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rs549029029

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs549029029(A;A)
Make rs549029029(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80112666
GeneGAA
is asnp
is mentioned by
dbSNPrs549029029
ebirs549029029
HLIrs549029029
Exacrs549029029
Varsomers549029029
Maprs549029029
PheGenIrs549029029
hapmaprs549029029
1000 genomesrs549029029
hgdprs549029029
ensemblrs549029029
gopubmedrs549029029
geneviewrs549029029
scholarrs549029029
googlers549029029
pharmgkbrs549029029
gwascentralrs549029029
openSNPrs549029029
23andMers549029029
23andMe allrs549029029
SNP Nexus

SNPshotrs549029029
SNPdbers549029029
MSV3drs549029029
GWAS Ctlgrs549029029
Max Magnitude0
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
CLNACC RCV000169115.1,