Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766453711
rs766453711
CBS
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727835
rs794727835
CBS
C 0.700 CausalMutation CLINVAR

dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR A forgotten lethal psychosis: a case report. 23812867

2014
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 7611293

1995
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 19819175

2010
dbSNP: rs786204757
rs786204757
CBS
G 0.700 CausalMutation CLINVAR Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 20066033

2010
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619

2004
dbSNP: rs763290176
rs763290176
CBS
T 0.700 CausalMutation CLINVAR CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. 29352562

2018
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316

1997
dbSNP: rs777919630
rs777919630
CBS
T 0.700 GeneticVariation CLINVAR Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 9156316

1997
dbSNP: rs781444670
rs781444670
CBS
T 0.700 CausalMutation CLINVAR Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717

1994
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6. 14972327

2004
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017

1998
dbSNP: rs786204757
rs786204757
CBS
G 0.700 CausalMutation CLINVAR Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 9889017

1998
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 21517828

2012
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. 9587029

1998
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060

2012
dbSNP: rs781444670
rs781444670
CBS
T 0.700 CausalMutation CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060

2012
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs757428597
rs757428597
CBS
G 0.700 CausalMutation CLINVAR Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs786204757
rs786204757
CBS
G 0.700 CausalMutation CLINVAR Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 22069143

2012