rs1057516290

Orientation

plus

Stabilized

plus

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

Make rs1057516290(A;G)

Make rs1057516290(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108487

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516290
dbSNP (classic)	rs1057516290
ClinGen	rs1057516290
ebi	rs1057516290
HLI	rs1057516290
Exac	rs1057516290
Gnomad	rs1057516290
Varsome	rs1057516290
LitVar	rs1057516290
Map	rs1057516290
PheGenI	rs1057516290
Biobank	rs1057516290
1000 genomes	rs1057516290
hgdp	rs1057516290
ensembl	rs1057516290
geneview	rs1057516290
scholar	rs1057516290
google	rs1057516290
pharmgkb	rs1057516290
gwascentral	rs1057516290
openSNP	rs1057516290
23andMe	rs1057516290
SNPshot	rs1057516290
SNPdbe	rs1057516290
MSV3d	rs1057516290
GWAS Ctlg	rs1057516290

Max Magnitude

0

ClinVar
Risk	rs1057516290(G;G)
Alt	rs1057516290(G;G)
Reference	Rs1057516290(A;A)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78082286A>G
CLNSRC
CLNACC	RCV000409982.1,