Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 5
rs5030826
VHL
0.827 0.200 3 10142041 stop gained C/A;G;T snv 5
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 4
rs397516440
VHL
0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 4
rs5030807
VHL
0.851 0.320 3 10142113 missense variant T/A;C snv 4
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv 4
rs5030823
VHL
0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 4
rs104893830
VHL
0.925 0.160 3 10146561 missense variant G/C;T snv 3
rs119103277
VHL
0.925 0.160 3 10142110 stop gained G/A;C snv 3
rs121913346
VHL
0.925 0.240 3 10149796 missense variant T/A;C snv 3
rs1553619976
VHL
0.925 0.160 3 10146593 frameshift variant -/A delins 3
rs193922613
VHL
0.925 0.160 3 10149847 missense variant A/G;T snv 3
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv 3
rs5030622
VHL
0.925 0.160 3 10149809 stop gained C/A;G snv 3
rs5030804
VHL
0.925 0.160 3 10142080 missense variant A/C;G;T snv 3
rs5030808
VHL
0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 3
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs5030816
VHL
0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 3
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 3
rs5030822
VHL
0.925 0.160 3 10149856 missense variant T/A;C;G snv 3
rs5030830
VHL
0.925 0.160 3 10146526 missense variant T/C;G snv 3
rs730882034
VHL
0.925 0.160 3 10142104 missense variant C/G;T snv 3
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 3