PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Waardenburg Syndrome Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553593965
rs1553593965
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		T 0.700 GeneticVariation CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018