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rs113994132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113994132(-;-)
Make rs113994132(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99913542
GeneAGL
is asnp
is mentioned by
dbSNPrs113994132
dbSNP (classic)rs113994132
ClinGenrs113994132
ebirs113994132
HLIrs113994132
Exacrs113994132
Gnomadrs113994132
Varsomers113994132
LitVarrs113994132
Maprs113994132
PheGenIrs113994132
Biobankrs113994132
1000 genomesrs113994132
hgdprs113994132
ensemblrs113994132
geneviewrs113994132
scholarrs113994132
googlers113994132
pharmgkbrs113994132
gwascentralrs113994132
openSNPrs113994132
23andMers113994132
SNPshotrs113994132
SNPdbers113994132
MSV3drs113994132
GWAS Ctlgrs113994132
Max Magnitude0
ClinVar
Risk rs113994132(-;-)
Alt rs113994132(-;-)
Reference Rs113994132(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.100379098delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001162.3, RCV000020378.2,


OMIM232400
Desc
Variant
Relatedalso