rs1057516341

Orientation

plus

Stabilized

plus

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

Make rs1057516341(C;T)

Make rs1057516341(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80118710

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516341
dbSNP (classic)	rs1057516341
ClinGen	rs1057516341
ebi	rs1057516341
HLI	rs1057516341
Exac	rs1057516341
Gnomad	rs1057516341
Varsome	rs1057516341
LitVar	rs1057516341
Map	rs1057516341
PheGenI	rs1057516341
Biobank	rs1057516341
1000 genomes	rs1057516341
hgdp	rs1057516341
ensembl	rs1057516341
geneview	rs1057516341
scholar	rs1057516341
google	rs1057516341
pharmgkb	rs1057516341
gwascentral	rs1057516341
openSNP	rs1057516341
23andMe	rs1057516341
SNPshot	rs1057516341
SNPdbe	rs1057516341
MSV3d	rs1057516341
GWAS Ctlg	rs1057516341

Max Magnitude

0

ClinVar
Risk	rs1057516341(T;T)
Alt	rs1057516341(T;T)
Reference	Rs1057516341(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.78092509C>T
CLNSRC
CLNACC	RCV000411086.1,