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: 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: 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
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 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: 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: rs786204790
rs786204790
TSHR ; LOC101928462
1 1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 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: 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: rs773248042
rs773248042
TUBB1
1 1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05 0.700 0