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rs387906226

From SNPedia

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


Make rs387906226(-;-)
ReferenceGRCh38 38.1/141
Chromosome9
Position101426627
GeneALDOB
is asnp
is mentioned by
dbSNPrs387906226
dbSNP (classic)rs387906226
ClinGenrs387906226
ebirs387906226
HLIrs387906226
Exacrs387906226
Gnomadrs387906226
Varsomers387906226
LitVarrs387906226
Maprs387906226
PheGenIrs387906226
Biobankrs387906226
1000 genomesrs387906226
hgdprs387906226
ensemblrs387906226
geneviewrs387906226
scholarrs387906226
googlers387906226
pharmgkbrs387906226
gwascentralrs387906226
openSNPrs387906226
23andMers387906226
SNPshotrs387906226
SNPdbers387906226
MSV3drs387906226
GWAS Ctlgrs387906226
Max Magnitude3
ClinVar
Risk rs387906226(-;-)
Alt rs387906226(-;-)
Reference Rs387906226(TGGTAC;TGGTAC)
Significance Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 1
HGVS NC_000009.11:g.104188909_104188914delTACCAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000503.2,