Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893751
rs104893751
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853236
rs137853236
T 0.700 CausalMutation CLINVAR

dbSNP: rs137853247
rs137853247
A 0.700 CausalMutation CLINVAR

dbSNP: rs1397145500
rs1397145500
0.700 GeneticVariation UNIPROT

dbSNP: rs147608663
rs147608663
0.700 GeneticVariation UNIPROT

dbSNP: rs1555212014
rs1555212014
T 0.700 CausalMutation CLINVAR

dbSNP: rs372947534
rs372947534
0.700 GeneticVariation UNIPROT

dbSNP: rs397516440
rs397516440
VHL
G 0.700 GeneticVariation CLINVAR

dbSNP: rs5030820
rs5030820
VHL
T 0.700 CausalMutation CLINVAR

dbSNP: rs555607708
rs555607708
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776825
rs587776825
GC 0.700 CausalMutation CLINVAR

dbSNP: rs587782274
rs587782274
0.700 GeneticVariation UNIPROT

dbSNP: rs754729248
rs754729248
G 0.700 CausalMutation CLINVAR

dbSNP: rs758175953
rs758175953
A 0.700 GeneticVariation CLINVAR

dbSNP: rs78683075
rs78683075
0.700 GeneticVariation UNIPROT

dbSNP: rs864321679
rs864321679
C 0.700 CausalMutation CLINVAR

dbSNP: rs876658517
rs876658517
0.700 GeneticVariation UNIPROT

dbSNP: rs879255678
rs879255678
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893824
rs104893824
VHL
0.020 GeneticVariation BEFREE Another mutation, T547C, which causes Tyr112 to His, has been seen at the same position and has been associated with VHL type 2A (pheochromocytoma, but no renal cell carcinoma) in two families with a total of 22 affected individuals [Chen F, Slife L, Kishida T, Mulvihill J, Tisherman SE, Zbar B, 1996: J Med Genet 33:716-717]. 10533030

1999

dbSNP: rs1362888828
rs1362888828
0.010 GeneticVariation BEFREE In conclusion, a distinct Tiam1 mutation (A441G) was identified in several human RCCs. 11054665

2000

dbSNP: rs553863637
rs553863637
0.010 GeneticVariation BEFREE In conclusion, a distinct Tiam1 mutation (A441G) was identified in several human RCCs. 11054665

2000

dbSNP: rs1801282
rs1801282
0.010 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919

2001

dbSNP: rs1805192
rs1805192
0.010 GeneticVariation BEFREE Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. 11511919

2001

dbSNP: rs28940297
rs28940297
VHL
0.700 GeneticVariation UNIPROT Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. 11986208

2002

dbSNP: rs104893824
rs104893824
VHL
0.020 GeneticVariation BEFREE From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function. 12510195

2003