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: rs1060503726
rs1060503726
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503727
rs1060503727
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060503731
rs1060503731
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503732
rs1060503732
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503743
rs1060503743
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060503744
rs1060503744
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503750
rs1060503750
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060503750
rs1060503750
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1064795638
rs1064795638
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs112194987
rs112194987
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: rs112194987
rs112194987
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
dbSNP: rs1253151209
rs1253151209
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: rs1351986946
rs1351986946
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		C 0.700 CausalMutation CLINVAR
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