Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.800 GeneticVariation UNIPROT Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 20639400

2010
dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.800 GeneticVariation UNIPROT The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.800 GeneticVariation UNIPROT The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs786202760
rs786202760
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137852986
rs137852986
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 GeneticVariation BEFREE These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. 26921362

2016
dbSNP: rs137852986
rs137852986
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.710 CausalMutation CLINVAR

dbSNP: rs1028347439
rs1028347439
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517643
rs1057517643
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517643
rs1057517643
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057517643
rs1057517643
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517643
rs1057517643
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519365
rs1057519365
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
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
BRIP1
CUI: C0009402
Disease: Colorectal Carcinoma
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: rs1057519365
rs1057519365
BRIP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
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
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
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
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011