Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs149617956
rs149617956
0.050 GeneticVariation BEFREE Finally, we found the known E318K-substitution in MITF in a RCC-affected member of a family with multiple melanomas.No variants were detected in CDKN2B. 31034483

2019

dbSNP: rs149617956
rs149617956
0.050 GeneticVariation BEFREE The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. 26650189

2016

dbSNP: rs149617956
rs149617956
0.050 GeneticVariation BEFREE The MITF p.E318K mutation does not appear to play a major role in sporadic RCC carcinogenesis, but is possibly restricted to a rare subpopulation of inherited RCC. 26999813

2016

dbSNP: rs149617956
rs149617956
0.050 GeneticVariation BEFREE A French and an Australian study have recently identified a rare germline functional variant in the microphthalmia-associated transcription factor (MITF) (E318K) that predisposes to familial and sporadic melanoma and to renal cell carcinoma (RCC), showing a new link between two tumour types with different risk factors and between deregulated sumoylation and cancer. 23167872

2013

dbSNP: rs149617956
rs149617956
0.050 GeneticVariation BEFREE Here we identify a germline missense substitution in MITF (Mi-E318K) that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls. 22012259

2011

dbSNP: rs699947
rs699947
0.040 GeneticVariation BEFREE And VEGF-rs699947 polymorphism was also identified an increased risk of renal cell carcinoma (RCC) in allelic, heterozygote, dominant, homozygote, and recessive models. 29942264

2018