rs5030819, VHL

N. diseases: 2
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.
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.925 0.160 3 10149813 stop gained C/G;T snv 0.700 1.000 4 1996 2016
Von Hippel-Lindau Syndrome
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
187 0.925 0.160 3 10149813 stop gained C/G;T snv 0.700 1.000 4 1996 2016