Source: ALL
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: rs1169358460
rs1169358460
DUOX2
1 1.000 0.120 15 45106906 frameshift variant G/- del 5.0E-06 0.020 1.000 2 2016 2016
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: rs1173174494
rs1173174494
PAX8 ; PAX8-AS1
1 1.000 0.120 2 113244466 missense variant C/G snv 4.0E-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: rs1466641857
rs1466641857
GNAS
1 1.000 0.120 20 58853413 missense variant G/A snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs147945181
rs147945181
DUOX2
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: rs189506473
rs189506473
TSHR ; LOC101928462
1 1.000 0.120 14 81139719 missense variant G/A snv 8.7E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs368201100
rs368201100
PAX8 ; PAX8-AS1
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: 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: rs45499704
rs45499704
TSHR ; CEP128
1 1.000 0.120 14 80955780 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs756822740
rs756822740
DUOX2
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: rs761341933
rs761341933
TSHR ; LOC101928462
1 1.000 0.120 14 81144124 missense variant T/G snv 4.0E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs762588205
rs762588205
DUOX2
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: rs775083174
rs775083174
PAX8 ; PAX8-AS1
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: rs786204790
rs786204790
TSHR ; LOC101928462
1 1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs8028305
rs8028305
DUOX2
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: rs560702757
rs560702757
TUBB1
1 1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs759117911
rs759117911
TUBB1
1 1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs773248042
rs773248042
TUBB1
1 1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05 0.700 0
dbSNP: rs119472026
rs119472026
DUOX2
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
TSHR ; LOC101928462
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
DUOX2
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: 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