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: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs530719719
rs530719719
DUOX2
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 0
dbSNP: rs560702757
rs560702757
TUBB1
1 1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/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: 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: rs104893656
rs104893656
PAX8 ; PAX8-AS1
4 0.851 0.120 2 113246826 missense variant T/G snv 0.010 1.000 1 2001 2001
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
8 0.776 0.280 9 97854108 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
3 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003
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: 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: 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: 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: 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: 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: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.020 1.000 2 2010 2010
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2010 2010
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
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