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: rs121917762
rs121917762
TH
2 1.000 0.036 11 2165727 missense variant G/A,T snp 4.0E-06; 4.0E-06 0.700 1 2017 2017
dbSNP: rs752746786
rs752746786
27 0.769 0.357 1 1806503 missense variant A/C,G,T snp 4.0E-06 0.700 0
dbSNP: rs80358233
rs80358233
3 1.000 0.071 9 129814065 inframe deletion CCTC/C in-del 0.700 0
dbSNP: rs1801968
rs1801968
6 0.878 0.036 9 129818622 missense variant C/G,T snp 0.13; 4.0E-06 0.11 0.020 0.500 2 2014 2017
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.020 0.500 2 2009 2014
dbSNP: rs727502811
rs727502811
6 0.878 0.071 9 129814108 missense variant C/T snp 9.1E-05 9.6E-05 0.020 1.000 2 2009 2015
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.020 0.500 2 2009 2014
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2010 2010
dbSNP: rs104894442
rs104894442
3 1.000 0.036 14 54844023 missense variant C/G snp 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1182
rs1182
3 1.000 0.036 9 129813781 3 prime UTR variant C/A snp 0.17 0.010 1.000 1 2009 2009
dbSNP: rs121434410
rs121434410
3 1.000 0.036 2 178436264 missense variant G/A snp 9.9E-05 9.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908683
rs121908683
5 0.923 0.071 22 38115667 missense variant G/A snp 9.0E-06 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs121908686
rs121908686
5 0.923 0.036 22 38112558 missense variant C/T snp 9.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs121917763
rs121917763
TH
4 1.000 0.036 11 2167896 missense variant A/G snp 1.2E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs146087734
rs146087734
2 8 42843038 synonymous variant G/A snp 7.6E-05 6.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs149712244
rs149712244
6 1.000 0.071 22 38116155 missense variant C/T snp 3.6E-05 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
54 0.602 0.500 7 87531302 missense variant A/C,T snp 0.54; 3.8E-02 0.64; 2.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs35153737
rs35153737
2 9 129813558 3 prime UTR variant AC/A in-del 0.010 1.000 1 2018 2018
dbSNP: rs530348521
rs530348521
3 22 38112559 missense variant G/A snp 6.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs753374463
rs753374463
2 18 11689847 missense variant T/C snp 2.2E-05 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.036 21 25975997 missense variant T/C snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765338554
rs765338554
4 1.000 0.036 12 53309235 missense variant C/T snp 0.010 1.000 1 2015 2015
dbSNP: rs796065306
rs796065306
4 1.000 0.071 3 123319754 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs80358259
rs80358259
9 0.801 0.286 18 23536736 missense variant A/G snp 2.0E-04 6.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs864309484
rs864309484
4 1.000 0.071 3 123291354 missense variant A/T snp 0.010 1.000 1 2016 2016