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: rs149617956
rs149617956
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
dbSNP: rs1555970404
rs1555970404
3 0.882 0.200 X 85255275 frameshift variant -/A delins 0.700 1.000 2 2009 2017
dbSNP: rs1135401778
rs1135401778
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1553654413
rs1553654413
4 0.925 0.240 3 4627877 splice region variant CGTA/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1554297905
rs1554297905
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1554904772
rs1554904772
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1555447569
rs1555447569
4 0.851 0.160 15 76471314 frameshift variant ATTG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs767961672
rs767961672
4 0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs797045140
rs797045140
6 0.827 0.200 X 53238308 splice region variant TG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869312667
rs869312667
2 1.000 0.160 13 35157262 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs878853169
rs878853169
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057519561
rs1057519561
4 0.882 0.200 6 85533701 frameshift variant -/AAAAAAAAAAA delins 7.0E-06 0.700 0
dbSNP: rs1060499626
rs1060499626
6 0.882 0.160 10 180034 stop gained C/T snv 0.700 0
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1085307451
rs1085307451
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs1131691299
rs1131691299
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs119103286
rs119103286
5 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
dbSNP: rs121908216
rs121908216
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
dbSNP: rs1305542291
rs1305542291
3 0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs139194636
rs139194636
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs1395475624
rs1395475624
3 0.882 0.160 15 76753813 inframe deletion CTT/- delins 0.700 0
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0