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: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.050 1.000 5 2012 2015
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.040 0.750 4 2012 2016
dbSNP: rs2145418
rs2145418
3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs6013897
rs6013897
7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs907580
rs907580
4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638
7 0.851 0.080 3 52403251 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.988 83 2003 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.987 79 2003 2020
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.710 1.000 2 2016 2016
dbSNP: rs121913365
rs121913365
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs747463591
rs747463591
3 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2018 2018
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
dbSNP: rs778212685
rs778212685
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs786203472
rs786203472
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs863224748
rs863224748
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs78929565
rs78929565
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2060793
rs2060793
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs373646414
rs373646414
2 1.000 0.080 14 95132574 missense variant T/C snv 1.6E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs966423
rs966423
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.020 1.000 2 2012 2013
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.020 0.500 2 2013 2017