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: rs1161169998
rs1161169998
1 1.000 0.120 13 108303360 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 < 0.001 1 2011 2011
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.010 1.000 1 2019 2019
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2014 2014
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs762513613
rs762513613
11 0.752 0.280 1 161591315 missense variant A/G snv 4.2E-06 7.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 < 0.001 1 2019 2019
dbSNP: rs146436713
rs146436713
1 1.000 0.120 17 16948957 missense variant C/A;T snv 8.0E-06; 1.9E-04 0.010 1.000 1 2017 2017
dbSNP: rs1467199
rs1467199
2 1.000 0.120 2 191015776 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 1.000 2 2011 2013
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 1.000 2 2011 2013
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 1.000 2 2011 2013
dbSNP: rs181206
rs181206
16 0.742 0.440 16 28502082 missense variant A/G snv 0.28 0.24 0.010 1.000 1 2016 2016
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2013 2016
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs2424913
rs2424913
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2016 2016
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs80338835
rs80338835
3 0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 < 0.001 1 2003 2003
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 < 0.001 1 2003 2003