Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 3 2013 2014