Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203916
rs118203916
Tyrosine Transaminase Deficiency Disease
A 0.700 CausalMutation CLINVAR TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 16917729

2006

dbSNP: rs118203916
rs118203916
Tyrosine Transaminase Deficiency Disease
A 0.700 CausalMutation CLINVAR Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992