Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.870 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		C 0.730 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.730 GeneticVariation UNIPROT

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		C 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		C 0.700 CausalMutation CLINVAR

dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		C 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		C 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		C 0.700 CausalMutation CLINVAR A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance. 18680205

2009
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance. 18680205

2009
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. 12601471

2003
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair. 14976165

2004
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families. 20683152

2010
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159

2001
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 physically and functionally interacts with ATF1. 10945975

2000
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance. 22172724

2011