Gene: VHL ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025655
rs869025655
VHL
C 0.700 CausalMutation CLINVAR Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. 29748190

2018
dbSNP: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566

2017
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs794726890
rs794726890
VHL
C 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566

2017
dbSNP: rs1559426203
rs1559426203
VHL
G 0.700 CausalMutation CLINVAR Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system. 28379443

2017
dbSNP: rs869025655
rs869025655
VHL
C 0.700 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Coexistence of VHL Disease and CPT2 Deficiency: A Case Report. 27034144

2016
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs730882034
rs730882034
VHL
G 0.810 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652

2016
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: rs5030822
rs5030822
VHL
C 0.800 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs794726890
rs794726890
VHL
C 0.800 CausalMutation CLINVAR Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function. 26973240

2016
dbSNP: rs794726890
rs794726890
VHL
T 0.800 CausalMutation CLINVAR Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function. 26973240

2016
dbSNP: rs869025636
rs869025636
VHL
A 0.800 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs1559426203
rs1559426203
VHL
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs1559426203
rs1559426203
VHL
T 0.700 CausalMutation CLINVAR Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. 25867206

2016
dbSNP: rs5030648
rs5030648
VHL
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016
dbSNP: rs5030819
rs5030819
VHL
T 0.700 CausalMutation CLINVAR Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. 26920352

2016
dbSNP: rs869025622
rs869025622
VHL
T 0.700 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
dbSNP: rs869025637
rs869025637
VHL
G 0.700 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: rs5030804
rs5030804
VHL
G 0.810 CausalMutation CLINVAR E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis. 26503325

2015
dbSNP: rs5030821
rs5030821
VHL
A 0.810 CausalMutation CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111

2015
dbSNP: rs104893830
rs104893830
VHL
T 0.800 CausalMutation CLINVAR Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 25563310

2015
dbSNP: rs267607170
rs267607170
VHL
G 0.800 CausalMutation CLINVAR E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis. 26503325

2015
dbSNP: rs5030820
rs5030820
VHL
T 0.800 CausalMutation CLINVAR Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 25563310

2015