Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780833
rs587780833
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 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: rs587780833
rs587780833
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		T 0.700 GeneticVariation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727 2015
dbSNP: rs587780833
rs587780833
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: rs587780833
rs587780833
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: rs587780833
rs587780833
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