rs1057516546

Orientation

plus

Stabilized

plus

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

Make rs1057516546(-;C)

Make rs1057516546(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80108605

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs1057516546
dbSNP (classic)	rs1057516546
ClinGen	rs1057516546
ebi	rs1057516546
HLI	rs1057516546
Exac	rs1057516546
Gnomad	rs1057516546
Varsome	rs1057516546
LitVar	rs1057516546
Map	rs1057516546
PheGenI	rs1057516546
Biobank	rs1057516546
1000 genomes	rs1057516546
hgdp	rs1057516546
ensembl	rs1057516546
geneview	rs1057516546
scholar	rs1057516546
google	rs1057516546
pharmgkb	rs1057516546
gwascentral	rs1057516546
openSNP	rs1057516546
23andMe	rs1057516546
SNPshot	rs1057516546
SNPdbe	rs1057516546
MSV3d	rs1057516546
GWAS Ctlg	rs1057516546

Max Magnitude

0

ClinVar
Risk	rs1057516546(C;C)
Alt	rs1057516546(C;C)
Reference	Rs1057516546(-;-)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78082404dupC
CLNSRC
CLNACC	RCV000411138.1,