Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 29446198

2018
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. 28205045

2017
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Inherited predisposition to breast cancer among African American women. 25428789

2015
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. 26287763

2015
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic. 25724305

2015
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001