Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964971
rs121964971
CBS
0.710 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: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 22738154

2012
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075

2011
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 15146473

2004
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. 15365998

2004
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 12815602

2003
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation BEFREE The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency. 12007221

2002
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency. 12007221

2002
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. 11553052

2001
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. 11013450

2000
dbSNP: rs121964971
rs121964971
CBS
0.710 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: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. 10462600

1997
dbSNP: rs121964971
rs121964971
CBS
0.710 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: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. 7635485

1995
dbSNP: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. 8528202

1995
dbSNP: rs121964971
rs121964971
CBS
0.710 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: rs121964971
rs121964971
CBS
0.710 GeneticVariation UNIPROT Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717

1994