rs1057517105

Orientation

plus

Stabilized

plus

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

Make rs1057517105(A;A)

Make rs1057517105(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80112655

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517105
dbSNP (classic)	rs1057517105
ClinGen	rs1057517105
ebi	rs1057517105
HLI	rs1057517105
Exac	rs1057517105
Gnomad	rs1057517105
Varsome	rs1057517105
LitVar	rs1057517105
Map	rs1057517105
PheGenI	rs1057517105
Biobank	rs1057517105
1000 genomes	rs1057517105
hgdp	rs1057517105
ensembl	rs1057517105
geneview	rs1057517105
scholar	rs1057517105
google	rs1057517105
pharmgkb	rs1057517105
gwascentral	rs1057517105
openSNP	rs1057517105
23andMe	rs1057517105
SNPshot	rs1057517105
SNPdbe	rs1057517105
MSV3d	rs1057517105
GWAS Ctlg	rs1057517105

Max Magnitude

0

ClinVar
Risk	rs1057517105(A;A)
Alt	rs1057517105(A;A)
Reference	Rs1057517105(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.78086454G>A
CLNSRC
CLNACC	RCV000409030.1,