rs397516440, 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.
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.800 1.000 3 2013 2014
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 1.000 4 2002 2013
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0