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: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs11466617
rs11466617
2 1.000 0.040 4 38778850 intron variant T/C snv 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs11567764
rs11567764
1 1.000 0.040 5 35873503 missense variant G/A;T snv 9.5E-03; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs11774633
rs11774633
1 1.000 0.040 8 130177997 intron variant C/T snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1242137541
rs1242137541
1 1.000 0.040 10 17853040 synonymous variant C/T snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs2227251
rs2227251
1 1.000 0.040 2 218401700 synonymous variant C/A;T snv 0.25 0.010 < 0.001 1 2002 2002
dbSNP: rs2227255
rs2227255
1 1.000 0.040 2 218403058 synonymous variant C/T snv 0.57 0.46 0.010 < 0.001 1 2002 2002
dbSNP: rs2723186
rs2723186
2 0.925 0.160 2 112917503 intron variant A/G;T snv 0.91 0.010 < 0.001 1 2016 2016
dbSNP: rs2723187
rs2723187
2 1.000 0.040 2 112917692 missense variant C/T snv 6.8E-02 1.0E-01 0.010 < 0.001 1 2016 2016
dbSNP: rs4853542
rs4853542
1 1.000 0.040 2 191111876 intron variant A/G snv 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs4859843
rs4859843
1 1.000 0.040 4 77439033 intron variant T/C;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4859846
rs4859846
1 1.000 0.040 4 77439174 intron variant G/A snv 0.19 0.010 < 0.001 1 2017 2017
dbSNP: rs56251346
rs56251346
1 1.000 0.040 6 137199749 intron variant C/T snv 0.20 0.010 < 0.001 1 2015 2015
dbSNP: rs71497225
rs71497225
1 1.000 0.040 10 17849736 missense variant G/A;C;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs72553867
rs72553867
2 0.925 0.080 5 150848404 missense variant C/A;T snv 4.9E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs7932766
rs7932766
2 0.925 0.080 11 126292967 synonymous variant C/T snv 0.18 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs8064821
rs8064821
6 0.851 0.120 17 78361310 intron variant C/A snv 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs9376267
rs9376267
2 0.925 0.080 6 137209894 5 prime UTR variant C/T snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs9376268
rs9376268
2 0.925 0.080 6 137211614 intron variant G/A snv 0.20 0.010 < 0.001 1 2015 2015
dbSNP: rs9376269
rs9376269
1 1.000 0.040 6 137218368 intron variant C/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs10956514
rs10956514
1 1.000 0.040 8 130240512 intron variant A/G snv 0.37 0.040 0.250 4 2015 2018
dbSNP: rs3811047
rs3811047
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.020 0.500 2 2016 2017
dbSNP: rs9272785
rs9272785
3 0.882 0.080 6 32642624 missense variant G/A snv 0.18 8.7E-02 0.020 0.500 2 2016 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.050 0.600 5 2013 2017