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rs113994126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994126(C;T)
Make rs113994126(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99851058
GeneAGL
is asnp
is mentioned by
dbSNPrs113994126
ebirs113994126
HLIrs113994126
Exacrs113994126
Varsomers113994126
Maprs113994126
PheGenIrs113994126
hapmaprs113994126
1000 genomesrs113994126
hgdprs113994126
ensemblrs113994126
gopubmedrs113994126
geneviewrs113994126
scholarrs113994126
googlers113994126
pharmgkbrs113994126
gwascentralrs113994126
openSNPrs113994126
23andMers113994126
23andMe allrs113994126
SNP Nexus

SNPshotrs113994126
SNPdbers113994126
MSV3drs113994126
GWAS Ctlgrs113994126
Max Magnitude0
OMIM610860
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994126(T;T)
Alt rs113994126(T;T)
Reference rs113994126(C;C)
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.100316614C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001153.3, RCV000020373.2,