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rs121909746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909746(C;T)
Make rs121909746(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position171005389
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909746
ebirs121909746
HLIrs121909746
Exacrs121909746
Varsomers121909746
Maprs121909746
PheGenIrs121909746
hapmaprs121909746
1000 genomesrs121909746
hgdprs121909746
ensemblrs121909746
gopubmedrs121909746
geneviewrs121909746
scholarrs121909746
googlers121909746
pharmgkbrs121909746
gwascentralrs121909746
openSNPrs121909746
23andMers121909746
23andMe allrs121909746
SNP Nexus

SNPshotrs121909746
SNPdbers121909746
MSV3drs121909746
GWAS Ctlgrs121909746
Max Magnitude0
OMIM138160
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121909746(T;T)
Alt rs121909746(T;T)
Reference rs121909746(C;C)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170723178G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017483.29,