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: rs5844572
rs5844572
MIF ; MIF-AS1
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2018 2018
dbSNP: rs112852289
rs112852289
CD6 ; LOC105369326
1 1.000 0.080 11 61008833 frameshift variant -/T ins 5.1E-06; 5.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2018 2018
dbSNP: rs11352835
rs11352835
OAS1
1 1.000 0.080 12 112931911 frameshift variant A/- del 0.74 0.010 1.000 1 2012 2012
dbSNP: rs10045431
rs10045431 		4 0.851 0.240 5 159387525 intron variant A/C snv 0.78 0.710 0.500 2 2011 2012
dbSNP: rs3129871
rs3129871
HLA-DRA
5 0.827 0.320 6 32438565 upstream gene variant A/C snv 0.59 0.800 1.000 2 2010 2013
dbSNP: rs669607
rs669607
LINC01967
1 1.000 0.080 3 28029953 intron variant A/C snv 0.38 0.800 1.000 2 2011 2016
dbSNP: rs12599600
rs12599600
RMI2 ; LOC105371082
1 1.000 0.080 16 11340245 intron variant A/C snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs12948909
rs12948909
CAVIN1
3 0.925 0.120 17 42418584 intron variant A/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1342326
rs1342326 		9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1458175
rs1458175
PDZRN4
1 1.000 0.080 12 41572059 intron variant A/C snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs1611715
rs1611715 		1 1.000 0.080 6 29861705 intron variant A/C snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs17519972
rs17519972
GLMN ; RPAP2
2 1.000 0.080 1 92362948 intron variant A/C snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs17758761
rs17758761
ANKFN1
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs2524095
rs2524095
HLA-B ; LINC02571 ; LOC112267902
2 0.925 0.160 6 31298340 intron variant A/C snv 0.65 0.700 1.000 1 2007 2007
dbSNP: rs2647046
rs2647046 		3 0.882 0.200 6 32700559 TF binding site variant A/C snv 0.64 0.700 1.000 1 2007 2007
dbSNP: rs2726518
rs2726518
TET2 ; TET2-AS1
1 1.000 0.080 4 105252042 intron variant A/C snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs437179
rs437179
CYP21A2 ; SKIV2L
3 0.882 0.160 6 31961237 missense variant A/C snv 0.76 0.78 0.700 1.000 1 2010 2010
dbSNP: rs464138
rs464138
MX1
1 1.000 0.080 21 41426246 5 prime UTR variant A/C snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs4807569
rs4807569
SBNO2
2 0.925 0.120 19 1123379 intron variant A/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs4948088
rs4948088 		2 0.925 0.160 7 50959497 intron variant A/C snv 0.96 0.700 1.000 1 2011 2011
dbSNP: rs522127
rs522127
LINC01100 ; IL12A-AS1
1 1.000 0.080 3 160016881 intron variant A/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs6017342
rs6017342
LINC01620
3 0.925 0.120 20 44436388 non coding transcript exon variant A/C snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs630379
rs630379
CYP21A2 ; NELFE
3 0.882 0.200 6 31954477 intron variant A/C snv 0.77 0.79 0.700 1.000 1 2010 2010