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rs113994133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994133(A;G)
Make rs113994133(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position99916587
GeneAGL, LOC101930120
is asnp
is mentioned by
dbSNPrs113994133
ebirs113994133
HLIrs113994133
Exacrs113994133
Varsomers113994133
Maprs113994133
PheGenIrs113994133
hapmaprs113994133
1000 genomesrs113994133
hgdprs113994133
ensemblrs113994133
gopubmedrs113994133
geneviewrs113994133
scholarrs113994133
googlers113994133
pharmgkbrs113994133
gwascentralrs113994133
openSNPrs113994133
23andMers113994133
23andMe allrs113994133
SNP Nexus

SNPshotrs113994133
SNPdbers113994133
MSV3drs113994133
GWAS Ctlgrs113994133
Max Magnitude0
OMIM610860
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994133(G;G)
Alt rs113994133(G;G)
Reference rs113994133(A;A)
Significance Pathogenic
Disease Glycogen storage disease IIIb Glycogen storage disease IIIa Glycogen storage disease type III
Variation info
Gene LOC101930120 AGL
CLNDBN Glycogen storage disease IIIb Glycogen storage disease IIIa Glycogen storage disease type III
Reversed 0
HGVS NC_000001.11:g.99916398A>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000001157.2, RCV000001158.2, RCV000020379.1,