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: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011