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: rs368201100
rs368201100
1 1.000 0.120 2 113218569 synonymous variant T/C snv 2.4E-03 2.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs775083174
rs775083174
1 1.000 0.120 2 113241654 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 2007 2007
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: rs104893656
rs104893656
4 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001
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: rs2076739
rs2076739
TG
5 0.827 0.200 8 132971804 missense variant T/A snv 0.020 1.000 2 1999 2004
dbSNP: rs370991693
rs370991693
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs898275076
rs898275076
TG
2 0.925 0.120 8 133022135 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
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: 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: 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
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
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: 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: 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: rs121909175
rs121909175
2 0.925 0.120 19 17877840 stop gained C/A snv 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs147945181
rs147945181
1 1.000 0.120 15 45095881 missense variant G/A snv 5.9E-04 3.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs762588205
rs762588205
1 1.000 0.120 15 45097691 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs756822740
rs756822740
1 1.000 0.120 15 45099838 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs530719719
rs530719719
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 0
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: rs8028305
rs8028305
1 1.000 0.120 15 45106225 missense variant C/A;T snv 3.4E-04; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs746165975
rs746165975
2 0.925 0.120 15 45106254 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2014 2014