rs119103277, 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 10142110 stop gained G/A;C snv 0.810 0.875 8 2004 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 3 10142110 stop gained G/A;C snv 0.700 1.000 1 2012 2012
Cerebellar hemangioblastoma
CUI: C1332900
Disease: Cerebellar hemangioblastoma
4 0.925 0.160 3 10142110 stop gained G/A;C snv 0.700 0