DisGeNET - a database of gene-disease associations

ovarian neoplasm, C0919267

Variant: rs587781321 ×

Source: ALL

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:

rs587781321

BRIP1

0.700

CausalMutation

CLINVAR

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

26786923

2016

dbSNP:

rs587781321

BRIP1

0.700

CausalMutation

CLINVAR

Inherited Mutations in Women With Ovarian Carcinoma.

26720728

2016

dbSNP:

rs587781321

BRIP1

0.700

CausalMutation

CLINVAR

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

26315354

2015

dbSNP:

rs587781321

BRIP1

0.700

CausalMutation

CLINVAR

Patterns and functional implications of rare germline variants across 12 cancer types.

26689913

2015

dbSNP:

rs587781321

BRIP1

0.700

CausalMutation

CLINVAR

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

24763289

2014