Gene: PAX3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657717
rs876657717
PAX3
T 0.700 CausalMutation CLINVAR Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome. 26512583

2015
dbSNP: rs876657717
rs876657717
PAX3
T 0.700 CausalMutation CLINVAR Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 9654197

1998
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
AC 0.700 CausalMutation CLINVAR Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. 9017978

1997
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
AC 0.700 CausalMutation CLINVAR The mutational spectrum in Waardenburg syndrome. 8589691

1995
dbSNP: rs1553572967
rs1553572967
PAX3 ; LOC107985991
AC 0.700 CausalMutation CLINVAR Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 8533800

1995
dbSNP: rs876657717
rs876657717
PAX3
T 0.700 CausalMutation CLINVAR Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 1349198

1992