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rs28928874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28928874(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position170998299
GeneSLC2A2
is asnp
is mentioned by
dbSNPrs28928874
ebirs28928874
HLIrs28928874
Exacrs28928874
Varsomers28928874
Maprs28928874
PheGenIrs28928874
hapmaprs28928874
1000 genomesrs28928874
hgdprs28928874
ensemblrs28928874
gopubmedrs28928874
geneviewrs28928874
scholarrs28928874
googlers28928874
pharmgkbrs28928874
gwascentralrs28928874
openSNPrs28928874
23andMers28928874
23andMe allrs28928874
SNP Nexus

SNPshotrs28928874
SNPdbers28928874
MSV3drs28928874
GWAS Ctlgrs28928874
Max Magnitude0
OMIM138160
DescFANCONI-BICKEL SYNDROME
Variant0012
Relatedalso


ClinVar
Risk rs28928874(A;A)
Alt rs28928874(A;A)
Reference rs28928874(T;T)
Significance Pathogenic
Disease Fanconi-Bickel syndrome
Variation info
Gene SLC2A2
CLNDBN Fanconi-Bickel syndrome
Reversed 1
HGVS NC_000003.11:g.170716088A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017481.28,