Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025631
rs869025631
VHL
A 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: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. 18446368

2008
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. 17407064

2007
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma. 17997830

2007
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. 14722919

2004
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA. 11058902

2000
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. 10088816

1999
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911

1998
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290

1996
dbSNP: rs869025631
rs869025631
VHL
A 0.800 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995