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: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.040 1.000 4 2016 2019
dbSNP: rs10903035
rs10903035
2 1.000 0.080 1 24155450 3 prime UTR variant G/A snv 0.63 0.030 1.000 3 2011 2014
dbSNP: rs117648444
rs117648444
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.030 1.000 3 2017 2019
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.030 0.667 3 2011 2019
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.030 1.000 3 2011 2013
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: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.030 1.000 3 2014 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2013 2018
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: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.030 1.000 3 2014 2018
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.030 1.000 3 2014 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.030 1.000 3 2012 2016
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: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 1.000 2 2015 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: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.020 1.000 2 2013 2019
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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.020 1.000 2 2008 2011
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.020 1.000 2 2013 2017