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: 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: rs189261858
rs189261858
TSHR ; LOC101928462
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.740 1.000 17 2001 2017
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: 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: 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: 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: 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: 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: 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: rs191759494
rs191759494
DUOX2
3 0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs748793969
rs748793969
DUOX2
5 0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 0.010 1.000 1 2016 2016
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: 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: rs765367813
rs765367813
TSHR ; LOC101928462
3 0.882 0.120 14 81143640 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
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: 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: 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: rs746165975
rs746165975
DUOX2
2 0.925 0.120 15 45106254 frameshift variant -/T delins 4.0E-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: rs763679435
rs763679435
TSHR ; LOC101928462
4 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
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: rs4774518
rs4774518
DUOXA1 ; DUOXA2
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: 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