rs1057516503

Orientation

plus

Stabilized

plus

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

Make rs1057516503(-;-)

Make rs1057516503(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104867

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516503
dbSNP (classic)	rs1057516503
ClinGen	rs1057516503
ebi	rs1057516503
HLI	rs1057516503
Exac	rs1057516503
Gnomad	rs1057516503
Varsome	rs1057516503
LitVar	rs1057516503
Map	rs1057516503
PheGenI	rs1057516503
Biobank	rs1057516503
1000 genomes	rs1057516503
hgdp	rs1057516503
ensembl	rs1057516503
geneview	rs1057516503
scholar	rs1057516503
google	rs1057516503
pharmgkb	rs1057516503
gwascentral	rs1057516503
openSNP	rs1057516503
23andMe	rs1057516503
SNPshot	rs1057516503
SNPdbe	rs1057516503
MSV3d	rs1057516503
GWAS Ctlg	rs1057516503

Max Magnitude

0

ClinVar
Risk	rs1057516503(-;-)
Alt	rs1057516503(-;-)
Reference	Rs1057516503(CT;CT)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078666_78078667delCT
CLNSRC
CLNACC	RCV000411737.1,