| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. | 21898658 | 2011 | |||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. | 18348274 | 2008 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | SOX10 mutations in patients with Waardenburg-Hirschsprung disease. | 9462749 | 1998 | |||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
GC | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CT | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 | ||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 | ||||||
|
|
|
CG | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
CC | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
ACGGGCATGGGCACCAGCGTC | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR |