rs786204720

Orientation

plus

Stabilized

plus

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

Make rs786204720(C;C)

Make rs786204720(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

80110945

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs786204720
dbSNP (classic)	rs786204720
ClinGen	rs786204720
ebi	rs786204720
HLI	rs786204720
Exac	rs786204720
Gnomad	rs786204720
Varsome	rs786204720
LitVar	rs786204720
Map	rs786204720
PheGenI	rs786204720
Biobank	rs786204720
1000 genomes	rs786204720
hgdp	rs786204720
ensembl	rs786204720
geneview	rs786204720
scholar	rs786204720
google	rs786204720
pharmgkb	rs786204720
gwascentral	rs786204720
openSNP	rs786204720
23andMe	rs786204720
SNPshot	rs786204720
SNPdbe	rs786204720
MSV3d	rs786204720
GWAS Ctlg	rs786204720

Max Magnitude

0

ClinVar
Risk	rs786204720(C;C)
Alt	rs786204720(C;C)
Reference	Rs786204720(T;T)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	GAA
CLNDBN	Glycogen storage disease, type II
Reversed	0
HGVS	NC_000017.10:g.78084744T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169538.1,