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: rs756367276
rs756367276
2 0.925 0.120 16 89761961 frameshift variant -/A delins 2.1E-05 0.700 0
dbSNP: rs1555547955
rs1555547955
1 1.000 0.120 16 89770613 frameshift variant -/C delins 0.700 1.000 1 2000 2000
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: rs1555532944
rs1555532944
1 1.000 0.120 16 89738880 frameshift variant -/C delins 0.700 0
dbSNP: rs1555574913
rs1555574913
1 1.000 0.120 16 89810715 frameshift variant -/C delins 0.700 0
dbSNP: rs1555552006
rs1555552006
1 1.000 0.120 16 89778826 frameshift variant -/CGGGA delins 0.700 0
dbSNP: rs1555575253
rs1555575253
1 1.000 0.120 16 89810953 frameshift variant -/G delins 0.700 1.000 1 1997 1997
dbSNP: rs1555537347
rs1555537347
1 1.000 0.120 16 89746836 frameshift variant -/G delins 0.700 0
dbSNP: rs1567593047
rs1567593047
1 1.000 0.120 16 89739243 frameshift variant -/G delins 0.700 0
dbSNP: rs779375100
rs779375100
1 1.000 0.120 16 89775797 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs1348367722
rs1348367722
1 1.000 0.120 16 89799192 frameshift variant -/GACT delins 4.0E-06 0.700 0
dbSNP: rs754104046
rs754104046
1 1.000 0.120 16 89771740 frameshift variant -/GCTGCTG delins 0.700 0
dbSNP: rs1555534521
rs1555534521
1 1.000 0.120 16 89740818 frameshift variant -/T delins 0.700 1.000 2 2005 2018
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: rs1283284704
rs1283284704
1 1.000 0.120 16 89761970 stop gained -/TCAGGTTGAATTTCCAGCT delins 4.0E-06 2.1E-05 0.700 1.000 4 1997 2015
dbSNP: rs1205909298
rs1205909298
1 1.000 0.120 16 89767218 frameshift variant A/- delins 7.0E-06 0.700 1.000 3 1997 2009
dbSNP: rs1555535527
rs1555535527
1 1.000 0.120 16 89742869 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs753830492
rs753830492
1 1.000 0.120 3 10063808 frameshift variant A/- del 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs587776570
rs587776570
1 1.000 0.120 16 89782879 frameshift variant A/- del 0.700 0
dbSNP: rs374030577
rs374030577
1 1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs986710868
rs986710868
1 1.000 0.120 16 89740044 stop gained A/C;T snv 4.0E-06 0.700 1.000 2 1997 2013
dbSNP: rs878853665
rs878853665
1 1.000 0.120 16 89740024 missense variant A/G snv 0.700 1.000 11 1997 2009
dbSNP: rs1555534579
rs1555534579
1 1.000 0.120 16 89740848 missense variant A/G snv 0.700 1.000 9 1997 2008
dbSNP: rs1173704265
rs1173704265
1 1.000 0.120 16 89767208 missense variant A/G snv 7.0E-06 0.700 1.000 4 1997 2012