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: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 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: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs12695895
rs12695895
AGTR1
3 0.925 0.040 3 148725481 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs12916
rs12916
HMGCR ; CERT1
12 0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs13382862
rs13382862
LDAH
1 1.000 0.040 2 20682689 upstream gene variant A/G;T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs137854485
rs137854485
FBN1
2 0.925 0.160 15 48515402 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1385526
rs1385526
LRP1
1 1.000 0.040 12 57138966 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
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: rs1419338705
rs1419338705
ELN
1 1.000 0.040 7 74048163 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 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: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2005 2005
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: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2306691
rs2306691
LRP1 ; LRP1-AS
1 1.000 0.040 12 57145019 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.800 1.000 1 2010 2010
dbSNP: rs2479409
rs2479409
PCSK9
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.010 < 0.001 1 2018 2018