Disease: Von Hippel-Lindau Syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553619976
VHL
0.925 0.160 3 10146593 frameshift variant -/A delins 3
rs786202787
VHL
1.000 0.120 3 10142085 missense variant A/C;G snv 2
rs5030804
VHL
0.925 0.160 3 10142080 missense variant A/C;G;T snv 3
rs869025621
VHL
0.882 0.240 3 10142079 missense variant A/C;G;T snv 2
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv 3
rs193922613
VHL
0.925 0.160 3 10149847 missense variant A/G;T snv 3
rs5030816
VHL
0.925 0.160 3 10149785 splice acceptor variant A/G;T snv 3
rs730882031
VHL
1.000 0.120 3 10142039 frameshift variant C/- del 2
rs5030622
VHL
0.925 0.160 3 10149809 stop gained C/A;G snv 3
rs193922608
VHL
1.000 0.120 3 10142089 missense variant C/A;T snv 4.3E-06; 4.3E-06 2
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 5
rs398123481
VHL
1.000 0.120 3 10142103 missense variant C/G;T snv 2
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
rs730882034
VHL
0.925 0.160 3 10142104 missense variant C/G;T snv 3
rs765978945
VHL
1.000 0.120 3 10142180 missense variant C/G;T snv 4.5E-06 2
rs864622109
VHL
1.000 0.120 3 10149878 stop gained C/G;T snv 2
rs28940298
VHL
0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 4
rs1131690964
VHL
1.000 0.120 3 10142124 frameshift variant G/- delins 2
rs869025615
VHL
1.000 0.120 3 10142009 frameshift variant G/-;GG delins 2
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 3
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs119103277
VHL
0.925 0.160 3 10142110 stop gained G/A;C snv 3
rs193922609
VHL
1.000 0.120 3 10142167 missense variant G/A;C snv 2
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 3