PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559318562
rs1559318562
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1
C 0.700 CausalMutation CLINVAR