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: rs1135401732
rs1135401732
1 1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401734
rs1135401734
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs375108991
rs375108991
1 1.000 0.040 9 35092599 stop gained G/A;C snv 2.8E-05 4.9E-05 0.010 1.000 1 2014 2014
dbSNP: rs375818497
rs375818497
1 1.000 0.040 16 29813554 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503940
rs727503940
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs764159748
rs764159748
1 1.000 0.040 9 35092602 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs769074339
rs769074339
1 1.000 0.040 1 26797650 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs775162839
rs775162839
1 1.000 0.040 4 39505705 missense variant C/T snv 4.8E-05 5.6E-05 0.700 1.000 1 2020 2020
dbSNP: rs779453109
rs779453109
1 1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs796053174
rs796053174
1 1.000 0.040 2 165310515 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518795
rs1057518795
1 1.000 0.040 16 78432614 frameshift variant G/- del 0.700 0
dbSNP: rs1057518816
rs1057518816
1 1.000 0.040 11 72195389 missense variant G/A snv 0.700 0
dbSNP: rs1057518985
rs1057518985
1 1.000 0.040 9 127673233 missense variant C/A;T snv 0.700 0
dbSNP: rs1057519000
rs1057519000
1 1.000 0.040 X 48905400 frameshift variant CACTGCAGCC/- delins 0.700 0
dbSNP: rs1057519452
rs1057519452
1 1.000 0.040 3 49115756 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057519529
rs1057519529
1 1.000 0.040 2 166043864 missense variant C/G snv 0.700 0
dbSNP: rs1057519537
rs1057519537
1 1.000 0.040 9 127682423 stop gained G/A snv 0.700 0
dbSNP: rs1057519538
rs1057519538
1 1.000 0.040 9 127651622 inframe deletion AAA/- del 0.700 0
dbSNP: rs1057519539
rs1057519539
1 1.000 0.040 9 127678479 stop gained G/A;T snv 0.700 0
dbSNP: rs1057519542
rs1057519542
1 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0
dbSNP: rs1057519545
rs1057519545
1 1.000 0.040 6 33435225 missense variant G/C snv 0.700 0
dbSNP: rs1179351306
rs1179351306
1 1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1485894376
rs1485894376
1 1.000 0.040 3 50375876 missense variant C/G;T snv 0.700 0
dbSNP: rs1555850842
rs1555850842
1 1.000 0.040 20 63407136 frameshift variant -/G delins 0.700 0
dbSNP: rs1555889090
rs1555889090
1 1.000 0.040 20 49374416 missense variant C/G;T snv 0.700 0