rs5030808, VHL

N. diseases: 3
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.
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 11 1996 2017
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
186 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 3 2013 2014
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.700 1.000 4 1996 2007