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rs113994127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs113994127(-;-)
Make rs113994127(-;AG)
ReferenceGRCh38 38.1/141
Chromosome1
Position99851059
GeneAGL
is asnp
is mentioned by
dbSNPrs113994127
ebirs113994127
HLIrs113994127
Exacrs113994127
Varsomers113994127
Maprs113994127
PheGenIrs113994127
hapmaprs113994127
1000 genomesrs113994127
hgdprs113994127
ensemblrs113994127
gopubmedrs113994127
geneviewrs113994127
scholarrs113994127
googlers113994127
pharmgkbrs113994127
gwascentralrs113994127
openSNPrs113994127
23andMers113994127
23andMe allrs113994127
SNP Nexus

SNPshotrs113994127
SNPdbers113994127
MSV3drs113994127
GWAS Ctlgrs113994127
Max Magnitude0
OMIM610860
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994127(;)
Alt rs113994127(;)
Reference rs113994127(AG;AG)
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.100316616_100316617delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001155.3, RCV000175637.2,