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: rs1290141855
rs1290141855
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137852538
rs137852538
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1426868527
rs1426868527
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1555727942
rs1555727942
3 0.925 0.160 19 15180807 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs267604921
rs267604921
3 0.925 0.160 17 45993953 missense variant C/A;G;T snv 6.3E-05; 2.5E-04; 5.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs369634041
rs369634041
3 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs63750072
rs63750072
3 1.000 0.080 17 45983493 missense variant A/G snv 4.0E-02 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs74315360
rs74315360
3 0.925 0.040 1 20638104 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs752078407
rs752078407
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs774457232
rs774457232
3 0.925 0.080 3 184331303 missense variant G/A;T snv 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs781442277
rs781442277
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs886039227
rs886039227
4 0.925 0.200 2 74378123 missense variant A/C snv 0.020 1.000 2 2014 2018
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2942168
rs2942168
4 0.925 0.120 17 45637484 non coding transcript exon variant G/A;C;T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs368134308
rs368134308
4 0.882 0.040 6 162443356 missense variant C/A;G;T snv 3.2E-05; 2.6E-04 0.010 1.000 1 2001 2001
dbSNP: rs41549716
rs41549716
4 0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs63750444
rs63750444
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs761807915
rs761807915
4 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.030 1.000 3 1996 1999
dbSNP: rs762472005
rs762472005
5 0.851 0.040 3 45722873 missense variant G/A snv 1.2E-05 7.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs121908683
rs121908683
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013