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: rs2030323
rs2030323
6 0.925 0.080 11 27706992 intron variant A/C snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs406113
rs406113
3 0.882 0.160 6 28515705 missense variant A/C snv 0.38 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2018 2018
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 2000 2015
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs274609
rs274609
1 1.000 0.080 1 74504631 intron variant A/G snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs445870
rs445870
1 1.000 0.080 6 28526550 intron variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs757228
rs757228
2 0.925 0.120 19 1101993 upstream gene variant A/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs8103188
rs8103188
1 1.000 0.080 19 1103466 upstream gene variant A/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs854566
rs854566
2 0.925 0.080 7 95319437 intron variant A/G snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs3746619
rs3746619
3 0.925 0.200 20 56248749 5 prime UTR variant C/A snv 0.14 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2796749
rs2796749
2 0.925 0.080 6 110873500 upstream gene variant C/A;G snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1319501
rs1319501
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 1.000 3 2009 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2009 2016
dbSNP: rs2535633
rs2535633
4 1.000 0.080 3 52825614 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs7069102
rs7069102
10 0.790 0.440 10 67903362 intron variant C/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs2285053
rs2285053
15 0.752 0.320 16 55478465 intron variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013