Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening. 10807759

2000
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR Prevalence of congenital homocystinuria in Denmark. 10328723

1999
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 10364517

1999
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR Cystathionine beta-synthase mutations in homocystinuria. 10338090

1999
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. 10215408

1998
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR High prevalence of a mutation in the cystathionine beta-synthase gene. 8940271

1996
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation BEFREE Because of both the high prevalence of the 833T-->C mutation among homozygotes for CBS deficiency and its absence in 60 cardiovascular patients, we may conclude that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease. 8554066

1996
dbSNP: rs5742905
rs5742905
CBS
G 0.850 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
0.850 GeneticVariation UNIPROT Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT 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
0.850 GeneticVariation UNIPROT A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. 8528202

1995
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717

1994
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. 7981678

1994
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. 1301198

1992
dbSNP: rs5742905
rs5742905
CBS
G 0.850 CausalMutation CLINVAR Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. 6711564

1984
dbSNP: rs398123151
rs398123151
CBS
0.810 GeneticVariation BEFREE The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a founder mutation, c.1006C>T (p.R336C). 31240737

2019
dbSNP: rs121964962
rs121964962
CBS
0.810 GeneticVariation BEFREE The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. 30030379

2018
dbSNP: rs121964969
rs121964969
CBS
T 0.810 GeneticVariation CLINVAR The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. 28488385

2017
dbSNP: rs121964969
rs121964969
CBS
T 0.810 GeneticVariation CLINVAR Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 25331909

2015
dbSNP: rs121964962
rs121964962
CBS
0.810 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs121964962
rs121964962
CBS
0.810 GeneticVariation UNIPROT 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: rs121964969
rs121964969
CBS
0.810 GeneticVariation UNIPROT 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: rs121964969
rs121964969
CBS
0.810 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs760214620
rs760214620
CBS
0.810 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014