Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131690965
VHL
3 10146511 splice region variant T/G snv 1
rs5030830
VHL
0.925 0.160 3 10146526 missense variant T/C;G snv 3
rs1131690956
VHL
3 10146531 frameshift variant A/- del 1
rs104893831
VHL
0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 4
rs1553619957
VHL
3 10146560 frameshift variant G/- delins 1
rs104893830
VHL
0.925 0.160 3 10146561 missense variant G/C;T snv 3
rs1131690961
VHL
3 10146570 missense variant A/C snv 1
rs5030833
VHL
0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 3
rs1131690955
VHL
3 10146591 frameshift variant -/A ins 1
rs1553619976
VHL
0.925 0.160 3 10146593 frameshift variant -/A delins 3
rs587780077
VHL
1.000 0.120 3 10146618 missense variant G/A;C;T snv 2
rs869025655
VHL
0.925 0.160 3 10146625 missense variant T/C;G snv 3
rs1131690954
VHL
3 10146639 splice region variant A/G snv 1
rs5030816
VHL
0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 3
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv 4
rs121913346
VHL
0.925 0.240 3 10149796 missense variant T/A;C snv 3
rs1553620312
VHL
3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 1
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv 4
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs5030622
VHL
0.925 0.160 3 10149809 stop gained C/A;G snv 3
rs1553620318
VHL
3 10149810 missense variant C/T snv 1
rs104893825
VHL
1.000 0.120 3 10149819 missense variant G/T snv 2
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 8
rs1131690962
VHL
3 10149829 missense variant T/C snv 1