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: rs7158663
rs7158663
MEG3
9 0.827 0.240 14 100853087 non coding transcript exon variant A/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs4081134
rs4081134
MEG3
7 0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 < 0.001 1 2019 2019
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2016
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.060 0.833 6 2006 2018
dbSNP: rs4965814
rs4965814
SELENOS
2 1.000 0.080 15 101273712 intron variant C/T snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs34713741
rs34713741
SELENOS
3 0.882 0.280 15 101277671 upstream gene variant C/A;T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.020 1.000 2 2006 2015
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 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: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.020 0.500 2 2010 2018
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.030 0.667 3 2015 2018
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.050 1.000 5 2003 2019
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2019 2019
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: 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: rs7950273
rs7950273
PDGFD
5 0.925 0.120 11 104160870 intron variant C/G snv 0.32 0.020 0.500 2 2008 2016
dbSNP: rs2066715
rs2066715
ABCA1
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.020 1.000 2 2014 2017
dbSNP: rs2740483
rs2740483
ABCA1 ; LOC105376196
3 0.882 0.120 9 104928254 intron variant G/C snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1535459
rs1535459
PTPRD
1 1.000 0.080 9 10550204 intron variant C/G snv 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
SLC44A2
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.700 1.000 1 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