rs1057517308

Orientation

plus

Stabilized

plus

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

Make rs1057517308(-;-)

Make rs1057517308(-;GT)

Make rs1057517308(GT;GT)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80119287

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517308
dbSNP (classic)	rs1057517308
ClinGen	rs1057517308
ebi	rs1057517308
HLI	rs1057517308
Exac	rs1057517308
Gnomad	rs1057517308
Varsome	rs1057517308
LitVar	rs1057517308
Map	rs1057517308
PheGenI	rs1057517308
Biobank	rs1057517308
1000 genomes	rs1057517308
hgdp	rs1057517308
ensembl	rs1057517308
geneview	rs1057517308
scholar	rs1057517308
google	rs1057517308
pharmgkb	rs1057517308
gwascentral	rs1057517308
openSNP	rs1057517308
23andMe	rs1057517308
SNPshot	rs1057517308
SNPdbe	rs1057517308
MSV3d	rs1057517308
GWAS Ctlg	rs1057517308

Max Magnitude

0

ClinVar
Risk	rs1057517308(-;-)
Alt	rs1057517308(-;-)
Reference	Rs1057517308(TG;TG)
Significance	Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78093086_78093087delGT
CLNSRC
CLNACC	RCV000411712.1,