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: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs1293762
rs1293762
OAS2
1 1.000 0.080 12 112993031 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs2854117
rs2854117
APOC3
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2854116
rs2854116
APOC3
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2011
dbSNP: rs11966728
rs11966728 		1 1.000 0.080 6 131955465 intron variant T/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs10776934
rs10776934 		1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs1470452230
rs1470452230
PAEP
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1993116
rs1993116
CYP2R1
8 0.827 0.200 11 14888688 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs5743704
rs5743704
TLR2
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2007 2012
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs17047200
rs17047200
TLL1
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2017
dbSNP: rs1863918
rs1863918
ADAMTS2
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.040 0.750 4 2015 2017
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
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 2018 2018