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: rs75462234
rs75462234
4 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 0
dbSNP: rs1131692055
rs1131692055
2 0.925 0.080 10 100781314 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs753350907
rs753350907
5 0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121434395
rs121434395
2 0.925 0.080 11 101453062 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs779430565
rs779430565
3 0.882 0.080 11 101504316 missense variant T/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs121434390
rs121434390
2 0.925 0.080 11 101504634 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs3802829
rs3802829
2 0.925 0.080 11 101583461 missense variant G/A snv 8.2E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1186292917
rs1186292917
1 1.000 0.080 14 104703420 frameshift variant GC/- delins 0.010 1.000 1 2018 2018
dbSNP: rs267606879
rs267606879
2 0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs530391015
rs530391015
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs754313620
rs754313620
2 0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397518473
rs397518473
1 1.000 0.080 X 111687924 missense variant AC/TT mnv 0.010 < 0.001 1 2017 2017
dbSNP: rs761613959
rs761613959
4 0.851 0.080 1 155187356 stop gained G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs267607555
rs267607555
6 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs748203170
rs748203170
1 1.000 0.080 1 179551346 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.090 0.778 9 2002 2018
dbSNP: rs530318579
rs530318579
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs74315342
rs74315342
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2007 2007
dbSNP: rs74315344
rs74315344
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs920479356
rs920479356
1 1.000 0.080 1 179575836 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs748106387
rs748106387
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0