rs201185475

Orientation

plus

Stabilized

plus

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

Make rs201185475(C;T)

Make rs201185475(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80104758

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs201185475
dbSNP (classic)	rs201185475
ClinGen	rs201185475
ebi	rs201185475
HLI	rs201185475
Exac	rs201185475
Gnomad	rs201185475
Varsome	rs201185475
LitVar	rs201185475
Map	rs201185475
PheGenI	rs201185475
Biobank	rs201185475
1000 genomes	rs201185475
hgdp	rs201185475
ensembl	rs201185475
geneview	rs201185475
scholar	rs201185475
google	rs201185475
pharmgkb	rs201185475
gwascentral	rs201185475
openSNP	rs201185475
23andMe	rs201185475
SNPshot	rs201185475
SNPdbe	rs201185475
MSV3d	rs201185475
GWAS Ctlg	rs201185475

Max Magnitude

0

ClinVar
Risk	rs201185475(T;T)
Alt	rs201185475(T;T)
Reference	Rs201185475(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.78078557C>T
CLNSRC
CLNACC	RCV000169263.1,