Gene: CBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437

2018
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE To this purpose we have used platelets harvested from healthy volunteers or patients newly diagnosed with hyperhomocysteinemia with a C677T polymorphism of the MTHFR gene (MTHFR++). 24019484

2013
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE Gene polymorphism (especially MTHFR C677T transition), folate and vitamin B12 deficiencies, male gender and high blood lead level appear to be contributing towards the development of hyperhomocysteinemia in a Pakistani population. 22470444

2012
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957

2012
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE We also found a relationship between C677T polymorphism type and hyperhomocysteinemia (p=0.0266). 19166826

2009
dbSNP: rs777919630
rs777919630
CBS
0.060 GeneticVariation BEFREE A prevalence of up to 30% of fasting hyperhomocysteinemia has been recently reported in patients with retinal vein occlusion (RVO) whereas conflicting data exist on the role of C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene as a risk factor for RVO. 12877902

2003
dbSNP: rs5742905
rs5742905
CBS
0.030 GeneticVariation BEFREE Tg-I278T Cbs(-/-) mice exhibited severe hyperhomocysteinemia and endothelial dysfunction in cerebral arterioles. 22186991

2012
dbSNP: rs5742905
rs5742905
CBS
0.030 GeneticVariation BEFREE We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. 10807759

2000
dbSNP: rs5742905
rs5742905
CBS
0.030 GeneticVariation BEFREE Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes.In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients. 10190322

1999
dbSNP: rs121964971
rs121964971
CBS
0.020 GeneticVariation BEFREE Furthermore, we characterized monocyte heterogeneity in Tg-hCBS apoE(-/-) Cbs(-/-) mice and another severe HHcy mouse model (Tg-S466L Cbs(-/-)) with a disease-relevant mutation (Tg-S466L) that lacks hyperlipidemia. 19858416

2009
dbSNP: rs121964971
rs121964971
CBS
0.020 GeneticVariation BEFREE Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. 18454451

2008
dbSNP: rs1237063529
rs1237063529
CBS
0.010 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437

2018
dbSNP: rs876657421
rs876657421
CBS
0.010 GeneticVariation BEFREE Tg-I278T Cbs(-/-) mice exhibited severe hyperhomocysteinemia and endothelial dysfunction in cerebral arterioles. 22186991

2012