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: rs587777420
rs587777420
2 0.925 0.040 12 8089982 stop gained C/T snv 7.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs121917927
rs121917927
2 0.925 0.040 2 166046969 missense variant C/G;T snv 0.700 1.000 8 2003 2015
dbSNP: rs794726718
rs794726718
4 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 1.000 8 2002 2017
dbSNP: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 7 2013 2017
dbSNP: rs121917953
rs121917953
4 0.851 0.080 2 166054677 missense variant T/A snv 0.700 1.000 7 2001 2015
dbSNP: rs121918788
rs121918788
2 0.925 0.040 2 166037931 missense variant G/A snv 0.700 1.000 7 2002 2017
dbSNP: rs587777057
rs587777057
8 0.827 0.040 16 56336744 missense variant G/A snv 0.700 1.000 6 2013 2017
dbSNP: rs794727740
rs794727740
3 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 1.000 6 2012 2017
dbSNP: rs1057516098
rs1057516098
2 0.925 0.040 20 63439657 missense variant C/T snv 0.700 1.000 5 2012 2017
dbSNP: rs1057523858
rs1057523858
2 0.925 0.040 2 166047647 missense variant A/T snv 0.700 1.000 5 2009 2015
dbSNP: rs121917984
rs121917984
8 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 1.000 5 2007 2015
dbSNP: rs397514581
rs397514581
3 0.882 0.040 20 63444711 missense variant C/T snv 0.700 1.000 5 2012 2016
dbSNP: rs727503974
rs727503974
2 0.925 0.040 20 63439704 missense variant G/A snv 0.700 1.000 5 2012 2017
dbSNP: rs886041262
rs886041262
6 0.851 0.080 20 63444720 missense variant C/G;T snv 0.700 1.000 5 2013 2017
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 1.000 4 2016 2017
dbSNP: rs1553520227
rs1553520227
1 1.000 0.040 2 165992006 missense variant C/G snv 0.700 1.000 4 2009 2016
dbSNP: rs74315391
rs74315391
6 0.827 0.120 20 63444730 missense variant G/A snv 0.700 1.000 4 2001 2014
dbSNP: rs796053355
rs796053355
2 0.925 0.040 9 127663343 missense variant C/T snv 0.700 1.000 4 2013 2015
dbSNP: rs886041246
rs886041246
2 0.925 0.040 9 127675910 missense variant G/A;T snv 0.700 1.000 4 2010 2015
dbSNP: rs118192194
rs118192194
3 0.882 0.040 20 63446769 missense variant G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs118192215
rs118192215
2 0.925 0.040 20 63438651 missense variant G/A snv 0.700 1.000 3 2005 2013
dbSNP: rs118192236
rs118192236
4 0.851 0.080 20 63413472 stop gained G/A;C snv 0.700 1.000 3 2003 2016
dbSNP: rs138877187
rs138877187
3 0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 3 2006 2010
dbSNP: rs1553524865
rs1553524865
1 1.000 0.040 2 166002471 splice donor variant C/A snv 0.700 1.000 3 2007 2011
dbSNP: rs773171451
rs773171451
5 0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 0.700 1.000 3 2012 2015