Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800546
rs1800546
ALDOB
G 0.700 CausalMutation CLINVAR The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance. 12464284

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs78340951
rs78340951
ALDOB
0.800 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs369586696
rs369586696
ALDOB
0.710 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs118204429
rs118204429
ALDOB
A 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs118204429
rs118204429
ALDOB
A 0.700 GeneticVariation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs1554702433
rs1554702433
ALDOB
0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs1554702442
rs1554702442
ALDOB
0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs1800546
rs1800546
ALDOB
G 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs387906225
rs387906225
ALDOB
C 0.700 GeneticVariation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs387906225
rs387906225
ALDOB
C 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs555935217
rs555935217
ALDOB
0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs764701775
rs764701775
ALDOB
0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs76917243
rs76917243
ALDOB
T 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs781023784
rs781023784
ALDOB
0.700 GeneticVariation UNIPROT The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs864309533
rs864309533
ALDOB
A 0.700 CausalMutation CLINVAR The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. 15880727

2005
dbSNP: rs387906225
rs387906225
ALDOB
C 0.700 GeneticVariation CLINVAR The molecular basis of hereditary fructose intolerance in Italian children. 8292669

1993
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). 19768653

2009
dbSNP: rs1800546
rs1800546
ALDOB
G 0.700 CausalMutation CLINVAR Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). 19768653

2009
dbSNP: rs1800546
rs1800546
ALDOB
G 0.700 CausalMutation CLINVAR Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance. 15733923

2005
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs78340951
rs78340951
ALDOB
C 0.800 GeneticVariation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs1800546
rs1800546
ALDOB
G 0.700 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002
dbSNP: rs76917243
rs76917243
ALDOB
T 0.700 CausalMutation CLINVAR Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. 12417303

2002