rs1057516251

Orientation

plus

Stabilized

plus

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

Make rs1057516251(C;T)

Make rs1057516251(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80104755

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516251
dbSNP (classic)	rs1057516251
ClinGen	rs1057516251
ebi	rs1057516251
HLI	rs1057516251
Exac	rs1057516251
Gnomad	rs1057516251
Varsome	rs1057516251
LitVar	rs1057516251
Map	rs1057516251
PheGenI	rs1057516251
Biobank	rs1057516251
1000 genomes	rs1057516251
hgdp	rs1057516251
ensembl	rs1057516251
geneview	rs1057516251
scholar	rs1057516251
google	rs1057516251
pharmgkb	rs1057516251
gwascentral	rs1057516251
openSNP	rs1057516251
23andMe	rs1057516251
SNPshot	rs1057516251
SNPdbe	rs1057516251
MSV3d	rs1057516251
GWAS Ctlg	rs1057516251

Max Magnitude

0

ClinVar
Risk	rs1057516251(T;T)
Alt	rs1057516251(T;T)
Reference	Rs1057516251(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.78078554C>T
CLNSRC
CLNACC	RCV000412122.1,