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rs118204430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a hereditary fructose intolerance mutation
(T;T) 0 common in clinvar


Make rs118204430(C;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position101427580
GeneALDOB
is asnp
is mentioned by
dbSNPrs118204430
dbSNP (classic)rs118204430
ClinGenrs118204430
ebirs118204430
HLIrs118204430
Exacrs118204430
Gnomadrs118204430
Varsomers118204430
LitVarrs118204430
Maprs118204430
PheGenIrs118204430
Biobankrs118204430
1000 genomesrs118204430
hgdprs118204430
ensemblrs118204430
geneviewrs118204430
scholarrs118204430
googlers118204430
pharmgkbrs118204430
gwascentralrs118204430
openSNPrs118204430
23andMers118204430
SNPshotrs118204430
SNPdbers118204430
MSV3drs118204430
GWAS Ctlgrs118204430
Max Magnitude3
OMIM612724
Desc
Variant0012
Relatedalso
ClinVar
Risk rs118204430(C;C) rs118204430(G;G)
Alt rs118204430(C;C) rs118204430(G;G)
Reference Rs118204430(T;T)
Significance Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104189862A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000504.3,