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: 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: rs2241423
rs2241423
7 0.882 0.120 15 67794500 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs2273773
rs2273773
9 0.790 0.360 10 67906841 synonymous variant T/C snv 0.11 7.1E-02 0.010 1.000 1 2015 2015
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
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
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: rs274609
rs274609
1 1.000 0.080 1 74504631 intron variant A/G snv 0.67 0.010 1.000 1 2019 2019
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: rs2943650
rs2943650
6 0.827 0.120 2 226241205 intergenic variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs324419
rs324419
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2010 2010
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: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
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: rs3801266
rs3801266
3 0.925 0.080 7 106283804 intron variant T/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3827103
rs3827103
2 0.925 0.200 20 56248973 missense variant G/A snv 0.14 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2015 2015
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: rs445870
rs445870
1 1.000 0.080 6 28526550 intron variant A/G snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs4704397
rs4704397
13 0.807 0.200 5 77222617 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs52804924
rs52804924
2 0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs6234
rs6234
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs659366
rs659366
17 0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2007 2007