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: rs1466535
rs1466535
LRP1
9 0.790 0.160 12 57140687 intron variant G/A;C snv 0.840 1.000 4 2011 2015
dbSNP: rs2836411
rs2836411
ERG
1 1.000 0.040 21 38447907 intron variant C/A;T snv 0.720 1.000 3 2017 2020
dbSNP: rs1795061
rs1795061 		1 1.000 0.040 1 214235937 intergenic variant T/C;G snv 0.710 0.500 2 2017 2020
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2005 2010
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2013 2019
dbSNP: rs3019885
rs3019885
SLC30A8
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.710 1.000 2 2011 2015
dbSNP: rs1057518075
rs1057518075
COL3A1 ; MIR3606
1 1.000 0.040 2 188995061 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs11206510
rs11206510 		16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs12191786
rs12191786
CASC15
4 0.851 0.120 6 22004398 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1417938
rs1417938
CRP
10 0.776 0.320 1 159714396 intron variant T/A;C snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1418184396
rs1418184396
SERPINF1
1 1.000 0.040 17 1776722 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs201191171
rs201191171
MMP9 ; SLC12A5-AS1
2 0.925 0.080 20 46013279 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2070863
rs2070863
SERPINF2
1 1.000 0.040 17 1745208 missense variant C/G;T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2018 2018
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3877899
rs3877899
SELENOP ; CCDC152
7 0.827 0.160 5 42801166 missense variant C/A;T snv 4.0E-06; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2014 2014
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs61758388
rs61758388
XYLT1 ; LOC107987234
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs764522
rs764522
TGFBR2 ; LOC105377015
3 0.882 0.080 3 30605058 upstream gene variant G/A;C snv 0.010 1.000 1 2011 2011