rs138130157

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs138130157(A;A)

Make rs138130157(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

218828561

Gene

PRKAG3

is a	snp
is	mentioned by
dbSNP	rs138130157
dbSNP (classic)	rs138130157
ClinGen	rs138130157
ebi	rs138130157
HLI	rs138130157
Exac	rs138130157
Gnomad	rs138130157
Varsome	rs138130157
LitVar	rs138130157
Map	rs138130157
PheGenI	rs138130157
Biobank	rs138130157
1000 genomes	rs138130157
hgdp	rs138130157
ensembl	rs138130157
geneview	rs138130157
scholar	rs138130157
google	rs138130157
pharmgkb	rs138130157
gwascentral	rs138130157
openSNP	rs138130157
23andMe	rs138130157
SNPshot	rs138130157
SNPdbe	rs138130157
MSV3d	rs138130157
GWAS Ctlg	rs138130157

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs138130157(A;A)
Alt	rs138130157(A;A)
Reference	Rs138130157(G;G)
Significance	Pathogenic
Disease	Glycogen content in skeletal muscle
Variation	info
Gene	PRKAG3
CLNDBN	Glycogen content in skeletal muscle, increased
Reversed	0
HGVS	NC_000002.11:g.219693284G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005602.3,