rs201896815

Orientation

plus

Stabilized

plus

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

Make rs201896815(A;A)

Make rs201896815(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80107648

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs201896815
dbSNP (classic)	rs201896815
ClinGen	rs201896815
ebi	rs201896815
HLI	rs201896815
Exac	rs201896815
Gnomad	rs201896815
Varsome	rs201896815
LitVar	rs201896815
Map	rs201896815
PheGenI	rs201896815
Biobank	rs201896815
1000 genomes	rs201896815
hgdp	rs201896815
ensembl	rs201896815
geneview	rs201896815
scholar	rs201896815
google	rs201896815
pharmgkb	rs201896815
gwascentral	rs201896815
openSNP	rs201896815
23andMe	rs201896815
SNPshot	rs201896815
SNPdbe	rs201896815
MSV3d	rs201896815
GWAS Ctlg	rs201896815

Max Magnitude

0

ClinVar
Risk	rs201896815(A;A)
Alt	rs201896815(A;A)
Reference	Rs201896815(G;G)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78081447G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169139.1,