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: 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: rs142122217
rs142122217
TSHR ; LOC101928462
2 0.925 0.080 14 81142973 missense variant T/A;C snv 2.4E-04; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs55638457
rs55638457
SLC26A4
1 1.000 0.080 7 107701183 missense variant T/C snv 8.3E-03 6.0E-03 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