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: rs10123021
rs10123021 		1 9 100689786 regulatory region variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs3783613
rs3783613
VCAM1
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.020 0.500 2 2002 2015
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.020 1.000 2 2010 2016
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7136446
rs7136446
IGF1 ; LINC02456
8 0.882 0.160 12 102444737 intron variant C/T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2015 2015
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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2005108
rs2005108 		3 1.000 0.080 11 102899623 downstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2986017
rs2986017
CALHM1
6 0.851 0.120 10 103458495 missense variant A/G snv 0.79 0.80 0.010 1.000 1 2011 2011
dbSNP: rs2295786
rs2295786
SH3PXD2A
2 1.000 0.080 10 103856724 upstream gene variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3809021
rs3809021
PDGFD
4 0.882 0.080 11 104164894 upstream gene variant T/G snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2004 2004
dbSNP: rs146292819
rs146292819
ABCA1
9 0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs2066718
rs2066718
ABCA1
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2006 2006
dbSNP: rs2288904
rs2288904
SLC44A2
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.010 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs783396
rs783396
CRYBG1
2 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs2229383
rs2229383
ILF3
2 1.000 0.080 19 10683954 synonymous variant G/A;C;T snv 4.0E-06; 0.68 0.700 1.000 1 2018 2018
dbSNP: rs2507800
rs2507800
ANGPT1
2 1.000 0.040 8 107250441 3 prime UTR variant T/A snv 0.36 0.010 1.000 1 2010 2010