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 0.080 1.000 8 2004 2019
dbSNP: rs167771
rs167771
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs2710102
rs2710102
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.030 1.000 3 2011 2019
dbSNP: rs4307059
rs4307059
5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.030 1.000 3 2010 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2013 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2009 2017
dbSNP: rs1042778
rs1042778
3 0.925 0.040 3 8752859 3 prime UTR variant G/A;C;T snv 0.020 1.000 2 2018 2019
dbSNP: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.020 0.500 2 2011 2012
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs1800561
rs1800561
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.020 1.000 2 2010 2012
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2018 2019
dbSNP: rs237897
rs237897
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs3735653
rs3735653
EN2
2 0.925 0.040 7 155458738 missense variant C/G;T snv 0.54 0.020 1.000 2 2004 2010
dbSNP: rs397514679
rs397514679
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs4446909
rs4446909
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2015 2018
dbSNP: rs5989681
rs5989681
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs762292772
rs762292772
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs779867
rs779867
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs1026306398
rs1026306398
EN2
1 1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1033810883
rs1033810883
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10497655
rs10497655
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs1131692040
rs1131692040
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1152582
rs1152582
1 1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018