rs104893826, 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 0.882 0.200 3 10142038 missense variant G/A;C snv 0.800 0
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 7 1998 2014