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: rs121908869
rs121908869
TSHR ; CEP128
5 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.010 1.000 1 2005 2005
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: rs139892516
rs139892516
TSHR ; LOC101928462
2 0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs200000982
rs200000982
DUOX2
1 1.000 0.040 15 45099449 missense variant T/C snv 6.0E-05 6.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs4704397
rs4704397
PDE8B
13 0.807 0.200 5 77222617 intron variant G/A snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs57659670
rs57659670
DUOX2
2 0.925 0.120 15 45106240 missense variant T/C snv 9.8E-02 0.17 0.010 1.000 1 2011 2011
dbSNP: rs61730030
rs61730030
DUOX2
1 1.000 0.040 15 45100816 missense variant G/A;C;T snv 4.0E-06; 5.0E-02; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs732609
rs732609
TPO
5 0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs753523115
rs753523115
SLC12A3
2 0.925 0.160 16 56880142 missense variant G/A snv 2.5E-05 7.0E-06 0.010 1.000 1 2018 2018