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: rs1113452
rs1113452
FSD2
1 1.000 0.120 15 82805465 intron variant G/A snv 3.5E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2019 2019
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 < 0.001 1 2019 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2019 2019
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs3206634
rs3206634
SMAD5
1 1.000 0.120 5 136180515 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs6864584
rs6864584
MIR3142HG
1 1.000 0.120 5 160467978 intron variant T/C snv 6.3E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 0.500 2 2018 2019
dbSNP: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.880 1.000 9 2011 2019
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.820 1.000 4 2012 2016
dbSNP: rs2254546
rs2254546 		6 0.807 0.400 8 11486171 upstream gene variant A/G snv 0.83 0.820 1.000 3 2012 2014
dbSNP: rs6993775
rs6993775
BLK
1 1.000 0.120 8 11512480 intron variant G/T snv 0.77 0.720 1.000 3 2012 2019
dbSNP: rs2857151
rs2857151 		2 0.925 0.160 6 32795737 intergenic variant A/C;G snv 0.810 1.000 2 2012 2013
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2006 2012
dbSNP: rs4813003
rs4813003 		3 0.882 0.160 20 46134645 downstream gene variant C/A;T snv 0.19 0.810 1.000 2 2012 2015
dbSNP: rs10082659
rs10082659
LDLRAD3
1 1.000 0.120 11 36122428 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs10100215
rs10100215
BLK
1 1.000 0.120 8 11504763 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs10127456
rs10127456
FHAD1 ; FHAD1-AS1
2 0.925 0.120 1 15327376 non coding transcript exon variant G/A snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs10866845
rs10866845
EBF2 ; LOC102723395
1 1.000 0.120 8 25850751 synonymous variant T/C snv 0.42 0.49 0.010 1.000 1 2018 2018
dbSNP: rs11250141
rs11250141
BLK
1 1.000 0.120 8 11514632 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11340705
rs11340705
LINC00690
1 1.000 0.120 3 16526578 intron variant AA/-;A;AAA delins 0.010 1.000 1 2013 2013