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: rs201112391
rs201112391
TXNRD2
1 1.000 0.040 22 19918887 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs201391000
rs201391000
TXNRD2
2 0.925 0.080 22 19877157 missense variant C/A;T snv 2.3E-04 0.010 < 0.001 1 1994 1994
dbSNP: rs201943415
rs201943415
TXNRD2
1 1.000 0.040 22 19877146 missense variant G/A snv 5.3E-05 2.1E-05 0.020 1.000 2 1994 1997
dbSNP: rs28933408
rs28933408
THRB
3 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.060 1.000 6 1994 2019
dbSNP: rs28999970
rs28999970
THRB
2 0.925 0.040 3 24127609 missense variant C/A;T snv 0.700 0
dbSNP: rs368176907
rs368176907
TXNRD2
2 1.000 0.040 22 19877158 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs374364917
rs374364917
TXNRD2
1 1.000 0.040 22 19895535 missense variant C/T snv 6.0E-05 1.3E-04 0.010 1.000 1 1995 1995
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 2017 2017
dbSNP: rs758677446
rs758677446
THRB ; LOC101927854
2 0.925 0.160 3 24190250 missense variant C/T snv 6.4E-05 7.0E-06 0.010 1.000 1 2019 2019