DisGeNET - a database of gene-disease associations

FANCONI ANEMIA, COMPLEMENTATION GROUP J, C1836860

Variant: rs786203700 ×

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:

rs786203700

BRIP1

0.700

GeneticVariation

CLINVAR

Inherited Mutations in Women With Ovarian Carcinoma.

26720728

2016

dbSNP:

rs786203700

BRIP1

0.700

GeneticVariation

CLINVAR

Mutations in BRIP1 confer high risk of ovarian cancer.

21964575

2011

dbSNP:

rs786203700

BRIP1

0.700

GeneticVariation

CLINVAR

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

17033622

2006

dbSNP:

rs786203700

BRIP1

0.700

GeneticVariation

CLINVAR

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

16116423

2005