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 Inherited predisposition to breast cancer among African American women. 25428789

2015
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 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 GeneticVariation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR Earlier age of onset of BRCA mutation-related cancers in subsequent generations. 21913181

2012
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. 19491284

2009
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. 19491284

2009
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. 12955719

2003
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing. 12034536

2002
dbSNP: rs80358145
rs80358145
BRCA1
T 0.700 GeneticVariation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001
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