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: rs1085307114
rs1085307114
1 1.000 0.080 1 11157255 missense variant A/C snv 0.800 0
dbSNP: rs1057519914
rs1057519914
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 4 2015 2016
dbSNP: rs1057519779
rs1057519779
2 0.925 0.200 1 11157242 missense variant A/G snv 0.800 0
dbSNP: rs1085307113
rs1085307113
1 1.000 0.080 1 11114338 missense variant A/G;T snv 0.810 1.000 1 2015 2015
dbSNP: rs1567437155
rs1567437155
3 0.882 0.200 16 2064286 frameshift variant C/- del 0.700 0
dbSNP: rs45469298
rs45469298
5 0.851 0.200 16 2070570 missense variant C/G;T snv 0.700 0
dbSNP: rs45517179
rs45517179
3 0.882 0.200 16 2064341 stop gained C/G;T snv 0.700 0
dbSNP: rs45517412
rs45517412
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 0
dbSNP: rs587777895
rs587777895
1 1.000 0.080 1 11139308 missense variant C/T snv 8.2E-06 2.1E-05 0.700 1.000 4 2015 2016
dbSNP: rs45517222
rs45517222
3 0.882 0.200 16 2072879 stop gained C/T snv 0.700 0
dbSNP: rs913197212
rs913197212
1 1.000 0.080 1 11238533 missense variant C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs1060505021
rs1060505021
1 1.000 0.080 9 132921872 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1229729609
rs1229729609
1 1.000 0.080 1 9715706 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs745895675
rs745895675
1 1.000 0.080 16 2085299 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs749030456
rs749030456
1 1.000 0.080 9 132928809 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 1 2017 2017
dbSNP: rs118203427
rs118203427
3 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0
dbSNP: rs118203542
rs118203542
4 0.851 0.200 9 132906053 stop gained G/A snv 0.700 0
dbSNP: rs118203631
rs118203631
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 0
dbSNP: rs1567387207
rs1567387207
3 0.882 0.200 16 2050487 splice donor variant G/A snv 0.700 0
dbSNP: rs28934872
rs28934872
5 0.851 0.200 16 2070571 missense variant G/A snv 0.700 0
dbSNP: rs45517395
rs45517395
4 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.800 1.000 4 2015 2016
dbSNP: rs587777894
rs587777894
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.800 1.000 4 2015 2016
dbSNP: rs1131691965
rs1131691965
3 0.882 0.200 16 2074394 splice region variant G/C snv 0.700 0
dbSNP: rs1564488264
rs1564488264
3 0.882 0.200 9 132911110 frameshift variant T/- del 0.700 0