DisGeNET - a database of gene-disease associations

ovarian neoplasm, C0919267

Variant: rs730881649 ×

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:

rs730881649

BRIP1

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs730881649

BRIP1

0.700

CausalMutation

CLINVAR

Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

26681682

2016

dbSNP:

rs730881649

BRIP1

0.700

CausalMutation

CLINVAR

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

26976419

2016

dbSNP:

rs730881649

BRIP1

0.700

CausalMutation

CLINVAR

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

17033622

2006

dbSNP:

rs730881649

BRIP1

0.700

CausalMutation

CLINVAR

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

16116423

2005