rs775992753, CBS

N. diseases: 1
Disease: Cystathionine beta-Synthase Deficiency Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
0.800 GeneticVariation UNIPROT Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. 7849717 1994
Cystathionine beta-Synthase Deficiency Disease
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
0.800 CausalMutation CLINVAR