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: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs3736234
rs3736234
4 0.851 0.040 12 10160535 non coding transcript exon variant G/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2005 2012
dbSNP: rs974819
rs974819
6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs539179964
rs539179964
3 0.882 0.080 8 104248720 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs4925
rs4925
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2007 2007
dbSNP: rs28937313
rs28937313
3 0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2066714
rs2066714
13 0.742 0.240 9 104824472 missense variant T/C snv 0.21 0.25 0.010 1.000 1 2014 2014
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs2066715
rs2066715
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.040 0.750 4 2003 2018
dbSNP: rs3900940
rs3900940
6 0.827 0.040 3 108428881 missense variant T/A;C snv 4.3E-06; 0.24 0.010 1.000 1 2007 2007
dbSNP: rs2228315
rs2228315
7 0.807 0.120 12 108624122 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2012 2012
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs4773144
rs4773144
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs879254582
rs879254582
4 0.851 0.160 19 11105488 frameshift variant AGCCCCT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs879254693
rs879254693
7 0.807 0.160 19 11107424 missense variant T/A;C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs879254840
rs879254840
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs879254850
rs879254850
9 0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs759003763
rs759003763
6 0.827 0.120 19 11113585 missense variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
dbSNP: rs1249040838
rs1249040838
5 0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003