rs1057516704

Orientation

plus

Stabilized

plus

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

Make rs1057516704(-;-)

Make rs1057516704(-;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80118206

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516704
dbSNP (classic)	rs1057516704
ClinGen	rs1057516704
ebi	rs1057516704
HLI	rs1057516704
Exac	rs1057516704
Gnomad	rs1057516704
Varsome	rs1057516704
LitVar	rs1057516704
Map	rs1057516704
PheGenI	rs1057516704
Biobank	rs1057516704
1000 genomes	rs1057516704
hgdp	rs1057516704
ensembl	rs1057516704
geneview	rs1057516704
scholar	rs1057516704
google	rs1057516704
pharmgkb	rs1057516704
gwascentral	rs1057516704
openSNP	rs1057516704
23andMe	rs1057516704
SNPshot	rs1057516704
SNPdbe	rs1057516704
MSV3d	rs1057516704
GWAS Ctlg	rs1057516704

Max Magnitude

0

ClinVar
Risk	rs1057516704(-;-)
Alt	rs1057516704(-;-)
Reference	Rs1057516704(CA;CA)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78092005_78092006delCA
CLNSRC
CLNACC	RCV000410078.1,