DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Renal Cell Carcinoma ×

Variant: rs121913346 ×

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:

rs121913346

VHL

CUI:	C0007134
Disease:	Renal Cell Carcinoma

Renal Cell Carcinoma

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913346

VHL

CUI:	C0007134
Disease:	Renal Cell Carcinoma

Renal Cell Carcinoma

0.700

GeneticVariation

CLINVAR

Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

11921283

2002