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: rs121909674
rs121909674
8 0.790 0.080 5 162153132 stop gained C/T snv 0.030 1.000 3 2015 2017
dbSNP: rs1392120633
rs1392120633
2 1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06 0.020 1.000 2 2019 2020
dbSNP: rs587777308
rs587777308
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs796053228
rs796053228
4 0.882 0.160 12 51807100 missense variant C/G;T snv 0.720 1.000 2 2019 2020
dbSNP: rs1043614377
rs1043614377
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104894629
rs104894629
2 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057518801
rs1057518801
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1060499553
rs1060499553
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs1135401733
rs1135401733
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs121909323
rs121909323
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121917750
rs121917750
2 0.925 0.080 2 165386881 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1555703272
rs1555703272
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs202151337
rs202151337
4 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
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: rs387906685
rs387906685
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs397514737
rs397514737
4 0.882 0.080 5 162149153 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs397518447
rs397518447
2 0.925 0.040 16 9829585 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs587777164
rs587777164
3 0.882 0.080 14 62950522 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs727503940
rs727503940
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs727503973
rs727503973
2 0.925 0.040 20 63439665 missense variant G/A;T snv 0.010 1.000 1 2019 2019