rs549029029

Orientation

plus

Stabilized

plus

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

Make rs549029029(A;A)

Make rs549029029(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

80112666

Gene

GAA

is a	snp
is	mentioned by
dbSNP	rs549029029
dbSNP (classic)	rs549029029
ClinGen	rs549029029
ebi	rs549029029
HLI	rs549029029
Exac	rs549029029
Gnomad	rs549029029
Varsome	rs549029029
LitVar	rs549029029
Map	rs549029029
PheGenI	rs549029029
Biobank	rs549029029
1000 genomes	rs549029029
hgdp	rs549029029
ensembl	rs549029029
geneview	rs549029029
scholar	rs549029029
google	rs549029029
pharmgkb	rs549029029
gwascentral	rs549029029
openSNP	rs549029029
23andMe	rs549029029
SNPshot	rs549029029
SNPdbe	rs549029029
MSV3d	rs549029029
GWAS Ctlg	rs549029029

Max Magnitude

0

ClinVar
Risk	rs549029029(A;A)
Alt	rs549029029(A;A)
Reference	Rs549029029(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.78086465G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169115.1,