rs1057516785

Orientation

plus

Stabilized

plus

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

Make rs1057516785(-;-)

Make rs1057516785(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108512

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516785
dbSNP (classic)	rs1057516785
ClinGen	rs1057516785
ebi	rs1057516785
HLI	rs1057516785
Exac	rs1057516785
Gnomad	rs1057516785
Varsome	rs1057516785
LitVar	rs1057516785
Map	rs1057516785
PheGenI	rs1057516785
Biobank	rs1057516785
1000 genomes	rs1057516785
hgdp	rs1057516785
ensembl	rs1057516785
geneview	rs1057516785
scholar	rs1057516785
google	rs1057516785
pharmgkb	rs1057516785
gwascentral	rs1057516785
openSNP	rs1057516785
23andMe	rs1057516785
SNPshot	rs1057516785
SNPdbe	rs1057516785
MSV3d	rs1057516785
GWAS Ctlg	rs1057516785

Max Magnitude

0

ClinVar
Risk	rs1057516785(-;-)
Alt	rs1057516785(-;-)
Reference	Rs1057516785(T;T)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78082311delT
CLNSRC
CLNACC	RCV000410443.1,