BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143901408
rs143901408
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553644634
rs1553644634
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553644659
rs1553644659
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 22545102 2012
dbSNP: rs1553644659
rs1553644659
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 25974357 2015
dbSNP: rs1553644815
rs1553644815
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1553644815
rs1553644815
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1553644922
rs1553644922
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553644949
rs1553644949
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553645117
rs1553645117
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553645126
rs1553645126
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1553645136
rs1553645136
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1553645146
rs1553645146
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553645164
rs1553645164
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 22545102 2012
dbSNP: rs1553645164
rs1553645164
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553645164
rs1553645164
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. 27181379 2016
dbSNP: rs1553645329
rs1553645329
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553645492
rs1553645492
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1553645497
rs1553645497
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1553645586
rs1553645586
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CTAGTA 0.700 CausalMutation CLINVAR
dbSNP: rs1553645591
rs1553645591
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1553645720
rs1553645720
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel Germline BAP1 Mutation. 26154183 2015
dbSNP: rs1553645725
rs1553645725
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553645729
rs1553645729
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs1553645729
rs1553645729
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs1553645729
rs1553645729
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011