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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.100 1.000 18 2014 2019
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.100 0.900 10 2011 2018
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.070 1.000 7 2009 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.050 1.000 5 2007 2019
dbSNP: rs142346548
rs142346548
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.030 1.000 3 2017 2019
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.030 1.000 3 2011 2018
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2014 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.030 1.000 3 2016 2019
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.030 0.667 3 2016 2019
dbSNP: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.020 1.000 2 2013 2015
dbSNP: rs10833
rs10833
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.020 1.000 2 2016 2017
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.020 0.500 2 2011 2012
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.020 1.000 2 2013 2017
dbSNP: rs179009
rs179009
2 0.925 0.160 X 12885361 intron variant A/G;T snv 0.020 1.000 2 2014 2014
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2009 2019
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2014 2017
dbSNP: rs3741981
rs3741981
3 0.882 0.120 12 112911065 missense variant G/A;C snv 0.020 1.000 2 2013 2015
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs74597329
rs74597329
1 1.000 0.080 19 39248515 missense variant T/A;G snv 0.22 0.700 1.000 2 2019 2019
dbSNP: rs780829437
rs780829437
2 0.925 0.120 9 21367799 missense variant T/A;C snv 4.4E-06; 8.8E-06 0.020 1.000 2 2014 2015
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.020 1.000 2 2013 2016
dbSNP: rs1034713634
rs1034713634
1 1.000 0.080 3 42536097 missense variant C/A;T snv 0.010 1.000 1 2014 2014