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: rs587780226
rs587780226
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237 2017
dbSNP: rs587780226
rs587780226
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
dbSNP: rs587780226
rs587780226
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs587780226
rs587780226
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C1836860
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		A 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