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rs121909744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909744(C;T)
Make rs121909744(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position170998317
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909744
ebirs121909744
HLIrs121909744
Exacrs121909744
Varsomers121909744
Maprs121909744
PheGenIrs121909744
hapmaprs121909744
1000 genomesrs121909744
hgdprs121909744
ensemblrs121909744
gopubmedrs121909744
geneviewrs121909744
scholarrs121909744
googlers121909744
pharmgkbrs121909744
gwascentralrs121909744
openSNPrs121909744
23andMers121909744
23andMe allrs121909744
SNP Nexus

SNPshotrs121909744
SNPdbers121909744
MSV3drs121909744
GWAS Ctlgrs121909744
Max Magnitude0
OMIM138160
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909744(T;T)
Alt rs121909744(T;T)
Reference rs121909744(C;C)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170716106G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017475.24,