Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001

2006
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653

2004
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. 15133503

2004
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer. 12827452

2003
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798

2001
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. 11504767

2001
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons. 11410501

2001