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: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1396860069
rs1396860069
1 1.000 0.040 1 17027831 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs104894307
rs104894307
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 0