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rs113994130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994130(C;T)
Make rs113994130(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99884612
GeneAGL
is asnp
is mentioned by
dbSNPrs113994130
ebirs113994130
HLIrs113994130
Exacrs113994130
Varsomers113994130
Maprs113994130
PheGenIrs113994130
hapmaprs113994130
1000 genomesrs113994130
hgdprs113994130
ensemblrs113994130
gopubmedrs113994130
geneviewrs113994130
scholarrs113994130
googlers113994130
pharmgkbrs113994130
gwascentralrs113994130
openSNPrs113994130
23andMers113994130
23andMe allrs113994130
SNP Nexus

SNPshotrs113994130
SNPdbers113994130
MSV3drs113994130
GWAS Ctlgrs113994130
Max Magnitude0
ClinVar
Risk rs113994130(T;T)
Alt rs113994130(T;T)
Reference rs113994130(C;C)
Significance Pathogenic
Disease Glycogen storage disease type III
Variation info
Gene AGL
CLNDBN Glycogen storage disease type III
Reversed 0
HGVS NC_000001.10:g.100350168C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020376.2,


OMIM232400
Desc
Variant
Relatedalso