Gene: BRIP1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517643
rs1057517643
BRIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057517648
rs1057517648
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011
dbSNP: rs1057519365
rs1057519365
BRIP1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015
dbSNP: rs1060501739
rs1060501739
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501740
rs1060501740
BRIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501757
rs1060501757
BRIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501763
rs1060501763
BRIP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501765
rs1060501765
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501766
rs1060501766
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060501772
rs1060501772
BRIP1
GC 0.700 CausalMutation CLINVAR

dbSNP: rs1060501774
rs1060501774
BRIP1
A 0.700 GeneticVariation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010
dbSNP: rs1060501774
rs1060501774
BRIP1
A 0.700 GeneticVariation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
dbSNP: rs1060501778
rs1060501778
BRIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060501779
rs1060501779
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs11871753
rs11871753
BRIP1
0.010 GeneticVariation BEFREE A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases. 30799775

2018
dbSNP: rs1292988272
rs1292988272
BRIP1
T 0.700 GeneticVariation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs1295703239
rs1295703239
BRIP1
T 0.700 CausalMutation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055

2011
dbSNP: rs1295703239
rs1295703239
BRIP1
T 0.700 CausalMutation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144

2011
dbSNP: rs1295703239
rs1295703239
BRIP1
TGATA 0.700 CausalMutation CLINVAR

dbSNP: rs1295703239
rs1295703239
BRIP1
T 0.700 CausalMutation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562

2010
dbSNP: rs1295703239
rs1295703239
BRIP1
T 0.700 CausalMutation CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483

2008
dbSNP: rs1304655615
rs1304655615
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1339743866
rs1339743866
BRIP1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1342519012
rs1342519012
BRIP1
A 0.700 GeneticVariation CLINVAR