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: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.850 0.833 6 2010 2020
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.060 1.000 6 2014 2017
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: rs4273729
rs4273729 		5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.810 1.000 2 2013 2017
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2016 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12952093
rs12952093
LOC101928674
1 1.000 0.080 17 78367559 intron variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12989760
rs12989760
SH3YL1
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs2230201
rs2230201
C3
3 0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2267716
rs2267716
CRHR2
4 0.851 0.120 7 30677027 intron variant T/A;C snv 0.010 1.000 1 2010 2010
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: 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: 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: rs8878
rs8878
ART3 ; CXCL10
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 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: 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: 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: 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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.857 7 1998 2020
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