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: rs548294
rs548294
2 1.000 0.040 5 153488877 upstream gene variant T/C snv 0.62 0.020 < 0.001 2 2015 2018
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 < 0.001 1 2011 2011
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2018 2018
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1160720
rs1160720
1 13 35312538 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1186902
rs1186902
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 < 0.001 1 2015 2015
dbSNP: rs1950902
rs1950902
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 < 0.001 1 2014 2014
dbSNP: rs2020942
rs2020942
2 17 30219896 intron variant C/T snv 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 < 0.001 1 2019 2019
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2014 2014
dbSNP: rs3754701
rs3754701
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs3761555
rs3761555
2 1.000 0.040 X 123182584 upstream gene variant T/C snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs3794087
rs3794087
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 < 0.001 1 2014 2014
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 < 0.001 1 2015 2015
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs693534
rs693534
2 1.000 0.080 12 117346913 intron variant G/A snv 0.36 0.010 < 0.001 1 2015 2015
dbSNP: rs712507
rs712507
1 3 111936542 intron variant T/C snv 0.69 0.010 < 0.001 1 2015 2015
dbSNP: rs7977109
rs7977109
2 1.000 0.080 12 117292535 intron variant G/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.030 0.333 3 2010 2014
dbSNP: rs2274316
rs2274316
3 0.925 0.040 1 156476450 intron variant C/A snv 0.62 0.54 0.820 0.500 4 2012 2017
dbSNP: rs1042838
rs1042838
PGR
12 0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06 0.020 0.500 2 2010 2015
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.020 0.500 2 2013 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2007 2011
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 0.500 2 2005 2014