rs786204645

Orientation

plus

Stabilized

plus

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

Make rs786204645(C;T)

Make rs786204645(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

80113281

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs786204645
dbSNP (classic)	rs786204645
ClinGen	rs786204645
ebi	rs786204645
HLI	rs786204645
Exac	rs786204645
Gnomad	rs786204645
Varsome	rs786204645
LitVar	rs786204645
Map	rs786204645
PheGenI	rs786204645
Biobank	rs786204645
1000 genomes	rs786204645
hgdp	rs786204645
ensembl	rs786204645
geneview	rs786204645
scholar	rs786204645
google	rs786204645
pharmgkb	rs786204645
gwascentral	rs786204645
openSNP	rs786204645
23andMe	rs786204645
SNPshot	rs786204645
SNPdbe	rs786204645
MSV3d	rs786204645
GWAS Ctlg	rs786204645

Max Magnitude

0

ClinVar
Risk	rs786204645(T;T)
Alt	rs786204645(T;T)
Reference	Rs786204645(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.78087080C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169431.1,