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: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.030 1.000 3 2013 2019
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2000 2000
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs750996166
rs750996166
2 0.925 0.040 1 161041409 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs660339
rs660339
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2008 2008
dbSNP: rs46522
rs46522
8 0.807 0.120 17 48911235 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2010 2015
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs12564445
rs12564445
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs3861950
rs3861950
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs2453021
rs2453021
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2011 2011
dbSNP: rs12347433
rs12347433
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2002 2012
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 < 0.001 1 2017 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2017 2017
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs5743611
rs5743611
7 0.807 0.160 4 38798593 missense variant C/G snv 6.9E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 1.000 1 2003 2003
dbSNP: rs4803455
rs4803455
11 0.752 0.280 19 41345604 intron variant C/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2014 2015