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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 18 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 17 2004 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 11 2006 2018
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.750 1.000 6 2014 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2006 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.040 1.000 4 2012 2017
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.040 0.250 4 2007 2020
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2008 2016
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.030 0.667 3 1999 2015
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2014 2015
dbSNP: rs148789453
rs148789453
4 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.020 1.000 2 2014 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2017 2017
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.020 1.000 2 1996 2010
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2015 2018
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.020 1.000 2 2003 2005
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2015
dbSNP: rs1009080
rs1009080
2 1 29958713 intergenic variant G/A snv 0.54 0.700 1.000 1 2010 2010
dbSNP: rs1018381
rs1018381
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10275045
rs10275045
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs10496702
rs10496702
2 2 133247997 intron variant G/A snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs10812227
rs10812227
2 1.000 0.080 9 2548556 intron variant C/G;T snv 0.010 1.000 1 2013 2013