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rs118204425

From SNPedia

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


Make rs118204425(-;-)
ReferenceGRCh38 38.1/141
Chromosome9
Position101424975
GeneALDOB
is asnp
is mentioned by
dbSNPrs118204425
dbSNP (classic)rs118204425
ClinGenrs118204425
ebirs118204425
HLIrs118204425
Exacrs118204425
Gnomadrs118204425
Varsomers118204425
LitVarrs118204425
Maprs118204425
PheGenIrs118204425
Biobankrs118204425
1000 genomesrs118204425
hgdprs118204425
ensemblrs118204425
geneviewrs118204425
scholarrs118204425
googlers118204425
pharmgkbrs118204425
gwascentralrs118204425
openSNPrs118204425
23andMers118204425
SNPshotrs118204425
SNPdbers118204425
MSV3drs118204425
GWAS Ctlgrs118204425
Max Magnitude3
OMIM612724
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204425(-;-)
Alt rs118204425(-;-)
Reference Rs118204425(CTT;CTT)
Significance Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104187257_104187259delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000495.3,