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: rs121909175
rs121909175
SLC5A5
2 0.925 0.120 19 17877840 stop gained C/A snv 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1294870139
rs1294870139
TSHR ; LOC101928462
2 0.925 0.120 14 81143638 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
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: 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: 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: rs370991693
rs370991693
TG ; LOC105375768
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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