Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. 22185575

2011
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. 20345474

2010
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR The contribution of founder mutations in BRCA1 to breast cancer in Belarus. 20507347

2010
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. 20569256

2010
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Molecular and in silico analysis of BRCA1 and BRCA2 variants. 18694767

2008
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. 15994883

2005
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. 15353005

2004
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. 12142080

2002
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Frequency of BRCA1 mutation 5382insC in German breast cancer patients. 10053113

1999
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. 9150153

1997
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. 9042909

1997
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967

1996
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		TG 0.700 CausalMutation CLINVAR Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 7894492

1994