DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Renal Cell Carcinoma ×

Variant: rs869025668 ×

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:

rs869025668

rs869025668

VHL

CUI:	C0007134
Disease:	Renal Cell Carcinoma

Renal Cell Carcinoma

0.010

GeneticVariation

BEFREE

Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

2011