rs1057517286

Orientation

plus

Stabilized

plus

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

Make rs1057517286(-;-)

Make rs1057517286(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108606

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517286
dbSNP (classic)	rs1057517286
ClinGen	rs1057517286
ebi	rs1057517286
HLI	rs1057517286
Exac	rs1057517286
Gnomad	rs1057517286
Varsome	rs1057517286
LitVar	rs1057517286
Map	rs1057517286
PheGenI	rs1057517286
Biobank	rs1057517286
1000 genomes	rs1057517286
hgdp	rs1057517286
ensembl	rs1057517286
geneview	rs1057517286
scholar	rs1057517286
google	rs1057517286
pharmgkb	rs1057517286
gwascentral	rs1057517286
openSNP	rs1057517286
23andMe	rs1057517286
SNPshot	rs1057517286
SNPdbe	rs1057517286
MSV3d	rs1057517286
GWAS Ctlg	rs1057517286

Max Magnitude

0

ClinVar
Risk	rs1057517286(-;-)
Alt	rs1057517286(-;-)
Reference	Rs1057517286(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.78082405delT
CLNSRC
CLNACC	RCV000410060.1,