV3d	rs121908991
GWAS Ctlg	rs121908991

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	0007
Related	also

ClinVar
Risk	rs121908991(A;A) rs121908991(T;T)
Alt	rs121908991(A;A) rs121908991(T;T)
Reference	Rs121908991(G;G)
Significance	Pathogenic
Disease	not specified Glycogen storage disease of heart Primary familial hypertrophic cardiomyopathy not provided
Variation	info
Gene	PRKAG2
CLNDBN	not specified Glycogen storage disease of heart, lethal congenital Primary familial hypertrophic cardiomyopathy not provided
Reversed	1
HGVS	NC_000007.13:g.151257696C>A; NC_000007.13:g.151257696C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000038921.2, RCV000007255.4, RCV000038920.2, RCV000159019.1,