rs1057517417

Orientation

plus

Stabilized

plus

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

Make rs1057517417(A;A)

Make rs1057517417(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104552

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057517417
dbSNP (classic)	rs1057517417
ClinGen	rs1057517417
ebi	rs1057517417
HLI	rs1057517417
Exac	rs1057517417
Gnomad	rs1057517417
Varsome	rs1057517417
LitVar	rs1057517417
Map	rs1057517417
PheGenI	rs1057517417
Biobank	rs1057517417
1000 genomes	rs1057517417
hgdp	rs1057517417
ensembl	rs1057517417
geneview	rs1057517417
scholar	rs1057517417
google	rs1057517417
pharmgkb	rs1057517417
gwascentral	rs1057517417
openSNP	rs1057517417
23andMe	rs1057517417
SNPshot	rs1057517417
SNPdbe	rs1057517417
MSV3d	rs1057517417
GWAS Ctlg	rs1057517417

Max Magnitude

0

ClinVar
Risk	rs1057517417(A;A)
Alt	rs1057517417(A;A)
Reference	Rs1057517417(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.78078351C>A
CLNSRC
CLNACC	RCV000412452.1,