Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 16825431

2007
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 14670928

2004
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. 14559878

2003
dbSNP: rs28897743
rs28897743
BRCA2
0.800 GeneticVariation UNIPROT Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746

2002
dbSNP: rs28897743
rs28897743
BRCA2
A 0.800 CausalMutation CLINVAR

dbSNP: rs28897743
rs28897743
BRCA2
A 0.800 GeneticVariation CLINVAR