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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 20 2006 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.080 1.000 8 2009 2016
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: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.040 1.000 4 2013 2016
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: rs4975616
rs4975616
12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.020 1.000 2 2010 2013
dbSNP: rs10503380
rs10503380
2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
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: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs11134527
rs11134527
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs112290073
rs112290073
4 0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs11466345
rs11466345
2 1.000 0.080 19 41337556 intron variant T/C snv 0.12 0.010 1.000 1 2008 2008