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: rs774528745
rs774528745
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		0.800 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
dbSNP: rs774528745
rs774528745
Entrez Id: 5077;107985991
Gene Symbol: PAX3;LOC107985991
PAX3;LOC107985991
CUI: C1847800
Disease:
Waardenburg Syndrome Type 1 		T 0.800 CausalMutation CLINVAR