rs1057516426

Orientation

plus

Stabilized

plus

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

Make rs1057516426(C;T)

Make rs1057516426(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80112033

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516426
dbSNP (classic)	rs1057516426
ClinGen	rs1057516426
ebi	rs1057516426
HLI	rs1057516426
Exac	rs1057516426
Gnomad	rs1057516426
Varsome	rs1057516426
LitVar	rs1057516426
Map	rs1057516426
PheGenI	rs1057516426
Biobank	rs1057516426
1000 genomes	rs1057516426
hgdp	rs1057516426
ensembl	rs1057516426
geneview	rs1057516426
scholar	rs1057516426
google	rs1057516426
pharmgkb	rs1057516426
gwascentral	rs1057516426
openSNP	rs1057516426
23andMe	rs1057516426
SNPshot	rs1057516426
SNPdbe	rs1057516426
MSV3d	rs1057516426
GWAS Ctlg	rs1057516426

Max Magnitude

0

ClinVar
Risk	rs1057516426(T;T)
Alt	rs1057516426(T;T)
Reference	Rs1057516426(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.78085832C>T
CLNSRC
CLNACC	RCV000411330.1,