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: rs2284553
rs2284553
IFNGR2
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs2517459
rs2517459 		6 0.882 0.160 6 30929245 downstream gene variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2532932
rs2532932 		2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 < 0.001 1 2017 2017
dbSNP: rs2853744
rs2853744
SPP1
4 0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs2856718
rs2856718 		8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs303218
rs303218
IFIT1 ; LIPA
1 1.000 0.080 10 89392836 intron variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018
dbSNP: rs3747206
rs3747206
PNPLA3
3 0.882 0.160 22 43928850 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs3761549
rs3761549
FOXP3
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs414171
rs414171
CISH ; MAPKAPK3
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4711998
rs4711998
IL17A
16 0.708 0.360 6 52185555 upstream gene variant A/G snv 0.64 0.010 1.000 1 2017 2017
dbSNP: rs5743836
rs5743836
TLR9
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs6462008
rs6462008 		1 1.000 0.080 7 27309860 intergenic variant G/T snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs6715787
rs6715787
EPAS1
4 0.851 0.200 2 46349033 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs676925
rs676925
CXCR5 ; BCL9L
1 1.000 0.080 11 118894979 3 prime UTR variant C/G snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs705382
rs705382
PON1
5 0.827 0.200 7 95325909 upstream gene variant C/G snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs7453920
rs7453920
HLA-DQB2
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7944135
rs7944135 		1 1.000 0.080 11 59253514 upstream gene variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs8105790
rs8105790 		2 0.925 0.160 19 39241861 upstream gene variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs907715
rs907715
IL21
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs9275319
rs9275319 		6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.010 1.000 1 2015 2015