Source: UNIPROT

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: rs1199923024
rs1199923024
BRIP1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation UNIPROT

dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. 14983014

2004
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs137852985
rs137852985
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. 11301010

2001
dbSNP: rs28903098
rs28903098
BRIP1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs764803896
rs764803896
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 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: rs764803896
rs764803896
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 GeneticVariation UNIPROT The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424

2005
dbSNP: rs764803896
rs764803896
BRIP1
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 GeneticVariation UNIPROT The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005