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rs121909743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909743(C;T)
Make rs121909743(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position171005347
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909743
ebirs121909743
HLIrs121909743
Exacrs121909743
Varsomers121909743
Maprs121909743
PheGenIrs121909743
hapmaprs121909743
1000 genomesrs121909743
hgdprs121909743
ensemblrs121909743
gopubmedrs121909743
geneviewrs121909743
scholarrs121909743
googlers121909743
pharmgkbrs121909743
gwascentralrs121909743
openSNPrs121909743
23andMers121909743
23andMe allrs121909743
SNP Nexus

SNPshotrs121909743
SNPdbers121909743
MSV3drs121909743
GWAS Ctlgrs121909743
Max Magnitude0
OMIM138160
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909743(T;T)
Alt rs121909743(T;T)
Reference rs121909743(C;C)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170723136G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017473.28,