Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Genetic counseling in renal masses. 19009041

2008
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene. 18836774

2008
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664

2007
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641

2005
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. 12114495

2002
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA. 11058902

2000
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040

1996
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293

1996
dbSNP: rs5030822
rs5030822
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306

1994