rs772883420

Orientation

plus

Stabilized

plus

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

Make rs772883420(C;C)

Make rs772883420(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

80110730

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs772883420
dbSNP (classic)	rs772883420
ClinGen	rs772883420
ebi	rs772883420
HLI	rs772883420
Exac	rs772883420
Gnomad	rs772883420
Varsome	rs772883420
LitVar	rs772883420
Map	rs772883420
PheGenI	rs772883420
Biobank	rs772883420
1000 genomes	rs772883420
hgdp	rs772883420
ensembl	rs772883420
geneview	rs772883420
scholar	rs772883420
google	rs772883420
pharmgkb	rs772883420
gwascentral	rs772883420
openSNP	rs772883420
23andMe	rs772883420
SNPshot	rs772883420
SNPdbe	rs772883420
MSV3d	rs772883420
GWAS Ctlg	rs772883420

Max Magnitude

0

ClinVar
Risk	rs772883420(C;C)
Alt	rs772883420(C;C)
Reference	Rs772883420(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.78084529T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169391.1,