rs267606978

Orientation

minus

Stabilized

minus

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

Make rs267606978(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

151564146

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs267606978
dbSNP (classic)	rs267606978
ClinGen	rs267606978
ebi	rs267606978
HLI	rs267606978
Exac	rs267606978
Gnomad	rs267606978
Varsome	rs267606978
LitVar	rs267606978
Map	rs267606978
PheGenI	rs267606978
Biobank	rs267606978
1000 genomes	rs267606978
hgdp	rs267606978
ensembl	rs267606978
geneview	rs267606978
scholar	rs267606978
google	rs267606978
pharmgkb	rs267606978
gwascentral	rs267606978
openSNP	rs267606978
23andMe	rs267606978
SNPshot	rs267606978
SNPdbe	rs267606978
MSV3d	rs267606978
GWAS Ctlg	rs267606978

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].

ClinVar
Risk	rs267606978(C;C)
Alt	rs267606978(C;C)
Reference	Rs267606978(G;G)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 6 not provided Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	PRKAG2
CLNDBN	Familial hypertrophic cardiomyopathy 6 not provided Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000007.13:g.151261232C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007258.6, RCV000159017.2, RCV000211740.1,