BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: TUMOR PREDISPOSITION SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. 26683624 2015
dbSNP: rs869025212
rs869025212
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011