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: rs534297115
rs534297115
BUB1B
1 1.000 15 40165124 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1392909108
rs1392909108
BUB1B ; LOC107984763
2 0.925 0.040 15 40209697 frameshift variant -/GTTA delins 4.0E-06 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: rs28989181
rs28989181
BUB1B ; LOC107984763
2 0.925 0.040 15 40212643 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
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 0.700 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: 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: rs6295
rs6295
HTR1A
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2014 2014