Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040109
rs886040109
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886037790
rs886037790
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037789
rs886037789
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037788
rs886037788
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		TTCAA 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037787
rs886037787
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037786
rs886037786
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		TG 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037785
rs886037785
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs886037784
rs886037784
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80358146
rs80358146
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80358044
rs80358044
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Chromosome damage in G0 X-irradiated lymphocytes from patients with hereditary retinoblastoma. 6455195

1981
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding. 25366075

2014
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR [Simple and rapid technic of grouping of streptococci]. 824983

1976
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR AIDS legislation. 3175448

1988
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Purification and characterization of a new sodium-transport decarboxylase. Methylmalonyl-CoA decarboxylase from Veillonella alcalescens. 6852015

1983
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR [The measuring for depth of papillary excavation by microcomputer (author's transl)]. 7257965

1980
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. 15117986

2004
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Diagnosis of vertebral fractures. 6848529

1983
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR BRCT repeats as phosphopeptide-binding modules involved in protein targeting. 14576432

2003
dbSNP: rs80357973
rs80357973
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 7680524

1993
dbSNP: rs80357906
rs80357906
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs80357888
rs80357888
BRCA1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR