Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs530719719
DUOX2
0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03 3
rs191759494
DUOX2
0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04 2
rs189261858
LOC101928462 ; TSHR
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 2
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs119472026
DUOX2
0.925 0.120 15 45108887 stop gained G/A;C snv 6.8E-05 1
rs181461079
DUOX2
0.925 0.120 15 45103960 missense variant C/A;T snv 4.1E-04; 1.2E-04 1
rs748793969
DUOX2
0.827 0.120 15 45106327 missense variant G/A;T snv 3.2E-05; 6.8E-05 1
rs4774518
DUOXA1 ; DUOXA2
0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 1
rs104894110
FOXE1 ; PTCSC2
0.776 0.280 9 97854108 missense variant C/T snv 1
rs786204790
LOC101928462 ; TSHR
1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05 1
rs370991693
LOC105375768 ; TG
0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 1
rs104893656
PAX8-AS1 ; PAX8
0.851 0.120 2 113246826 missense variant T/G snv 1
rs121909175
SLC5A5
0.925 0.120 19 17877840 stop gained C/A snv 7.0E-06 1
rs2076738
TG
0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 1
rs2076739
TG
0.827 0.200 8 132971804 missense variant T/A snv 1
rs898275076
TG
0.925 0.120 8 133022135 missense variant G/A snv 7.0E-06 1
rs121908082
TPO
0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 1
rs121908086
TPO
0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06 1
rs121908866
TSHR ; LOC101928462
0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 1
rs560702757
TUBB1
1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06 1
rs759117911
TUBB1
1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06 1
rs773248042
TUBB1
1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05 1