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rs113994134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994134(-;-)
Make rs113994134(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99916705
GeneAGL
is asnp
is mentioned by
dbSNPrs113994134
dbSNP (classic)rs113994134
ClinGenrs113994134
ebirs113994134
HLIrs113994134
Exacrs113994134
Gnomadrs113994134
Varsomers113994134
LitVarrs113994134
Maprs113994134
PheGenIrs113994134
Biobankrs113994134
1000 genomesrs113994134
hgdprs113994134
ensemblrs113994134
geneviewrs113994134
scholarrs113994134
googlers113994134
pharmgkbrs113994134
gwascentralrs113994134
openSNPrs113994134
23andMers113994134
SNPshotrs113994134
SNPdbers113994134
MSV3drs113994134
GWAS Ctlgrs113994134
Merged fromRs387906245
Max Magnitude0
ClinVar
Risk rs113994134(-;-)
Alt rs113994134(-;-)
Reference Rs113994134(T;T)
Significance Pathogenic
Disease Glycogen storage disease IIIa Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease IIIa Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100382262delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001156.3, RCV000177731.2,


OMIM232400
Desc
Variant
Relatedalso