Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. 27530247

2016
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. 23036577

2013
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma. 22156657

2012
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710

2012
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease compared to sporadic bilateral or multifocal renal cell carcinoma. 19949673

2009
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298

2009
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202

2009
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370

2007
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370

2007
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. 16488999

2006
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160

2003
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas. 12853836

2003
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160

2003
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters. 11921283

2002
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. 11309459

2001
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. 11309459

2001
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. 10766184

2000
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. 11114638

2000
dbSNP: rs1553619431
rs1553619431
VHL
C 0.800 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs1553619431
rs1553619431
VHL
A 0.800 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999