Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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