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: rs11233250
rs11233250
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1135401891
rs1135401891
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs11670188
rs11670188
2 0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs11860248
rs11860248
5 0.882 0.040 16 24566445 intron variant T/G snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1205454520
rs1205454520
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1210653597
rs1210653597
2 0.925 0.120 9 21968756 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs121909218
rs121909218
25 0.672 0.360 10 87933145 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs12230172
rs12230172
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1249080185
rs1249080185
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1259560536
rs1259560536
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12645561
rs12645561
3 0.882 0.120 4 177339718 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12752552
rs12752552
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12885300
rs12885300
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2019 2019
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: rs13332653
rs13332653
3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1340827343
rs1340827343
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1346787
rs1346787
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1381537616
rs1381537616
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2017 2017