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: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.100 0.917 12 2016 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.080 0.875 8 2010 2014
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2013 2016
dbSNP: rs1420472625
rs1420472625
2 0.925 0.040 19 54178800 missense variant G/C snv 0.040 1.000 4 2016 2018
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2015 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 1.000 4 2015 2020
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.720 0.667 3 2011 2016
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 0.667 3 2008 2016
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2019
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2013 2013
dbSNP: rs2276736
rs2276736
1 1.000 0.040 3 148708086 intron variant A/G;T snv 0.020 1.000 2 2009 2013
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.810 1.000 2 2010 2015
dbSNP: rs3772622
rs3772622
4 0.851 0.080 3 148717966 intron variant T/A;C snv 0.020 1.000 2 2013 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2014 2016
dbSNP: rs5764455
rs5764455
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1057156731
rs1057156731
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10750097
rs10750097
6 1.000 0.040 11 116793324 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1131580
rs1131580
4 0.882 0.160 3 172505830 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs12565406
rs12565406
1 1.000 0.040 1 209687741 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1292932521
rs1292932521
1 1.000 0.040 22 18517476 missense variant C/T snv 0.010 1.000 1 2019 2019