| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. | 28236341 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. | 28236341 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | The mutational spectrum in Waardenburg syndrome. | 8589691 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | The mutational spectrum in Waardenburg syndrome. | 8589691 | 1995 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Waardenburg syndrome: Novel mutations in a large Brazilian sample. | 29407415 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. | 27473757 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. | 23167872 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. | 23787126 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. | 22012259 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. | 22080950 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
CC | 0.700 | GeneticVariation | CLINVAR |