Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1028347439
rs1028347439
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057517643
rs1057517643
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517643
rs1057517643
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057517643
rs1057517643
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease:
ovarian neoplasm 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517643
rs1057517643
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057517648
rs1057517648
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057517648
rs1057517648
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517648
rs1057517648
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517648
rs1057517648
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease:
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517648
rs1057517648
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease:
ovarian neoplasm 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0919267
Disease:
ovarian neoplasm 		A 0.700 CausalMutation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
dbSNP: rs1057519365
rs1057519365
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.700 GeneticVariation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
dbSNP: rs1060501739
rs1060501739
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060501739
rs1060501739
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060501740
rs1060501740
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501740
rs1060501740
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 CausalMutation CLINVAR