Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934891
rs28934891
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		T 0.700 CausalMutation CLINVAR Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 23974653

2014
dbSNP: rs28934891
rs28934891
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		T 0.700 CausalMutation CLINVAR Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 20506325

2010
dbSNP: rs28934891
rs28934891
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		T 0.700 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 10364517

1999
dbSNP: rs28934891
rs28934891
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		T 0.700 CausalMutation CLINVAR Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. 8755636

1996