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: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.090 1.000 9 2004 2019
dbSNP: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.040 0.750 4 2002 2009
dbSNP: rs1566446604
rs1566446604
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1064794254
rs1064794254
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs1555144459
rs1555144459
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1064793345
rs1064793345
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.020 0.500 2 2011 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2019
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.810 1.000 2 2009 2019
dbSNP: rs4746
rs4746
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.020 1.000 2 2011 2014
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2005 2019
dbSNP: rs751945904
rs751945904
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.020 1.000 2 2011 2019
dbSNP: rs7603001
rs7603001
2 0.925 0.040 2 184902089 intron variant A/G;T snv 0.020 0.500 2 2014 2019
dbSNP: rs849563
rs849563
1 1.000 0.040 2 205745778 synonymous variant T/A;G snv 4.0E-06; 0.19 0.020 1.000 2 2007 2017
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1119032
rs1119032
1 1.000 0.040 5 140902846 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs11587400
rs11587400
1 1.000 0.040 1 114537037 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121909323
rs121909323
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1246651989
rs1246651989
2 0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12690517
rs12690517
1 1.000 0.040 2 181509807 splice region variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 < 0.001 1 2019 2019