rs1057516327

Orientation

plus

Stabilized

plus

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

Make rs1057516327(A;A)

Make rs1057516327(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80116991

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516327
dbSNP (classic)	rs1057516327
ClinGen	rs1057516327
ebi	rs1057516327
HLI	rs1057516327
Exac	rs1057516327
Gnomad	rs1057516327
Varsome	rs1057516327
LitVar	rs1057516327
Map	rs1057516327
PheGenI	rs1057516327
Biobank	rs1057516327
1000 genomes	rs1057516327
hgdp	rs1057516327
ensembl	rs1057516327
geneview	rs1057516327
scholar	rs1057516327
google	rs1057516327
pharmgkb	rs1057516327
gwascentral	rs1057516327
openSNP	rs1057516327
23andMe	rs1057516327
SNPshot	rs1057516327
SNPdbe	rs1057516327
MSV3d	rs1057516327
GWAS Ctlg	rs1057516327

Max Magnitude

0

ClinVar
Risk	rs1057516327(A;A)
Alt	rs1057516327(A;A)
Reference	Rs1057516327(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.78090790G>A
CLNSRC
CLNACC	RCV000411759.1,