Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
dbSNP: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
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: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. 20616022 2010
dbSNP: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
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: rs756853672
rs756853672
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. 16280053 2005