Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
G | 0.810 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. | 12949970 | 2003 | |||||||
|
|
|
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 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | Homozygosity for Waardenburg syndrome. | 7726174 | 1995 | |||||||
|
|
|
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 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Homozygosity for Waardenburg syndrome. | 7726174 | 1995 | |||||||
|
|
|
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 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. | 12949970 | 2003 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
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 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. | 12949970 | 2003 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Homozygosity for Waardenburg syndrome. | 7726174 | 1995 | |||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Homozygosity for Waardenburg syndrome. | 7726174 | 1995 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. | 12949970 | 2003 | |||||||
|
|
|
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 | |||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR |