Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25218699

2015
dbSNP: rs760417941
rs760417941
CBS
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: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. 16429402

2006
dbSNP: rs760417941
rs760417941
CBS
T 0.700 CausalMutation CLINVAR Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria. 9870207

1998