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: rs189261858
rs189261858
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.740 1.000 17 2001 2017
dbSNP: rs786204790
rs786204790
1 1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs530719719
rs530719719
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 0
dbSNP: rs560702757
rs560702757
1 1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs759117911
rs759117911
1 1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs773248042
rs773248042
1 1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05 0.700 0
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.030 1.000 3 1998 2004
dbSNP: rs1169358460
rs1169358460
1 1.000 0.120 15 45106906 frameshift variant G/- del 5.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs119472026
rs119472026
2 0.925 0.120 15 45108887 stop gained G/A;C snv 6.8E-05 0.020 1.000 2 2014 2017
dbSNP: rs139892516
rs139892516
2 0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.020 1.000 2 2009 2016
dbSNP: rs181461079
rs181461079
2 0.925 0.120 15 45103960 missense variant C/A;T snv 4.1E-04; 1.2E-04 0.020 1.000 2 2016 2016
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.020 1.000 2 2010 2010
dbSNP: rs200475577
rs200475577
TPO
1 1.000 0.120 2 1487905 missense variant C/T snv 1.6E-05 0.020 1.000 2 2016 2016
dbSNP: rs2076739
rs2076739
TG
5 0.827 0.200 8 132971804 missense variant T/A snv 0.020 1.000 2 1999 2004
dbSNP: rs4774518
rs4774518
3 0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 0.020 1.000 2 2008 2011
dbSNP: rs1043843717
rs1043843717
TPO
1 1.000 0.120 2 1477221 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104893656
rs104893656
4 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001
dbSNP: rs104894110
rs104894110
8 0.776 0.280 9 97854108 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1173174494
rs1173174494
1 1.000 0.120 2 113244466 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121908082
rs121908082
TPO
2 0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908086
rs121908086
TPO
2 0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121908866
rs121908866
3 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003