DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×

Variant: rs869312763 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs869312763

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Improving performance of multigene panels for genomic analysis of cancer predisposition.

26845104

2016

dbSNP:

rs869312763

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Mutations in BRIP1 confer high risk of ovarian cancer.

21964575

2011

dbSNP:

rs869312763

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

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

17033622

2006

dbSNP:

rs869312763

BRIP1

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

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

16116423

2005