Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761817519
rs761817519
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 GeneticVariation CLINVAR Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. 28255985

2017
dbSNP: rs761817519
rs761817519
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 GeneticVariation CLINVAR Richner-Hanhart syndrome detected by expanded newborn screening. 18577048

2008
dbSNP: rs761817519
rs761817519
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 GeneticVariation CLINVAR Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. 9544843

1998