Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1295703239
rs1295703239
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TGATA 0.700 CausalMutation CLINVAR
dbSNP: rs587781985
rs587781985
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TC 0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs587781985
rs587781985
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555618374
rs1555618374
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TAA 0.700 CausalMutation CLINVAR
dbSNP: rs1483527885
rs1483527885
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1555609254
rs1555609254
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs1567878148
rs1567878148
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
dbSNP: rs587780236
rs587780236
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
dbSNP: rs587780236
rs587780236
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780236
rs587780236
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 GeneticVariation CLINVAR The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423 2005
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 GeneticVariation CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
dbSNP: rs587780240
rs587780240
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
TA 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs786202760
rs786202760
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.800 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: rs1060501740
rs1060501740
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR
dbSNP: rs1064793887
rs1064793887
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
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
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
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
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 GeneticVariation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575 2011
dbSNP: rs1295703239
rs1295703239
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 20159562 2010
dbSNP: rs1295703239
rs1295703239
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144 2011
dbSNP: rs1295703239
rs1295703239
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
dbSNP: rs1295703239
rs1295703239
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055 2011
dbSNP: rs1555573327
rs1555573327
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J
T 0.700 CausalMutation CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144 2011