Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778220779
rs778220779
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		G 0.700 CausalMutation CLINVAR Surrogate genetics and metabolic profiling for characterization of human disease alleles. 22267502

2012
dbSNP: rs778220779
rs778220779
CBS
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		G 0.700 CausalMutation CLINVAR The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 12124992

2002