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: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
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: 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: 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: rs140731896
rs140731896
TPO
1 1.000 0.120 2 1540594 stop gained G/A;T snv 1.2E-05; 2.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs369441749
rs369441749
TPO
1 1.000 0.120 2 1414421 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs753012199
rs753012199
TPO
2 1.000 0.120 2 1477425 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014