Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 20567906

2011
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: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 18805305

2008
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 17072863

2007
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 15146473

2004
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. 11359213

2001
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. 11434706

2001
dbSNP: rs5742905
rs5742905
CBS
G 0.700 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 0.700 CausalMutation CLINVAR Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. 9708897

1998
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations. 8803779

1996
dbSNP: rs5742905
rs5742905
CBS
G 0.700 CausalMutation CLINVAR Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
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 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 0.700 CausalMutation CLINVAR [Hospital outbreak of salmonellosis with secondary cases]. 2056790

1991