rs1057516928

Orientation

plus

Stabilized

plus

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

Make rs1057516928(G;T)

Make rs1057516928(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80113028

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516928
dbSNP (classic)	rs1057516928
ClinGen	rs1057516928
ebi	rs1057516928
HLI	rs1057516928
Exac	rs1057516928
Gnomad	rs1057516928
Varsome	rs1057516928
LitVar	rs1057516928
Map	rs1057516928
PheGenI	rs1057516928
Biobank	rs1057516928
1000 genomes	rs1057516928
hgdp	rs1057516928
ensembl	rs1057516928
geneview	rs1057516928
scholar	rs1057516928
google	rs1057516928
pharmgkb	rs1057516928
gwascentral	rs1057516928
openSNP	rs1057516928
23andMe	rs1057516928
SNPshot	rs1057516928
SNPdbe	rs1057516928
MSV3d	rs1057516928
GWAS Ctlg	rs1057516928

Max Magnitude

0

ClinVar
Risk	rs1057516928(T;T)
Alt	rs1057516928(T;T)
Reference	Rs1057516928(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.78086827G>T
CLNSRC
CLNACC	RCV000410649.1,