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: rs10475878
rs10475878
1 1.000 5 168363199 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs12678719
rs12678719
2 1.000 8 105503826 intron variant C/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.010 1.000 1 2007 2007
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2016 2016
dbSNP: rs7311174
rs7311174
1 1.000 12 6526401 intron variant A/T snv 0.75 0.79 0.010 1.000 1 2014 2014
dbSNP: rs797906
rs797906
2 0.925 0.040 1 53725022 intron variant C/A;T snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs894278
rs894278
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 1.000 19 2005 2019
dbSNP: rs150562946
rs150562946
3 0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04 0.700 1.000 4 2003 2018
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.040 1.000 4 2011 2015
dbSNP: rs34424986
rs34424986
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.700 1.000 4 2003 2018
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.700 1.000 4 2003 2018
dbSNP: rs72480422
rs72480422
2 0.925 0.040 6 161785805 missense variant C/A;T snv 4.0E-06; 1.6E-04 0.700 1.000 4 2003 2018
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2003 2017
dbSNP: rs145242123
rs145242123
1 1.000 3 132522838 missense variant C/A;T snv 4.1E-06; 1.5E-03 0.700 1.000 2 2014 2015
dbSNP: rs146930051
rs146930051
1 1.000 3 132467269 missense variant G/T snv 2.0E-05 4.2E-05 0.700 1.000 2 2014 2015
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.710 1.000 2 2007 2016
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2015
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs11564148
rs11564148
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 1.000 1 2017 2017
dbSNP: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs1272596579
rs1272596579
1 1.000 20 5112983 missense variant C/A;T snv 6.7E-06; 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1375532403
rs1375532403
2 0.925 0.040 19 48230930 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs144863268
rs144863268
1 1.000 12 50992234 missense variant G/T snv 2.2E-03 1.9E-03 0.010 1.000 1 2011 2011