rs1057517146

Orientation

plus

Stabilized

plus

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

Make rs1057517146(C;G)

Make rs1057517146(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80110953

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517146
dbSNP (classic)	rs1057517146
ClinGen	rs1057517146
ebi	rs1057517146
HLI	rs1057517146
Exac	rs1057517146
Gnomad	rs1057517146
Varsome	rs1057517146
LitVar	rs1057517146
Map	rs1057517146
PheGenI	rs1057517146
Biobank	rs1057517146
1000 genomes	rs1057517146
hgdp	rs1057517146
ensembl	rs1057517146
geneview	rs1057517146
scholar	rs1057517146
google	rs1057517146
pharmgkb	rs1057517146
gwascentral	rs1057517146
openSNP	rs1057517146
23andMe	rs1057517146
SNPshot	rs1057517146
SNPdbe	rs1057517146
MSV3d	rs1057517146
GWAS Ctlg	rs1057517146

Max Magnitude

0

ClinVar
Risk	rs1057517146(G;G)
Alt	rs1057517146(G;G)
Reference	Rs1057517146(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78084752C>G
CLNSRC
CLNACC	RCV000410150.1,