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rs113994129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994129(A;A)
Make rs113994129(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position99881329
GeneAGL
is asnp
is mentioned by
dbSNPrs113994129
ebirs113994129
HLIrs113994129
Exacrs113994129
Varsomers113994129
Maprs113994129
PheGenIrs113994129
hapmaprs113994129
1000 genomesrs113994129
hgdprs113994129
ensemblrs113994129
gopubmedrs113994129
geneviewrs113994129
scholarrs113994129
googlers113994129
pharmgkbrs113994129
gwascentralrs113994129
openSNPrs113994129
23andMers113994129
23andMe allrs113994129
SNP Nexus

SNPshotrs113994129
SNPdbers113994129
MSV3drs113994129
GWAS Ctlgrs113994129
Max Magnitude0
OMIM610860
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994129(A;A)
Alt rs113994129(A;A)
Reference rs113994129(G;G)
Significance Pathogenic
Disease Glycogen storage disease IIIb Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease IIIb Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100346885G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001154.3, RCV000020375.2,