rs1057517381

Orientation

plus

Stabilized

plus

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

Make rs1057517381(-;-)

Make rs1057517381(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104979

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517381
dbSNP (classic)	rs1057517381
ClinGen	rs1057517381
ebi	rs1057517381
HLI	rs1057517381
Exac	rs1057517381
Gnomad	rs1057517381
Varsome	rs1057517381
LitVar	rs1057517381
Map	rs1057517381
PheGenI	rs1057517381
Biobank	rs1057517381
1000 genomes	rs1057517381
hgdp	rs1057517381
ensembl	rs1057517381
geneview	rs1057517381
scholar	rs1057517381
google	rs1057517381
pharmgkb	rs1057517381
gwascentral	rs1057517381
openSNP	rs1057517381
23andMe	rs1057517381
SNPshot	rs1057517381
SNPdbe	rs1057517381
MSV3d	rs1057517381
GWAS Ctlg	rs1057517381

Max Magnitude

0

ClinVar
Risk	rs1057517381(-;-)
Alt	rs1057517381(-;-)
Reference	Rs1057517381(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78078778delC
CLNSRC
CLNACC	RCV000411224.1,