Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 28832562 2017
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein. 24489909 2014
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs121909200
rs121909200
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs121909201
rs121909201
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. 19951260 2010
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 18220287 2008
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 15146463 2004
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
dbSNP: rs121909200
rs121909200
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
dbSNP: rs121909201
rs121909201
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 11558900 2001
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
dbSNP: rs121909200
rs121909200
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs121909200
rs121909200
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
dbSNP: rs121909201
rs121909201
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs121909201
rs121909201
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 10655545 2000
dbSNP: rs397517920
rs397517920
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999
dbSNP: rs121909196
rs121909196
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		T 0.800 CausalMutation CLINVAR Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999
dbSNP: rs121909200
rs121909200
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.800 GeneticVariation UNIPROT Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. 10464653 1999