rs1057516328

Orientation

plus

Stabilized

plus

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

Make rs1057516328(A;A)

Make rs1057516328(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80116992

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516328
dbSNP (classic)	rs1057516328
ClinGen	rs1057516328
ebi	rs1057516328
HLI	rs1057516328
Exac	rs1057516328
Gnomad	rs1057516328
Varsome	rs1057516328
LitVar	rs1057516328
Map	rs1057516328
PheGenI	rs1057516328
Biobank	rs1057516328
1000 genomes	rs1057516328
hgdp	rs1057516328
ensembl	rs1057516328
geneview	rs1057516328
scholar	rs1057516328
google	rs1057516328
pharmgkb	rs1057516328
gwascentral	rs1057516328
openSNP	rs1057516328
23andMe	rs1057516328
SNPshot	rs1057516328
SNPdbe	rs1057516328
MSV3d	rs1057516328
GWAS Ctlg	rs1057516328

Max Magnitude

0

ClinVar
Risk	rs1057516328(A;A)
Alt	rs1057516328(A;A)
Reference	Rs1057516328(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78090791G>A
CLNSRC
CLNACC	RCV000409827.1,