Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1392909108
BUB1B ; LOC107984763
0.925 0.040 15 40209697 frameshift variant -/GTTA delins 4.0E-06 2
rs1566824774
BUB1B ; LOC107984763
0.925 0.040 15 40200243 splice acceptor variant G/T snv 2
rs1566826570
BUB1B ; LOC107984763
0.925 0.040 15 40206280 frameshift variant T/- delins 2
rs28989186
BUB1B ; LOC107984763
0.925 0.040 15 40176672 stop gained C/T snv 8.0E-06 7.0E-06 2
rs1166323407
CEP57
0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05 2
rs1566824771
LOC107984763 ; BUB1B
0.925 0.040 15 40200239 splice region variant A/G snv 2
rs28989181
LOC107984763 ; BUB1B
0.925 0.040 15 40212643 missense variant C/T snv 8.0E-06 2.1E-05 2
rs751421137
LOC107984763 ; BUB1B
0.925 0.040 15 40212488 intron variant A/G snv 2.0E-05 2.8E-05 2
rs28989185
LOC107984763 ; PAK6 ; BUB1B ; BUB1B-PAK6
0.925 0.040 15 40220641 missense variant T/C snv 2.8E-05 1.4E-05 2
rs769350713
BUB1B
1.000 0.040 15 40170637 stop gained C/T snv 1.6E-05 1
rs28989182
BUB1B ; LOC107984763
1.000 0.040 15 40212554 missense variant G/A snv 8.0E-06 1.4E-05 1
rs28989187
BUB1B ; LOC107984763
1.000 0.040 15 40202609 missense variant G/A snv 1.6E-03 4.8E-04 1
rs767213728
BUB1B ; LOC107984763
1.000 0.040 15 40202608 stop gained C/T snv 4.0E-06 2.1E-05 1
rs1555052278
CEP57
1.000 0.040 11 95821895 frameshift variant A/- del 1
rs1401171363
LOC107984763 ; BUB1B
1.000 0.040 15 40206403 stop gained C/T snv 4.0E-06 1
rs1566824608
LOC107984763 ; BUB1B
1.000 0.040 15 40199713 stop gained A/T snv 1
rs750364303
LOC107984763 ; BUB1B
1.000 0.040 15 40210133 stop gained C/T snv 2.0E-05 7.0E-06 1
rs759242053
LOC107984763 ; BUB1B
1.000 0.040 15 40209701 stop gained T/G snv 2.8E-05 3.5E-05 1
rs28989183
LOC107984763 ; BUB1B-PAK6 ; PAK6 ; BUB1B
1.000 0.040 15 40217580 missense variant G/C snv 1.4E-04 2.9E-04 1
rs28989184
PAK6 ; BUB1B-PAK6 ; BUB1B ; LOC107984763
1.000 0.040 15 40217543 missense variant T/C snv 1