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: rs786205134
rs786205134
3 0.925 0.160 11 111840653 splice donor variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518783
rs1057518783
1 16 2110081 stop gained G/A snv 0.700 0
dbSNP: rs1057518797
rs1057518797
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1057518899
rs1057518899
2 16 2111647 stop gained G/A snv 0.700 0
dbSNP: rs1057518906
rs1057518906
1 4 88007878 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1057518952
rs1057518952
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518959
rs1057518959
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1057518969
rs1057518969
3 4 88036325 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057518976
rs1057518976
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs1286585831
rs1286585831
2 1.000 0.120 16 2117844 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs137852944
rs137852944
5 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0
dbSNP: rs137854521
rs137854521
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1553827236
rs1553827236
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs1553927823
rs1553927823
3 0.925 0.240 4 88065804 frameshift variant TACG/- delins 0.700 0
dbSNP: rs1555444249
rs1555444249
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555446033
rs1555446033
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs1555448106
rs1555448106
2 1.000 0.120 16 2097160 frameshift variant A/- del 0.700 0
dbSNP: rs1555450475
rs1555450475
2 1.000 0.120 16 2102583 frameshift variant -/G delins 0.700 0
dbSNP: rs1555452400
rs1555452400
2 1.000 0.120 16 2105412 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555452653
rs1555452653
1 16 2105909 frameshift variant -/C delins 0.700 0
dbSNP: rs1555452876
rs1555452876
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1555454847
rs1555454847
4 0.882 0.240 16 2109266 inframe deletion CAC/- delins 0.700 0
dbSNP: rs1555454915
rs1555454915
2 1.000 0.120 16 2109358 frameshift variant A/- del 0.700 0
dbSNP: rs1555459345
rs1555459345
3 1.000 0.040 16 2119114 missense variant A/G snv 0.700 0