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: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs522616
rs522616
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs9509
rs9509
2 0.925 0.120 20 46016514 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs1333040
rs1333040
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11545664
rs11545664
ENG
4 0.925 0.120 9 127843106 synonymous variant C/T snv 9.3E-02 0.14 0.020 1.000 2 2014 2015
dbSNP: rs201393380
rs201393380
4 0.925 0.120 9 127825767 missense variant C/G snv 1.3E-04 7.8E-04 0.020 1.000 2 2014 2015
dbSNP: rs7865618
rs7865618
11 0.776 0.240 9 22031006 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.010 1.000 1 2017 2017
dbSNP: rs10486391
rs10486391
2 1.000 0.080 7 20336395 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs11672433
rs11672433
3 0.925 0.120 19 8373832 synonymous variant G/A;C snv 0.10; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs2936018
rs2936018
1 1.000 0.080 1 214388009 intron variant T/C snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs314308
rs314308
1 1.000 0.080 7 100823256 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2019 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs897009059
rs897009059
2 0.925 0.120 3 12618557 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020