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rs121909745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909745(A;A)
Make rs121909745(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position170998308
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs121909745
dbSNP (classic)rs121909745
ClinGenrs121909745
ebirs121909745
HLIrs121909745
Exacrs121909745
Gnomadrs121909745
Varsomers121909745
LitVarrs121909745
Maprs121909745
PheGenIrs121909745
Biobankrs121909745
1000 genomesrs121909745
hgdprs121909745
ensemblrs121909745
geneviewrs121909745
scholarrs121909745
googlers121909745
pharmgkbrs121909745
gwascentralrs121909745
openSNPrs121909745
23andMers121909745
SNPshotrs121909745
SNPdbers121909745
MSV3drs121909745
GWAS Ctlgrs121909745
Max Magnitude0
OMIM138160
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909745(A;A)
Alt rs121909745(A;A)
Reference Rs121909745(G;G)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170716097C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017476.28,