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: rs758430171
rs758430171
ICAM1
1 1.000 0.120 19 10284840 missense variant C/G snv 4.3E-06 0.010 1.000 1 2009 2009
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2004 2016
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs572527200
rs572527200
MMP12
4 0.882 0.240 11 102875064 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10903323
rs10903323
MSRA
8 0.807 0.160 8 10292057 intron variant A/G snv 0.15 0.030 1.000 3 2010 2013
dbSNP: rs769283795
rs769283795
KLRD1
1 1.000 0.120 12 10313425 missense variant A/G;T snv 8.2E-06 0.010 1.000 1 2003 2003
dbSNP: rs74956615
rs74956615
FDX2 ; RAVER1
6 0.807 0.160 19 10317045 3 prime UTR variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs26232
rs26232
MACIR
4 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.830 1.000 5 2010 2019
dbSNP: rs39984
rs39984
MACIR
1 1.000 0.120 5 103261591 intron variant G/T snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs2561477
rs2561477
MACIR
1 1.000 0.120 5 103273223 intron variant G/A snv 0.24 0.800 1.000 4 2012 2019
dbSNP: rs7258015
rs7258015
ICAM3
2 0.925 0.120 19 10338682 missense variant T/C snv 0.22 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11085725
rs11085725
TYK2
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.830 0.857 7 2012 2019
dbSNP: rs35018800
rs35018800
TYK2
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs1166916365
rs1166916365
RNPC3
1 1.000 0.120 1 103546277 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs4918037
rs4918037
SH3PXD2A
1 1.000 0.120 10 103653282 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs750018164
rs750018164
KLRC1
1 1.000 0.120 12 10450529 missense variant A/G;T snv 4.0E-06; 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs4264325
rs4264325
TMEM179
1 1.000 0.120 14 104513149 intron variant T/C snv 0.97 0.700 1.000 1 2019 2019
dbSNP: rs2841277
rs2841277
PLD4
3 0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41 0.810 1.000 2 2012 2017
dbSNP: rs2582532
rs2582532
PLD4
1 1.000 0.120 14 104926500 intron variant T/C snv 0.93 0.800 1.000 1 2014 2014
dbSNP: rs9651713
rs9651713
CASP5
1 1.000 0.120 11 105004030 intron variant G/A snv 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs552217
rs552217
CASP5
1 1.000 0.120 11 105009264 intron variant T/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs548234
rs548234
ATG5
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs802791
rs802791
ATG5
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs6568431
rs6568431
ATG5
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.700 1.000 1 2017 2017