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: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2010 2010
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: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs530719719
rs530719719
DUOX2
3 0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 0.700 0
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: 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: 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: 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: 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: 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