Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10090382
rs10090382
Entrez Id: 2138;105375894
Gene Symbol: EYA1;LOC105375894
EYA1;LOC105375894
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10101067
rs10101067
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs10101067
rs10101067
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs1060499603
rs1060499603
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C3714941
Disease:
OTOFACIOCERVICAL SYNDROME 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499603
rs1060499603
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C1865143
Disease:
BRANCHIOOTIC SYNDROME 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499603
rs1060499603
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs10957550
rs10957550
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0023980
Disease:
Longevity 		0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. 24688116 2014
dbSNP: rs112340154
rs112340154
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1131691667
rs1131691667
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 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: rs1131691667
rs1131691667
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. 10991693 2000
dbSNP: rs121909195
rs121909195
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C4551702
Disease:
Branchiootorenal Syndrome 1 		A 0.700 CausalMutation CLINVAR
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 		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 		0.800 GeneticVariation UNIPROT Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. 9361030 1997
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: 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 		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: 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 		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 		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 		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 		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: 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: rs121909197
rs121909197
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C1865143
Disease:
BRANCHIOOTIC SYNDROME 1 		0.700 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