BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517590
rs1057517590
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs1057518636
rs1057518636
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
GA 0.700 CausalMutation CLINVAR
dbSNP: rs1060505051
rs1060505051
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692162
rs1131692162
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555581104
rs1555581104
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555582520
rs1555582520
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004
dbSNP: rs1555599208
rs1555599208
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs1800747
rs1800747
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs273898674
rs273898674
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs28897672
rs28897672
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR
dbSNP: rs28897696
rs28897696
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs397508940
rs397508940
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs397508979
rs397508979
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
CGAAAAGTGAA 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs397508983
rs397508983
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs397509160
rs397509160
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs397509173
rs397509173
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122630
rs398122630
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs41293465
rs41293465
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs587781632
rs587781632
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965 2016
dbSNP: rs62625308
rs62625308
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs80356923
rs80356923
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs80356962
rs80356962
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR
dbSNP: rs80356978
rs80356978
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs80357006
rs80357006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 CausalMutation CLINVAR
dbSNP: rs80357086
rs80357086
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C1458155
Disease:
Mammary Neoplasms
T 0.700 CausalMutation CLINVAR