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: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
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: rs1057516038
rs1057516038
5 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057517846
rs1057517846
2 1.000 16 78108446 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1114167445
rs1114167445
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135402725
rs1135402725
6 0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs114638163
rs114638163
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs1310897090
rs1310897090
2 1.000 2 15467394 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
5 0.882 0.120 17 67975933 stop gained A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs369867819
rs369867819
5 0.851 0.320 11 76659963 stop gained G/A;T snv 4.0E-06 0.710 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs724159949
rs724159949
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs769705065
rs769705065
5 0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs797044519
rs797044519
9 0.925 21 37478285 stop gained C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs797044520
rs797044520
6 0.925 21 37505442 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs797046101
rs797046101
5 0.851 0.280 X 49076469 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs886039777
rs886039777
3 0.925 0.120 21 33549517 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057518789
rs1057518789
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518951
rs1057518951
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0