Disease: Branchiootorenal Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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