DisGeNET - a database of gene-disease associations

ovarian neoplasm, C0919267

Variant: rs786203717 ×

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:

rs786203717

BRIP1

0.700

CausalMutation

CLINVAR

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

29368626

2018

dbSNP:

rs786203717

BRIP1

0.700

CausalMutation

CLINVAR

Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

28423363

2017

dbSNP:

rs786203717

BRIP1

0.700

CausalMutation

CLINVAR

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

18628483

2008