rs786204517

Orientation

plus

Stabilized

plus

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

Make rs786204517(C;T)

Make rs786204517(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

80108569

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs786204517
dbSNP (classic)	rs786204517
ClinGen	rs786204517
ebi	rs786204517
HLI	rs786204517
Exac	rs786204517
Gnomad	rs786204517
Varsome	rs786204517
LitVar	rs786204517
Map	rs786204517
PheGenI	rs786204517
Biobank	rs786204517
1000 genomes	rs786204517
hgdp	rs786204517
ensembl	rs786204517
geneview	rs786204517
scholar	rs786204517
google	rs786204517
pharmgkb	rs786204517
gwascentral	rs786204517
openSNP	rs786204517
23andMe	rs786204517
SNPshot	rs786204517
SNPdbe	rs786204517
MSV3d	rs786204517
GWAS Ctlg	rs786204517

Max Magnitude

0

ClinVar
Risk	rs786204517(T;T)
Alt	rs786204517(T;T)
Reference	Rs786204517(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.78082368C>T
CLNSRC
CLNACC	RCV000169210.1,