| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Germline BAP1 mutations predispose to malignant mesothelioma. | 21874000 | 2011 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | Germline BAP1 mutations predispose to renal cell carcinomas. | 23684012 | 2013 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Germline BAP1 mutations predispose to malignant mesothelioma. | 21874000 | 2011 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Germline BAP1 mutations predispose to renal cell carcinomas. | 23684012 | 2013 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | Hereditary uveal melanoma: a report of a germline mutation in BAP1. | 23341325 | 2013 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Germline BAP1 mutations predispose to renal cell carcinomas. | 23684012 | 2013 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Germline BAP1 mutations predispose to malignant mesothelioma. | 21874000 | 2011 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. | 22545102 | 2012 | ||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR |