rs1057516581

Orientation

plus

Stabilized

plus

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

Make rs1057516581(-;-)

Make rs1057516581(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80113362

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516581
dbSNP (classic)	rs1057516581
ClinGen	rs1057516581
ebi	rs1057516581
HLI	rs1057516581
Exac	rs1057516581
Gnomad	rs1057516581
Varsome	rs1057516581
LitVar	rs1057516581
Map	rs1057516581
PheGenI	rs1057516581
Biobank	rs1057516581
1000 genomes	rs1057516581
hgdp	rs1057516581
ensembl	rs1057516581
geneview	rs1057516581
scholar	rs1057516581
google	rs1057516581
pharmgkb	rs1057516581
gwascentral	rs1057516581
openSNP	rs1057516581
23andMe	rs1057516581
SNPshot	rs1057516581
SNPdbe	rs1057516581
MSV3d	rs1057516581
GWAS Ctlg	rs1057516581

Max Magnitude

0

ClinVar
Risk	rs1057516581(-;-)
Alt	rs1057516581(-;-)
Reference	Rs1057516581(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.78087161delC
CLNSRC
CLNACC	RCV000412465.1,