Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520009
XPO1
0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 5
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 3
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 2
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv 1
rs5030828
VHL
3 10142101 missense variant T/C snv 1
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs672601307
USP8
1.000 0.080 15 50490443 missense variant T/C snv 1
rs121908859
TSHR ; LOC101928462
1.000 0.040 14 81143914 missense variant A/G snv 1
rs121908864
TSHR ; LOC101928462
0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06 1
rs45507199
TSC2 ; PKD1
0.925 0.120 16 2088294 missense variant G/A;C;T snv 2
rs1567489890
TSC2
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv 3
rs773920155
TSC2
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06 3
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 25
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs587780070
TP53
0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 23
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv 23
rs193920774
TP53
0.695 0.440 17 7673823 missense variant C/A;T snv 21
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 20