rs869025621, VHL

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.700 1.000 2 2013 2016
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.700 0
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013