Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776511
rs587776511
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		0.800 GeneticVariation UNIPROT

dbSNP: rs587776511
rs587776511
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.800 CausalMutation CLINVAR

dbSNP: rs113758103
rs113758103
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs118203914
rs118203914
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
dbSNP: rs118203914
rs118203914
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs118203915
rs118203915
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		C 0.700 CausalMutation CLINVAR

dbSNP: rs118203916
rs118203916
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
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
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 CausalMutation CLINVAR Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. 1357662

1992
dbSNP: rs1426882225
rs1426882225
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555537662
rs1555537662
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555537673
rs1555537673
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555537741
rs1555537741
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555537814
rs1555537814
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555537871
rs1555537871
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555538138
rs1555538138
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555538156
rs1555538156
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		CA 0.700 GeneticVariation CLINVAR Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 27832414

2017
dbSNP: rs587776512
rs587776512
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		C 0.700 CausalMutation CLINVAR

dbSNP: rs746077579
rs746077579
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		AG 0.700 GeneticVariation CLINVAR

dbSNP: rs748924248
rs748924248
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR

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
dbSNP: rs775488556
rs775488556
TAT ; TAT-AS1
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. 9544843

1998