rs727504392

Orientation

minus

Stabilized

minus

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

Make rs727504392(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

151572685

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs727504392
dbSNP (classic)	rs727504392
ClinGen	rs727504392
ebi	rs727504392
HLI	rs727504392
Exac	rs727504392
Gnomad	rs727504392
Varsome	rs727504392
LitVar	rs727504392
Map	rs727504392
PheGenI	rs727504392
Biobank	rs727504392
1000 genomes	rs727504392
hgdp	rs727504392
ensembl	rs727504392
geneview	rs727504392
scholar	rs727504392
google	rs727504392
pharmgkb	rs727504392
gwascentral	rs727504392
openSNP	rs727504392
23andMe	rs727504392
SNPshot	rs727504392
SNPdbe	rs727504392
MSV3d	rs727504392
GWAS Ctlg	rs727504392

Max Magnitude

6.2

ClinVar
Risk	rs727504392(T;T)
Alt	rs727504392(T;T)
Reference	Rs727504392(C;C)
Significance	Probable-Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy not specified
Variation	info
Gene	PRKAG2
CLNDBN	Primary familial hypertrophic cardiomyopathy not specified
Reversed	1
HGVS	NC_000007.13:g.151269771G>A
CLNSRC
CLNACC	RCV000154556.2, RCV000223800.1,