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: rs10783618
rs10783618
HOXC11 ; HOTAIR
1 1.000 0.160 12 53971491 intron variant T/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs128738
rs128738
P4HA2
2 0.925 0.160 5 132205182 intron variant G/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2162440
rs2162440 		1 1.000 0.160 18 37634043 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2548861
rs2548861
WWOX
1 1.000 0.160 16 78624496 intron variant T/G snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs374039502
rs374039502
TNFSF13B
4 0.925 0.160 13 108308037 3 prime UTR variant T/A snv 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs4252134
rs4252134
PLG
2 0.925 0.160 6 160732495 intron variant T/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs6430612
rs6430612 		1 1.000 0.160 2 136248628 intergenic variant C/T snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs762623
rs762623
CDKN1A ; DINOL
2 1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12 0.010 1.000 1 2015 2015
dbSNP: rs17435
rs17435
MECP2
4 0.851 0.200 X 154046529 intron variant T/A;C snv 0.010 < 0.001 1 2014 2014
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: rs540386
rs540386
TRAF6
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs3218625
rs3218625
PTGS2
2 0.925 0.240 1 186674409 missense variant C/T snv 1.6E-03 5.0E-04 0.010 1.000 1 2011 2011
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: 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: 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: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2010 2010
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: rs560191
rs560191
TP53BP1
12 0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7025417
rs7025417
IL33 ; LOC107987046
11 0.752 0.280 9 6240084 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1417938
rs1417938
CRP
10 0.776 0.320 1 159714396 intron variant T/A;C snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs143101792
rs143101792
CRP
5 0.851 0.320 1 159714026 stop gained G/C snv 8.8E-05 1.3E-04 0.010 < 0.001 1 2005 2005
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2010 2010
dbSNP: rs3838646
rs3838646
TTTY14
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 1.000 1 2008 2008
dbSNP: rs6906021
rs6906021
HLA-DQB1-AS1
6 0.827 0.320 6 32658534 upstream gene variant T/C snv 0.47 0.010 1.000 1 2016 2016
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