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: rs747851434
rs747851434
2 0.925 0.120 16 89745026 frameshift variant -/C delins 1.2E-05 2.8E-05 0.700 1.000 1 2008 2008
dbSNP: rs794726660
rs794726660
1 1.000 0.120 16 89742841 frameshift variant GTTTT/- delins 0.700 1.000 1 2004 2004
dbSNP: rs797045175
rs797045175
3 0.882 0.120 17 43095919 splice acceptor variant ACAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1348367722
rs1348367722
1 1.000 0.120 16 89799192 frameshift variant -/GACT delins 4.0E-06 0.700 0
dbSNP: rs1555532944
rs1555532944
1 1.000 0.120 16 89738880 frameshift variant -/C delins 0.700 0
dbSNP: rs1555532946
rs1555532946
1 1.000 0.120 16 89738884 frameshift variant -/T delins 0.700 0
dbSNP: rs1555534060
rs1555534060
1 1.000 0.120 16 89740037 frameshift variant -/T delins 0.700 0
dbSNP: rs1555536361
rs1555536361
1 1.000 0.120 16 89744972 frameshift variant GGCC/- delins 0.700 0
dbSNP: rs1555537347
rs1555537347
1 1.000 0.120 16 89746836 frameshift variant -/G delins 0.700 0
dbSNP: rs1555540048
rs1555540048
1 1.000 0.120 16 89752211 frameshift variant AACT/- delins 0.700 0
dbSNP: rs1555545421
rs1555545421
1 1.000 0.120 16 89764899 frameshift variant CTCTTTC/- delins 0.700 0
dbSNP: rs1555545517
rs1555545517
1 1.000 0.120 16 89765001 frameshift variant G/- delins 0.700 0
dbSNP: rs1555547935
rs1555547935
1 1.000 0.120 16 89770604 frameshift variant AGAAAGAC/- delins 0.700 0
dbSNP: rs1555552006
rs1555552006
1 1.000 0.120 16 89778826 frameshift variant -/CGGGA delins 0.700 0
dbSNP: rs1555554788
rs1555554788
1 1.000 0.120 16 89783096 frameshift variant TG/- delins 0.700 0
dbSNP: rs1555574913
rs1555574913
1 1.000 0.120 16 89810715 frameshift variant -/C delins 0.700 0
dbSNP: rs1564719070
rs1564719070
2 0.925 0.120 9 95171081 frameshift variant C/- delins 0.700 0
dbSNP: rs1567593047
rs1567593047
1 1.000 0.120 16 89739243 frameshift variant -/G delins 0.700 0
dbSNP: rs754104046
rs754104046
1 1.000 0.120 16 89771740 frameshift variant -/GCTGCTG delins 0.700 0
dbSNP: rs756367276
rs756367276
2 0.925 0.120 16 89761961 frameshift variant -/A delins 2.1E-05 0.700 0
dbSNP: rs764122657
rs764122657
2 0.925 0.120 16 89795995 frameshift variant GT/- delins 1.4E-05 0.700 0
dbSNP: rs778507965
rs778507965
1 1.000 0.120 16 89782870 frameshift variant C/- delins 4.0E-05 1.4E-05 0.700 0
dbSNP: rs779375100
rs779375100
1 1.000 0.120 16 89775797 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs797045570
rs797045570
1 1.000 0.120 16 89799596 splice donor variant ACTTA/- delins 0.700 0
dbSNP: rs574034197
rs574034197
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.800 1.000 17 1997 2015