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: rs27432
rs27432
ERAP1 ; LOC102724748
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9266150
rs9266150
HLA-B ; MIR6891
3 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs27524
rs27524
CAST ; ERAP1
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
dbSNP: rs10733113
rs10733113 		3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs10865331
rs10865331 		5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1295685
rs1295685
IL13 ; TH2LCRR
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2248374
rs2248374
ERAP1 ; ERAP2
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2675662
rs2675662
CAMK2G
2 0.925 0.040 10 73839369 intron variant A/G snv 0.55 0.700 1.000 1 2015 2015
dbSNP: rs3135388
rs3135388
HLA-DRA
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2013 2013
dbSNP: rs4561177
rs4561177
RDX ; ZC3H12C
6 0.807 0.120 11 110091706 intron variant A/G snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs694739
rs694739
LOC102723878
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs7552167
rs7552167 		6 0.807 0.120 1 24192153 upstream gene variant A/G snv 0.87 0.700 1.000 1 2015 2015
dbSNP: rs3802826
rs3802826
ETS1
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7637230
rs7637230
LINC02085
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs26653
rs26653
ERAP1
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs12489120
rs12489120
BHLHE40 ; BHLHE40-AS1
1 1.000 0.040 3 4978778 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4845454
rs4845454 		2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 2 2015 2018
dbSNP: rs6704688
rs6704688
CASP8
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs1020760
rs1020760
NFKB1
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs3739390
rs3739390
ANGPT2 ; MCPH1
1 1.000 0.040 8 6562969 5 prime UTR variant C/G snv 6.7E-02 5.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs201285077
rs201285077
CARD14
3 0.882 0.040 17 80198545 missense variant C/G;T snv 4.0E-06; 2.3E-04 3.1E-04 0.010 1.000 1 2016 2016