DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Gene: BRCA1 ×

Source: CLINVAR ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80357474

BRCA1

0.800

CausalMutation

CLINVAR

dbSNP:

rs1060502356

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs273899695

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs273900724

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs397509181

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs397509212

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.

30962250

2019

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

30765603

2019

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.

30257991

2019

dbSNP:

rs45444999

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs55851803

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80187739

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80356857

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80356929

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80356988

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80356993

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357150

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357382

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357389

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357446

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80357475

BRCA1 ; NBR2

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80358008

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80358019

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019

dbSNP:

rs80358027

BRCA1

0.700

CausalMutation

CLINVAR

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

31131967

2019