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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 0.941 34 2005 2020
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.941 34 2005 2020
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.941 34 2005 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 20 2006 2019
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.080 1.000 8 2007 2016
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.070 1.000 7 2012 2020
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.050 1.000 5 2006 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.040 1.000 4 2016 2018
dbSNP: rs1060503115
rs1060503115
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.030 1.000 3 2011 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.020 1.000 2 2016 2016
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.020 1.000 2 2014 2016
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.020 1.000 2 2013 2014
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2007 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2014 2018
dbSNP: rs754332870
rs754332870
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs759435862
rs759435862
5 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 0.020 1.000 2 2011 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2006 2006
dbSNP: rs1057519696
rs1057519696
ALK
5 1.000 0.040 2 29214054 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519816
rs1057519816
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2020 2020