rs1057516363

Orientation

plus

Stabilized

plus

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

Make rs1057516363(G;T)

Make rs1057516363(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117020

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516363
dbSNP (classic)	rs1057516363
ClinGen	rs1057516363
ebi	rs1057516363
HLI	rs1057516363
Exac	rs1057516363
Gnomad	rs1057516363
Varsome	rs1057516363
LitVar	rs1057516363
Map	rs1057516363
PheGenI	rs1057516363
Biobank	rs1057516363
1000 genomes	rs1057516363
hgdp	rs1057516363
ensembl	rs1057516363
geneview	rs1057516363
scholar	rs1057516363
google	rs1057516363
pharmgkb	rs1057516363
gwascentral	rs1057516363
openSNP	rs1057516363
23andMe	rs1057516363
SNPshot	rs1057516363
SNPdbe	rs1057516363
MSV3d	rs1057516363
GWAS Ctlg	rs1057516363

Max Magnitude

0

ClinVar
Risk	rs1057516363(T;T)
Alt	rs1057516363(T;T)
Reference	Rs1057516363(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.78090819G>T
CLNSRC
CLNACC	RCV000411214.1,