Gene: VHL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690955
rs1131690955
VHL
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1131690956
rs1131690956
VHL
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131690958
rs1131690958
VHL
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690959
rs1131690959
VHL
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553619957
rs1553619957
VHL
T 0.700 CausalMutation CLINVAR

dbSNP: rs193922609
rs193922609
VHL
C 0.700 CausalMutation CLINVAR

dbSNP: rs5030807
rs5030807
VHL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs5030816
rs5030816
VHL
G 0.700 CausalMutation CLINVAR

dbSNP: rs5030824
rs5030824
VHL
G 0.700 CausalMutation CLINVAR

dbSNP: rs5030829
rs5030829
VHL
T 0.700 CausalMutation CLINVAR

dbSNP: rs730882030
rs730882030
VHL
A 0.700 CausalMutation CLINVAR

dbSNP: rs730882031
rs730882031
VHL
G 0.700 CausalMutation CLINVAR

dbSNP: rs730882037
rs730882037
VHL
C 0.700 CausalMutation CLINVAR

dbSNP: rs730882039
rs730882039
VHL
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025631
rs869025631
VHL
A 0.700 CausalMutation CLINVAR

dbSNP: rs398123481
rs398123481
VHL
T 0.700 CausalMutation CLINVAR Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. 7553625

1995
dbSNP: rs5030824
rs5030824
VHL
G 0.700 GeneticVariation CLINVAR Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 7563486

1995
dbSNP: rs5030622
rs5030622
VHL
G 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs5030802
rs5030802
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs730882034
rs730882034
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs730882035
rs730882035
VHL
A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs765978945
rs765978945
VHL
G 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs869025615
rs869025615
VHL
T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151

1995
dbSNP: rs1131690964
rs1131690964
VHL
C 0.700 CausalMutation CLINVAR Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. 7977367

1994