Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
0.810 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970

2003
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
0.810 GeneticVariation BEFREE A previously described missense mutation in this same codon (Asn47His) is associated with Waardenburg syndrome type 3 (Hoth et al., 1993). 8664898

1996
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
0.810 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174

1995
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
0.810 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316

1993
dbSNP: rs104893653
rs104893653
PAX3 ; CCDC140
G 0.810 CausalMutation CLINVAR

dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970

2003
dbSNP: rs104893654
rs104893654
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970

2003
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174

1995
dbSNP: rs104893654
rs104893654
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174

1995
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316

1993
dbSNP: rs104893654
rs104893654
PAX3 ; CCDC140
0.800 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316

1993
dbSNP: rs104893651
rs104893651
PAX3 ; CCDC140
A 0.800 CausalMutation CLINVAR

dbSNP: rs104893654
rs104893654
PAX3 ; CCDC140
G 0.800 CausalMutation CLINVAR

dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.700 GeneticVariation UNIPROT Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 12949970

2003
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.700 GeneticVariation UNIPROT Homozygosity for Waardenburg syndrome. 7726174

1995
dbSNP: rs1228590199
rs1228590199
PAX3 ; LOC107985991
0.700 GeneticVariation UNIPROT Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 8447316

1993
dbSNP: rs1559318494
rs1559318494
PAX3
G 0.700 CausalMutation CLINVAR