rs121913346, 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 0.240 3 10149796 missense variant T/A;C snv 0.800 1.000 28 1993 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 3 1998 2009
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 2 2002 2014