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rs121909742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909742(C;T)
Make rs121909742(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position170999142
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909742
ebirs121909742
HLIrs121909742
Exacrs121909742
Varsomers121909742
Maprs121909742
PheGenIrs121909742
hapmaprs121909742
1000 genomesrs121909742
hgdprs121909742
ensemblrs121909742
gopubmedrs121909742
geneviewrs121909742
scholarrs121909742
googlers121909742
pharmgkbrs121909742
gwascentralrs121909742
openSNPrs121909742
23andMers121909742
23andMe allrs121909742
SNP Nexus

SNPshotrs121909742
SNPdbers121909742
MSV3drs121909742
GWAS Ctlgrs121909742
Max Magnitude0
OMIM138160
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909742(A,T;A,T)
Alt rs121909742(A,T;A,T)
Reference rs121909742(C;C)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170716931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017472.28,