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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 < 0.001 2 2001 2003
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2008 2008
dbSNP: rs281860391
rs281860391
HLA-B ; HLA-C
2 0.925 0.080 6 31271690 stop gained C/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 < 0.001 1 2001 2001
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2004 2004
dbSNP: rs6749704
rs6749704
CCL20
5 0.827 0.240 2 227813126 intron variant T/C snv 0.24 0.010 < 0.001 1 2016 2016
dbSNP: rs72653706
rs72653706
ABCC6
32 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.010 < 0.001 1 2011 2011
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs753152
rs753152
RAMP2 ; RAMP2-AS1
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2008 2008
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2003 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2002 2018
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.080 1.000 8 1997 2011
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.040 1.000 4 2000 2016
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.040 1.000 4 2000 2016
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1997 2002
dbSNP: rs1320702652
rs1320702652
MFAP1
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.030 1.000 3 2003 2014
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.030 1.000 3 1999 2000
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2017 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2006 2006