rs28938173

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	3	Familial Hypertrophic Cardiomyopathy
(A;C)	6.2	Familial Hypertrophic Cardiomyopathy
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

151568750

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs28938173
dbSNP (classic)	rs28938173
ClinGen	rs28938173
ebi	rs28938173
HLI	rs28938173
Exac	rs28938173
Gnomad	rs28938173
Varsome	rs28938173
LitVar	rs28938173
Map	rs28938173
PheGenI	rs28938173
Biobank	rs28938173
1000 genomes	rs28938173
hgdp	rs28938173
ensembl	rs28938173
geneview	rs28938173
scholar	rs28938173
google	rs28938173
pharmgkb	rs28938173
gwascentral	rs28938173
openSNP	rs28938173
23andMe	rs28938173
SNPshot	rs28938173
SNPdbe	rs28938173
MSV3d	rs28938173
GWAS Ctlg	rs28938173

Max Magnitude

6.2

Familial hypertrophic cardiomyopathy

see also OMIM 602743.0004

OMIM	602743
Desc	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
Variant	0004
Related	also

ClinVar
Risk	Rs28938173(A;A)
Alt	Rs28938173(A;A)
Reference	Rs28938173(C;C)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 6 Primary familial hypertrophic cardiomyopathy
Variation	info
Gene	PRKAG2
CLNDBN	Familial hypertrophic cardiomyopathy 6 Primary familial hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000007.13:g.151265836G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007252.6, RCV000211739.1,