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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
dbSNP: rs2492965
rs2492965 		1 1.000 0.080 6 72445473 intergenic variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs4489498
rs4489498
IFNLR1
1 1.000 0.080 1 24185565 intron variant C/T snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs9380516
rs9380516 		2 0.925 0.120 6 35534425 TF binding site variant T/C snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs3017887
rs3017887
NOX4
2 0.925 0.120 11 89492920 intron variant A/C snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2014 2014
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2013 2013
dbSNP: rs1042034
rs1042034
APOB
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2018 2018
dbSNP: rs616589
rs616589
MAPKAPK3
1 1.000 0.080 3 50626198 intron variant A/G snv 0.77 0.010 1.000 1 2009 2009
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 < 0.001 1 2015 2015
dbSNP: rs910049
rs910049
TSBP1 ; TSBP1-AS1
8 0.776 0.400 6 32347950 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs2660
rs2660
OAS1
4 0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75 0.010 1.000 1 2013 2013
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1754257
rs1754257
GPR158
1 1.000 0.080 10 25385685 intron variant G/A snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2019 2019
dbSNP: rs884000
rs884000
LOC105373847
2 0.925 0.120 2 205815673 regulatory region variant C/A snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs7566605
rs7566605
LOC107985940
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 < 0.001 1 2008 2008
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2017 2019
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2013 2018
dbSNP: rs2569540
rs2569540
LDLR
1 1.000 0.080 19 11127563 non coding transcript exon variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs27647
rs27647
GHRL ; GHRLOS
2 0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs5930
rs5930
LDLR ; MIR6886
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.020 1.000 2 2009 2015