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: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2008 2008
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.900 1.000 19 2004 2019
dbSNP: rs1789882
rs1789882
4 1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82 0.700 1.000 1 2014 2014
dbSNP: rs1042364
rs1042364
1 1.000 0.080 4 99124423 stop gained T/A;C snv 0.78 0.020 1.000 2 2011 2016
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs702859
rs702859
3 1.000 0.080 21 37625399 synonymous variant G/A snv 0.71 0.72 0.700 1.000 1 2012 2012
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2012 2012
dbSNP: rs17689966
rs17689966
1 1.000 0.080 17 45833089 intron variant G/A snv 0.63 0.56 0.010 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2019 2019
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2006 2014
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2007 2007
dbSNP: rs2836016
rs2836016
2 0.925 0.080 21 37840718 intron variant G/A snv 0.59 0.58 0.010 1.000 1 2011 2011
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2008 2008
dbSNP: rs248793
rs248793
1 1.000 0.080 5 6633666 synonymous variant C/G snv 0.55 0.58 0.020 1.000 2 2011 2014
dbSNP: rs12529
rs12529
10 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 0.010 1.000 1 2011 2011
dbSNP: rs2567608
rs2567608
2 0.925 0.080 20 23036445 missense variant T/A;C snv 2.8E-05; 0.49 0.010 1.000 1 2017 2017
dbSNP: rs6715729
rs6715729
1 1.000 0.080 2 75198602 synonymous variant A/G snv 0.48 0.58 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.070 1.000 7 2004 2015
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.010 1.000 1 2005 2005
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.040 1.000 4 2008 2012
dbSNP: rs7301328
rs7301328
3 0.882 0.120 12 13865843 synonymous variant G/C;T snv 0.41; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.040 0.500 4 2001 2013
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.050 1.000 5 2012 2016
dbSNP: rs1806191
rs1806191
2 0.925 0.080 12 13563704 missense variant G/A;T snv 0.40; 4.0E-06 0.010 1.000 1 2005 2005