Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501739
rs1060501739
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501740
rs1060501740
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501740
rs1060501740
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501757
rs1060501757
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501757
rs1060501757
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501763
rs1060501763
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501763
rs1060501763
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501765
rs1060501765
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501765
rs1060501765
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501766
rs1060501766
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501766
rs1060501766
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501772
rs1060501772
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1060501774
rs1060501774
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
dbSNP: rs1060501774
rs1060501774
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
dbSNP: rs1060501774
rs1060501774
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 GeneticVariation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010
dbSNP: rs1060501774
rs1060501774
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010
dbSNP: rs1060501778
rs1060501778
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501778
rs1060501778
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501779
rs1060501779
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501779
rs1060501779
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1064793887
rs1064793887
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011
dbSNP: rs1064793887
rs1064793887
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622

2006
dbSNP: rs1064793887
rs1064793887
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
dbSNP: rs1064793887
rs1064793887
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064794890
rs1064794890
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		C 0.700 CausalMutation CLINVAR