rs1057517267

Orientation

plus

Stabilized

plus

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

Make rs1057517267(-;-)

Make rs1057517267(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80110956

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517267
dbSNP (classic)	rs1057517267
ClinGen	rs1057517267
ebi	rs1057517267
HLI	rs1057517267
Exac	rs1057517267
Gnomad	rs1057517267
Varsome	rs1057517267
LitVar	rs1057517267
Map	rs1057517267
PheGenI	rs1057517267
Biobank	rs1057517267
1000 genomes	rs1057517267
hgdp	rs1057517267
ensembl	rs1057517267
geneview	rs1057517267
scholar	rs1057517267
google	rs1057517267
pharmgkb	rs1057517267
gwascentral	rs1057517267
openSNP	rs1057517267
23andMe	rs1057517267
SNPshot	rs1057517267
SNPdbe	rs1057517267
MSV3d	rs1057517267
GWAS Ctlg	rs1057517267

Max Magnitude

0

ClinVar
Risk	rs1057517267(-;-)
Alt	rs1057517267(-;-)
Reference	Rs1057517267(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.78084755delT
CLNSRC
CLNACC	RCV000411045.1,