Gene: BRCA1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
BRCA1
0.870 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs28897672
rs28897672
BRCA1
0.870 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs28897672
rs28897672
BRCA1
0.870 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs28897672
rs28897672
BRCA1
0.870 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs28897675
rs28897675
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897681
rs28897681
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897682
rs28897682
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897683
rs28897683
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897687
rs28897687
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897690
rs28897690
BRCA1
0.700 GeneticVariation UNIPROT

dbSNP: rs28897696
rs28897696
BRCA1
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs28897696
rs28897696
BRCA1
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs28897696
rs28897696
BRCA1
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs28897696
rs28897696
BRCA1
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs28897696
rs28897696
BRCA1
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. 28364669

2017
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. 12442275

2002
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198

1998
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. 10323242

1999
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 7545954

1994
dbSNP: rs397507232
rs397507232
BRCA1
0.700 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003