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: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2014 2014
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1306185959
rs1306185959
4 0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs375391381
rs375391381
4 0.851 0.040 15 43883735 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs1373481065
rs1373481065
6 0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2010 2018
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.030 1.000 3 2016 2017
dbSNP: rs1381537616
rs1381537616
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 1.000 18 2011 2019
dbSNP: rs11554137
rs11554137
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.050 0.800 5 2013 2017
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2007 2007
dbSNP: rs1805015
rs1805015
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 1.000 1 2007 2007
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs4644
rs4644
14 0.732 0.320 14 55138217 missense variant C/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs4652
rs4652
12 0.752 0.200 14 55138318 missense variant A/C snv 4.1E-06; 0.45 0.57 0.010 1.000 1 2019 2019
dbSNP: rs865880036
rs865880036
5 0.827 0.040 15 37098156 missense variant A/C snv 1.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs63750949
rs63750949
6 0.827 0.080 2 47806213 missense variant C/A;T snv 0.010 1.000 1 2009 2009