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: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.070 1.000 7 2000 2011
dbSNP: rs267607124
rs267607124
6 0.807 0.080 3 52451410 missense variant G/A;C;T snv 4.0E-05; 4.0E-06; 1.3E-04 0.040 1.000 4 2009 2017
dbSNP: rs104894369
rs104894369
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.030 1.000 3 2019 2019
dbSNP: rs121913624
rs121913624
4 0.851 0.080 14 23429278 missense variant C/A;G;T snv 0.030 1.000 3 2014 2018
dbSNP: rs121913630
rs121913630
7 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.030 1.000 3 2006 2020
dbSNP: rs267607123
rs267607123
4 0.882 0.080 3 52452222 missense variant A/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2019
dbSNP: rs35049558
rs35049558
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.030 1.000 3 2019 2019
dbSNP: rs104894502
rs104894502
6 0.807 0.120 15 63060915 missense variant A/G;T snv 0.020 1.000 2 2000 2011
dbSNP: rs121908991
rs121908991
6 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
dbSNP: rs267607128
rs267607128
3 0.882 0.040 19 55157097 missense variant G/A snv 0.020 1.000 2 2012 2015
dbSNP: rs375882485
rs375882485
5 0.827 0.080 11 47342698 missense variant G/A snv 4.0E-05 9.8E-05 0.020 1.000 2 2010 2018
dbSNP: rs397516005
rs397516005
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.020 1.000 2 2015 2019
dbSNP: rs587777220
rs587777220
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.020 0.500 2 2009 2013
dbSNP: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894204
rs104894204
4 0.882 0.040 11 19188245 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs104894231
rs104894231
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894630
rs104894630
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs104894724
rs104894724
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894729
rs104894729
5 0.827 0.080 19 55151892 missense variant C/A;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057517105
rs1057517105
GAA
3 0.882 0.160 17 80112655 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057517686
rs1057517686
7 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519819
rs1057519819
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1060501436
rs1060501436
2 0.925 0.040 14 23424815 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1064793206
rs1064793206
2 0.925 0.040 14 23424993 missense variant G/A snv 0.010 1.000 1 2010 2010