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rs121909747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909747(C;C)
Make rs121909747(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position170999069
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909747
ebirs121909747
HLIrs121909747
Exacrs121909747
Varsomers121909747
Maprs121909747
PheGenIrs121909747
hapmaprs121909747
1000 genomesrs121909747
hgdprs121909747
ensemblrs121909747
gopubmedrs121909747
geneviewrs121909747
scholarrs121909747
googlers121909747
pharmgkbrs121909747
gwascentralrs121909747
openSNPrs121909747
23andMers121909747
23andMe allrs121909747
SNP Nexus

SNPshotrs121909747
SNPdbers121909747
MSV3drs121909747
GWAS Ctlgrs121909747
Max Magnitude0
OMIM138160
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909747(C,G;C,G)
Alt rs121909747(C,G;C,G)
Reference rs121909747(T;T)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170716858A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017484.29,