DisGeNET - a database of gene-disease associations

ovarian neoplasm, C0919267

Variant: rs730881645 ×

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:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

25186627

2015

dbSNP:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

22792074

2012

dbSNP:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

21127055

2011

dbSNP:

rs730881645

BRIP1

0.700

GeneticVariation

CLINVAR

BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

20159562

2010