DisGeNET - a database of gene-disease associations

ovarian neoplasm, C0919267

Variant: rs41293459 ×

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:

rs41293459

rs41293459

BRCA1

0.710

GeneticVariation

BEFREE

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

2012

dbSNP:

rs41293459

rs41293459

BRCA1

T

0.710

GeneticVariation

CLINVAR