Gene: CBS ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742905
rs5742905
CBS
0.850 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: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 25044645

2014
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 22738154

2012
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 21240075

2011
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs5742905
rs5742905
CBS
0.850 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: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). 15146473

2004
dbSNP: rs5742905
rs5742905
CBS
0.850 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: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 14635102

2003
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. 12007221

2002
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations. 11553052

2001
dbSNP: rs5742905
rs5742905
CBS
0.850 GeneticVariation UNIPROT Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. 11013450

2000
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
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 yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. 8528202

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

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: 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