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 Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? 18036263

2007
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. 19200354

2009
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014
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 Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421

2012
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 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 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646

2009
dbSNP: rs41293459
rs41293459
BRCA1
T 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007