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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2005 2005
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs9651118
rs9651118
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs780533096
rs780533096
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs61749721
rs61749721
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4754
rs4754
12 0.752 0.360 4 87981540 missense variant T/A;C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs4846049
rs4846049
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011