rs5030822, 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 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.800 1.000 11 2004 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.700 1.000 10 1994 2008
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.700 1.000 4 2007 2016