Gene: AHI1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434351
rs121434351
AHI1
T 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs397514726
rs397514726
AHI1
A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs772989270
rs772989270
AHI1
A 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225134
rs863225134
AHI1
C 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs863225135
rs863225135
AHI1
C 0.800 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
dbSNP: rs121434350
rs121434350
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs121434351
rs121434351
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs397514726
rs397514726
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs772989270
rs772989270
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs863225134
rs863225134
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs863225135
rs863225135
AHI1
0.800 GeneticVariation UNIPROT The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. 23532844

2013
dbSNP: rs121434350
rs121434350
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs121434351
rs121434351
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs121434351
rs121434351
AHI1
T 0.800 GeneticVariation CLINVAR Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs397514726
rs397514726
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs772989270
rs772989270
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs863225134
rs863225134
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs863225135
rs863225135
AHI1
0.800 GeneticVariation UNIPROT Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 21623382

2011
dbSNP: rs121434350
rs121434350
AHI1
0.800 GeneticVariation UNIPROT AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
dbSNP: rs121434350
rs121434350
AHI1
0.800 GeneticVariation UNIPROT AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
dbSNP: rs121434351
rs121434351
AHI1
0.800 GeneticVariation UNIPROT AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
dbSNP: rs121434351
rs121434351
AHI1
0.800 GeneticVariation UNIPROT AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
dbSNP: rs397514726
rs397514726
AHI1
0.800 GeneticVariation UNIPROT AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 16155189

2006
dbSNP: rs397514726
rs397514726
AHI1
0.800 GeneticVariation UNIPROT AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006
dbSNP: rs772989270
rs772989270
AHI1
0.800 GeneticVariation UNIPROT AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322

2006