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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 1.000 14 2008 2018
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2012 2018
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs183686347
rs183686347
5 0.827 0.120 1 67237759 intron variant G/A snv 4.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs80174646
rs80174646
5 0.827 0.120 1 67242472 intron variant G/T snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2009 2018
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.030 1.000 3 2009 2018
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 < 0.001 2 2013 2014
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.020 1.000 2 2012 2018
dbSNP: rs10489630
rs10489630
2 0.925 0.040 1 67196939 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11209008
rs11209008
3 0.882 0.080 1 67157615 intron variant G/A;T snv 5.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs17375018
rs17375018
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2017 2017
dbSNP: rs6693831
rs6693831
1 1.000 0.040 1 67255184 intron variant T/C snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2009 2009
dbSNP: rs76418789
rs76418789
3 0.882 0.080 1 67182913 missense variant G/A snv 7.3E-03 4.5E-03 0.010 1.000 1 2013 2013