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: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs1065852
rs1065852
CYP2D6 ; NDUFA6-DT ; LOC112268294
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2007 2007
dbSNP: rs4818
rs4818
COMT ; MIR4761
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2254638
rs2254638
N6AMT1
3 0.882 0.040 21 28883961 intron variant A/C;G snv 0.020 1.000 2 2017 2018
dbSNP: rs428785
rs428785
ADAMTS1
3 0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78 0.010 1.000 1 2008 2008
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.040 1.000 4 2001 2015
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.040 1.000 4 2001 2015
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2017 2019
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 1.000 2 2016 2017
dbSNP: rs1223493898
rs1223493898
HNF4A
5 0.851 0.120 20 44406090 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs16998248
rs16998248
ZNF217
3 0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2009 2009
dbSNP: rs2295490
rs2295490
TRIB3
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs35720349
rs35720349
ZNF217
3 0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs753630955
rs753630955
TGM2
3 0.882 0.040 20 38161510 stop gained G/A;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs901895948
rs901895948
TGM2
3 0.882 0.040 20 38131160 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs911119
rs911119
CST3
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.833 6 2004 2018
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.030 1.000 3 2010 2020
dbSNP: rs1310478538
rs1310478538
C3
4 0.851 0.080 19 6713295 missense variant C/G snv 1.4E-05 0.020 1.000 2 2002 2010
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.020 1.000 2 2009 2015
dbSNP: rs1035071612
rs1035071612
LDLR ; MIR6886
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1122608
rs1122608
SMARCA4
16 0.763 0.120 19 11052925 intron variant G/T snv 0.18 0.010 1.000 1 2016 2016