Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs121908120 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 19
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs1219648 0.716 0.320 10 121586676 intron variant A/G;T snv 17
rs2252070 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 13
rs2235371 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 11
rs147680216 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 11
rs12532 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 10
rs121908119 0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 10
rs121908568 0.807 0.160 17 65536495 stop gained G/A snv 9
rs17563 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 8
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 7
rs987525 0.807 0.160 8 128933908 intron variant C/A snv 0.31 7
rs3178250 0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 5
rs4904210 0.851 0.080 14 36666548 missense variant G/C snv 0.36 0.33 5
rs8049367 0.851 0.240 16 3930444 downstream gene variant T/C snv 0.37 4
rs929387 0.851 0.080 7 41966080 missense variant G/A;C snv 0.43; 5.7E-06 4
rs8670 0.925 0.080 4 4863149 3 prime UTR variant C/T snv 0.22 0.23 4
rs61735045 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 3
rs104894562 0.882 0.200 17 28529157 stop gained C/T snv 4.0E-06 7.0E-06 3
rs771803303 0.882 0.160 20 38148005 missense variant G/A;C;T snv 1.6E-05; 4.1E-06 3
rs116998555 0.882 0.080 2 218890118 missense variant C/A;T snv 4.0E-06; 1.9E-03 3
rs140920120 0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 2
rs483352804
EDA
0.925 0.080 X 70035389 missense variant G/A;T snv 2