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: rs1246651989
rs1246651989
2 0.925 0.160 1 197435519 frameshift variant AG/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1429108797
rs1429108797
1 1.000 0.160 X 63638143 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs202247813
rs202247813
2 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs760378316
rs760378316
1 1.000 0.160 7 99203201 stop gained G/A snv 3.2E-05 6.3E-05 0.700 1.000 1 2016 2016
dbSNP: rs121917929
rs121917929
3 0.925 0.160 2 166046970 missense variant G/A;T snv 0.700 0
dbSNP: rs1555055028
rs1555055028
5 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562171209
rs1562171209
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1565091862
rs1565091862
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs1569149539
rs1569149539
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs1569151204
rs1569151204
2 0.925 0.160 22 42213495 frameshift variant CA/- delins 0.700 0
dbSNP: rs886041239
rs886041239
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0
dbSNP: rs104894700
rs104894700
2 0.925 0.200 19 50323609 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057516048
rs1057516048
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs786200963
rs786200963
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044872
rs797044872
3 0.882 0.200 19 50323685 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1239725461
rs1239725461
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554642022
rs1554642022
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1569356968
rs1569356968
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
dbSNP: rs762864856
rs762864856
3 0.925 0.200 5 151856384 splice acceptor variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs312262717
rs312262717
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs794729664
rs794729664
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016