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: rs1800779
rs1800779
NOS3
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.070 0.714 7 2003 2016
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2013 2013
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2006 2009
dbSNP: rs10515746
rs10515746
HAVCR2
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs6940
rs6940
IFI16
1 1.000 0.200 1 159054878 missense variant A/T snv 0.15 0.17 0.010 1.000 1 2015 2015
dbSNP: rs855873
rs855873
AIM2
1 1.000 0.200 1 159077922 intron variant A/G snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs17810546
rs17810546
IL12A-AS1
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.810 1.000 3 2013 2015
dbSNP: rs1874886
rs1874886
IL12A-AS1
2 0.925 0.280 3 160011868 non coding transcript exon variant G/A snv 0.41 0.700 1.000 1 2016 2016
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 0.030 1.000 3 2014 2019
dbSNP: rs428888
rs428888
FCGR3A
2 0.925 0.240 1 161548496 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1965673
rs1965673
WWC1
1 1.000 0.200 5 168411232 intron variant C/G snv 6.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 1996 2013
dbSNP: rs943899383
rs943899383
F5
1 1.000 0.200 1 169586343 frameshift variant C/- delins 0.010 1.000 1 2010 2010
dbSNP: rs146597836
rs146597836
ADA2
1 1.000 0.200 22 17189987 missense variant C/T snv 1.8E-03 1.6E-03 0.700 0
dbSNP: rs750868279
rs750868279
ADA2
1 1.000 0.200 22 17203576 missense variant G/A snv 5.2E-05 4.9E-05 0.700 0
dbSNP: rs1234313
rs1234313
TNFSF4
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs3914501
rs3914501
NAALADL2
1 1.000 0.200 3 174846878 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs17633132
rs17633132
PDGFRL
1 1.000 0.200 8 17642610 splice region variant C/G;T snv 8.0E-06; 0.11 0.010 1.000 1 2013 2013
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs7574070
rs7574070
STAT4
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs7572482
rs7572482
STAT4
1 1.000 0.200 2 191150346 intron variant A/C;G snv 0.800 1.000 1 2012 2012