Disease: Neoplastic Syndromes, Hereditary
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893825
VHL
1.000 0.120 3 10149819 missense variant G/T snv 2
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs104893830
VHL
0.925 0.160 3 10146561 missense variant G/C;T snv 3
rs1131690964
VHL
1.000 0.120 3 10142124 frameshift variant G/- delins 2
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
rs193922608
VHL
1.000 0.120 3 10142089 missense variant C/A;T snv 4.3E-06; 4.3E-06 2
rs193922609
VHL
1.000 0.120 3 10142167 missense variant G/A;C snv 2
rs193922613
VHL
0.925 0.160 3 10149847 missense variant A/G;T snv 3
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 9
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv 4
rs398123481
VHL
1.000 0.120 3 10142103 missense variant C/G;T snv 2
rs5030622
VHL
0.925 0.160 3 10149809 stop gained C/A;G snv 3
rs5030802
VHL
1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 2
rs5030804
VHL
0.925 0.160 3 10142080 missense variant A/C;G;T snv 3
rs5030807
VHL
0.851 0.320 3 10142113 missense variant T/A;C snv 5
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 10
rs5030816
VHL
0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 3
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv 4
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
rs5030822
VHL
0.925 0.160 3 10149856 missense variant T/A;C;G snv 3
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 9
rs5030827
VHL
0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 4