Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7107217 0.882 0.160 11 129603795 intron variant A/C;G snv 1
rs35628 1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs758814202 1.000 0.080 10 126066725 missense variant C/G snv 4.0E-06 1
rs587782652 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 1
rs770641163 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 1
rs1262069856 1.000 0.080 2 214728724 stop gained C/T snv 1
rs61754118 1.000 0.080 2 214728798 missense variant T/C snv 7.7E-03 7.4E-03 1
rs377294979
BAX
1.000 0.080 19 48961574 missense variant G/A;C snv 3.7E-05; 4.1E-06 1
rs1296005499 1.000 0.080 17 43045746 missense variant C/T snv 1
rs2227945 1.000 0.080 17 43092113 missense variant T/C;G snv 2.5E-03 1.0E-02 1
rs80356923 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 1
rs80357034 0.882 0.200 17 43067610 missense variant G/A;C;T snv 1
rs80357064 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 1
rs80357336 0.925 0.080 17 43045711 stop gained G/C;T snv 1
rs80357635 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 1
rs80358972 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 1
rs80359198 0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05 1
rs587782462 1.000 0.080 16 23641140 synonymous variant C/A;T snv 1
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 1
rs139399785 1.000 0.080 1 226380111 stop gained G/A;T snv 4.0E-06; 2.6E-04 1
rs121913286 0.677 0.280 3 179218306 missense variant C/A;G snv 1
rs397517201 0.732 0.240 3 179218307 missense variant A/C;G;T snv 1
rs759151952 0.925 0.200 7 5987265 frameshift variant G/-;GG delins 7.0E-06 1
rs147394161 0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02 1
rs6788895 0.882 0.080 3 150750021 intron variant G/T snv 0.18 1