DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Mammary Neoplasms ×

Gene: BRCA1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057517590

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs1057518636

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060505051

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs1131692162

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555581104

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555582520

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs1555599208

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs1800747

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs273898674

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs28897672

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs28897696

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs397508940

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs397508979

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

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

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs397509160

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs397509173

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs398122630

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs41293465

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs587781632

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs62625308

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356923

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356962

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356978

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357006

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357086

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR