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rs113994128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994128(C;T)
Make rs113994128(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position99875394
GeneAGL
is asnp
is mentioned by
dbSNPrs113994128
ebirs113994128
HLIrs113994128
Exacrs113994128
Varsomers113994128
Maprs113994128
PheGenIrs113994128
hapmaprs113994128
1000 genomesrs113994128
hgdprs113994128
ensemblrs113994128
gopubmedrs113994128
geneviewrs113994128
scholarrs113994128
googlers113994128
pharmgkbrs113994128
gwascentralrs113994128
openSNPrs113994128
23andMers113994128
23andMe allrs113994128
SNP Nexus

SNPshotrs113994128
SNPdbers113994128
MSV3drs113994128
GWAS Ctlgrs113994128
Max Magnitude0
OMIM610860
Desc
Variant0013
Relatedalso
ClinVar
Risk rs113994128(T;T)
Alt rs113994128(T;T)
Reference rs113994128(C;C)
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.100340950C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001165.3, RCV000020372.1,