Source: ALL
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2013 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2007
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2011 2011
dbSNP: rs1059702
rs1059702
IRAK1
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 < 0.001 1 2014 2014
dbSNP: rs10818488
rs10818488
C5-OT1
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2005 2005
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2003 2003
dbSNP: rs3093059
rs3093059
CRP
11 0.752 0.520 1 159715346 upstream gene variant A/G snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs3819024
rs3819024
IL17A
17 0.701 0.560 6 52185988 upstream gene variant A/G snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs6910071
rs6910071
TSBP1 ; TSBP1-AS1
7 0.790 0.320 6 32315077 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2010 2014
dbSNP: rs2162440
rs2162440 		1 1.000 0.160 18 37634043 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2073498
rs2073498
RASSF1
12 0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs34794968
rs34794968
CD226
2 0.925 0.200 18 69863790 3 prime UTR variant C/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2005 2005
dbSNP: rs3764340
rs3764340
WWOX
9 0.807 0.280 16 78432540 missense variant C/G snv 7.1E-02 7.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs540386
rs540386
TRAF6
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2010 2014
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2010 2010