Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28989181
rs28989181
BUB1B ; LOC107984763
2 0.925 0.040 15 40212643 missense variant C/T snv 8.0E-06 2.1E-05 0.800 1.000 1 2004 2004
dbSNP: rs28989185
rs28989185
BUB1B ; PAK6 ; BUB1B-PAK6 ; LOC107984763
2 0.925 0.040 15 40220641 missense variant T/C snv 2.8E-05 1.4E-05 0.800 1.000 1 2004 2004
dbSNP: rs28989182
rs28989182
BUB1B ; LOC107984763
1 1.000 0.040 15 40212554 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs28989183
rs28989183
BUB1B ; PAK6 ; BUB1B-PAK6 ; LOC107984763
1 1.000 0.040 15 40217580 missense variant G/C snv 1.4E-04 2.9E-04 0.700 1.000 1 2004 2004
dbSNP: rs28989184
rs28989184
BUB1B ; PAK6 ; BUB1B-PAK6 ; LOC107984763
1 1.000 0.040 15 40217543 missense variant T/C snv 0.700 1.000 1 2004 2004
dbSNP: rs28989187
rs28989187
BUB1B ; LOC107984763
1 1.000 0.040 15 40202609 missense variant G/A snv 1.6E-03 4.8E-04 0.700 1.000 1 2004 2004
dbSNP: rs1166323407
rs1166323407
CEP57
2 0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05 0.700 0
dbSNP: rs1392909108
rs1392909108
BUB1B ; LOC107984763
2 0.925 0.040 15 40209697 frameshift variant -/GTTA delins 4.0E-06 0.700 0
dbSNP: rs1401171363
rs1401171363
BUB1B ; LOC107984763
1 1.000 0.040 15 40206403 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1555052278
rs1555052278
CEP57
1 1.000 0.040 11 95821895 frameshift variant A/- del 0.700 0
dbSNP: rs1566824608
rs1566824608
BUB1B ; LOC107984763
1 1.000 0.040 15 40199713 stop gained A/T snv 0.700 0
dbSNP: rs1566824771
rs1566824771
BUB1B ; LOC107984763
2 0.925 0.040 15 40200239 splice region variant A/G snv 0.700 0
dbSNP: rs1566824774
rs1566824774
BUB1B ; LOC107984763
2 0.925 0.040 15 40200243 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1566826570
rs1566826570
BUB1B ; LOC107984763
2 0.925 0.040 15 40206280 frameshift variant T/- delins 0.700 0
dbSNP: rs28989186
rs28989186
BUB1B ; LOC107984763
2 0.925 0.040 15 40176672 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs750364303
rs750364303
BUB1B ; LOC107984763
1 1.000 0.040 15 40210133 stop gained C/T snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs751421137
rs751421137
BUB1B ; LOC107984763
2 0.925 0.040 15 40212488 intron variant A/G snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs759242053
rs759242053
BUB1B ; LOC107984763
1 1.000 0.040 15 40209701 stop gained T/G snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs767213728
rs767213728
BUB1B ; LOC107984763
1 1.000 0.040 15 40202608 stop gained C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs769350713
rs769350713
BUB1B
1 1.000 0.040 15 40170637 stop gained C/T snv 1.6E-05 0.700 0