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: rs1559320252
rs1559320252
Entrez Id: 5077;151278
Gene Symbol: PAX3;CCDC140
PAX3;CCDC140
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		G 0.700 CausalMutation CLINVAR