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rs118204428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hereditary fructose intolerance mutation
Make rs118204428(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position101430878
GeneALDOB
is asnp
is mentioned by
dbSNPrs118204428
dbSNP (classic)rs118204428
ClinGenrs118204428
ebirs118204428
HLIrs118204428
Exacrs118204428
Gnomadrs118204428
Varsomers118204428
LitVarrs118204428
Maprs118204428
PheGenIrs118204428
Biobankrs118204428
1000 genomesrs118204428
hgdprs118204428
ensemblrs118204428
geneviewrs118204428
scholarrs118204428
googlers118204428
pharmgkbrs118204428
gwascentralrs118204428
openSNPrs118204428
23andMers118204428
SNPshotrs118204428
SNPdbers118204428
MSV3drs118204428
GWAS Ctlgrs118204428
Max Magnitude3
OMIM612724
Desc
Variant0008
Relatedalso
ClinVar
Risk rs118204428(T;T)
Alt rs118204428(T;T)
Reference Rs118204428(C;C)
Significance Other
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104193160G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000500.4,