Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204466
rs786204466
CBS
T 0.700 GeneticVariation CLINVAR Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 21520339

2011
dbSNP: rs786204466
rs786204466
CBS
T 0.700 GeneticVariation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs786204466
rs786204466
CBS
T 0.700 GeneticVariation 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