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: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2003 2003
dbSNP: rs363050
rs363050
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2004 2004
dbSNP: rs10903323
rs10903323
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs2230808
rs2230808
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008
dbSNP: rs33918808
rs33918808
1 1.000 0.040 9 104817351 missense variant C/G;T snv 3.5E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2008 2008
dbSNP: rs138880920
rs138880920
1 1.000 0.040 9 104826957 missense variant C/G snv 3.3E-03 1.8E-03 0.010 1.000 1 2005 2005
dbSNP: rs2066718
rs2066718
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs6993770
rs6993770
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs567798234
rs567798234
5 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs752596535
rs752596535
14 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs544456198
rs544456198
9 0.790 0.120 19 11116930 missense variant G/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2003 2003
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2002 2018
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1144507
rs1144507
2 0.925 0.080 11 123729767 missense variant A/C;G;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017