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: rs1554122123
rs1554122123
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs756421370
rs756421370
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs886041287
rs886041287
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 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: rs1554122526
rs1554122526
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1566785990
rs1566785990
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs1554123982
rs1554123982
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1048764460
rs1048764460
1 1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 0.700 0
dbSNP: rs1555038029
rs1555038029
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs1559759089
rs1559759089
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs935855792
rs935855792
3 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs267608463
rs267608463
5 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
dbSNP: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs1287121256
rs1287121256
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs188675529
rs188675529
11 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
dbSNP: rs121908557
rs121908557
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs1554385305
rs1554385305
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017