Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2824215 21 17063088 intergenic variant A/C snv 0.34 1
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv 14
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 12
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs773632957 19 45368650 missense variant T/G snv 1
rs983889 5 15555377 intron variant G/T snv 0.55 1
rs2232365 0.716 0.480 X 49259429 intron variant T/C snv 16
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs774690269
LSM3 ; XPC
3 14178562 missense variant G/A;C snv 1.2E-05 1
rs1024708183 0.925 0.040 19 7909761 missense variant A/G snv 4
rs1372047743 8 47960120 missense variant C/T snv 9.7E-06 3
rs1383997 8 72005483 intron variant T/C snv 0.58 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs3087468 16 2040233 missense variant C/A snv 3