Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941786
rs28941786
CTH
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.800 GeneticVariation UNIPROT Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase. 18476726

2008
dbSNP: rs28941786
rs28941786
CTH
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria 		0.800 GeneticVariation UNIPROT Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). 12574942

2003