rs794726890, VHL

N. diseases: 2
Source: INFERRED ×
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
0.925 0.160 3 10142092 missense variant G/C;T snv 0.800 1.000 11 2000 2017
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
0.925 0.160 3 10142092 missense variant G/C;T snv 0.700 1.000 7 2000 2016