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rs145078268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hereditary fructose intolerance mutation
Make rs145078268(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position101424931
GeneALDOB
is asnp
is mentioned by
dbSNPrs145078268
dbSNP (classic)rs145078268
ClinGenrs145078268
ebirs145078268
HLIrs145078268
Exacrs145078268
Gnomadrs145078268
Varsomers145078268
LitVarrs145078268
Maprs145078268
PheGenIrs145078268
Biobankrs145078268
1000 genomesrs145078268
hgdprs145078268
ensemblrs145078268
geneviewrs145078268
scholarrs145078268
googlers145078268
pharmgkbrs145078268
gwascentralrs145078268
openSNPrs145078268
23andMers145078268
SNPshotrs145078268
SNPdbers145078268
MSV3drs145078268
GWAS Ctlgrs145078268
Max Magnitude3
ClinVar
Risk rs145078268(G;G) rs145078268(T;T)
Alt rs145078268(G;G) rs145078268(T;T)
Reference Rs145078268(C;C)
Significance Probable-Pathogenic
Disease Hereditary fructosuria
Variation info
Gene ALDOB
CLNDBN Hereditary fructosuria
Reversed 0
HGVS NC_000009.11:g.104187213C>T
CLNSRC
CLNACC RCV000477962.1,