Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs779270933
rs779270933
CBS
T 0.700 CausalMutation CLINVAR Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 29326875

2018
dbSNP: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 26464485

2015
dbSNP: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs121964972
rs121964972
CBS
A 0.700 CausalMutation CLINVAR A forgotten lethal psychosis: a case report. 23812867

2014
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs28934891
rs28934891
CBS
T 0.700 CausalMutation CLINVAR Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis. 25516723

2014
dbSNP: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs771298943
rs771298943
CBS
T 0.700 CausalMutation CLINVAR High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. 24211323

2014
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. 23733603

2013
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. 22985361

2013
dbSNP: rs148865119
rs148865119
CBS
A 0.700 GeneticVariation CLINVAR Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. 23733603

2013
dbSNP: rs121964962
rs121964962
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Conformational properties of nine purified cystathionine β-synthase mutants. 22612060

2012
dbSNP: rs121964964
rs121964964
CBS
A 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
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: rs121964973
rs121964973
CBS
A 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs1347651454
rs1347651454
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

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: rs372010465
rs372010465
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
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