rs1057516649

Orientation

plus

Stabilized

plus

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

Make rs1057516649(-;-)

Make rs1057516649(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80117020

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516649
dbSNP (classic)	rs1057516649
ClinGen	rs1057516649
ebi	rs1057516649
HLI	rs1057516649
Exac	rs1057516649
Gnomad	rs1057516649
Varsome	rs1057516649
LitVar	rs1057516649
Map	rs1057516649
PheGenI	rs1057516649
Biobank	rs1057516649
1000 genomes	rs1057516649
hgdp	rs1057516649
ensembl	rs1057516649
geneview	rs1057516649
scholar	rs1057516649
google	rs1057516649
pharmgkb	rs1057516649
gwascentral	rs1057516649
openSNP	rs1057516649
23andMe	rs1057516649
SNPshot	rs1057516649
SNPdbe	rs1057516649
MSV3d	rs1057516649
GWAS Ctlg	rs1057516649

Max Magnitude

0

ClinVar
Risk	rs1057516649(-;-)
Alt	rs1057516649(-;-)
Reference	Rs1057516649(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.78090819delG
CLNSRC
CLNACC	RCV000409225.1,