Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 26464485

2015
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 21517828

2012
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 16205833

2005
dbSNP: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR 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: rs398123151
rs398123151
CBS
A 0.700 CausalMutation CLINVAR Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. 10408774

1999