rs1057516520

Orientation

plus

Stabilized

plus

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

Make rs1057516520(A;T)

Make rs1057516520(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108528

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516520
dbSNP (classic)	rs1057516520
ClinGen	rs1057516520
ebi	rs1057516520
HLI	rs1057516520
Exac	rs1057516520
Gnomad	rs1057516520
Varsome	rs1057516520
LitVar	rs1057516520
Map	rs1057516520
PheGenI	rs1057516520
Biobank	rs1057516520
1000 genomes	rs1057516520
hgdp	rs1057516520
ensembl	rs1057516520
geneview	rs1057516520
scholar	rs1057516520
google	rs1057516520
pharmgkb	rs1057516520
gwascentral	rs1057516520
openSNP	rs1057516520
23andMe	rs1057516520
SNPshot	rs1057516520
SNPdbe	rs1057516520
MSV3d	rs1057516520
GWAS Ctlg	rs1057516520

Max Magnitude

0

ClinVar
Risk	rs1057516520(T;T)
Alt	rs1057516520(T;T)
Reference	Rs1057516520(A;A)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78082327A>T
CLNSRC
CLNACC	RCV000411518.1,