DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs587780240 ×

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:

rs587780240

BRIP1

0.700

GeneticVariation

CLINVAR

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

26681312

2016

dbSNP:

rs587780240

BRIP1

0.700

GeneticVariation

CLINVAR

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

19339519

2009

dbSNP:

rs587780240

BRIP1

0.700

GeneticVariation

CLINVAR

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

17033622

2006

dbSNP:

rs587780240

BRIP1

0.700

GeneticVariation

CLINVAR

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

16116423

2005

dbSNP:

rs587780240

BRIP1

0.700

GeneticVariation

CLINVAR

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

15285897

2004