Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852803 1.000 2 174750143 missense variant C/A;G;T snv 2.8E-05; 4.0E-06; 8.0E-06 2
rs137852832 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs137852863 0.882 0.120 5 61073136 stop gained C/T snv 4.0E-05 3.5E-05 5
rs137853043 1.000 0.240 12 49185576 missense variant G/A;C snv 2
rs137853049 1.000 0.240 12 49185102 missense variant G/A snv 2
rs137853105 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs137853252 1.000 0.040 X 19358920 missense variant C/T snv 2
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins 3
rs1382444181 1.000 17 76733070 frameshift variant G/- delins 8.3E-06 7.0E-06 2
rs138632121 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 13
rs139751598 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 13
rs140119177 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 7
rs141138948 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs141760116 0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06 3
rs141949212 0.882 0.160 15 27845052 missense variant C/T snv 4.0E-05 2.0E-04 5
rs141970897 0.925 0.200 9 129104269 missense variant T/C snv 1.1E-03 7.8E-04 8
rs142209254 1 113896423 stop gained T/A;G snv 4.0E-06; 4.0E-06 1
rs142684762 1.000 16 57659478 missense variant A/G snv 3
rs1426926688 1.000 9 131038920 frameshift variant AGCACAG/- del 8.0E-06 1.4E-05 2
rs1429181351 0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs1431337923 10 117255595 splice region variant AG/- delins 4.0E-06 1
rs143657539 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 2
rs1448259271 0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1462161137 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 3