Disease: Uveomeningoencephalitic Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1884444
IL23R ; C1orf141
0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs2488457
AP4B1-AS1 ; PTPN22
0.763 0.480 1 113872746 intron variant G/A;C snv 11
rs1343151
IL23R
0.752 0.400 1 67253446 intron variant G/A snv 0.41 10
rs1800779
NOS3
0.763 0.320 7 150992855 intron variant G/A;C snv 9
rs1048709
CFB ; CYP21A2
0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 8
rs2096525
MIF-AS1 ; MIF
0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 6
rs10863888
TRAF5
0.851 0.280 1 211329427 intron variant A/C;G;T snv 4
rs12569232
LOC107985258
0.882 0.280 1 211379722 intron variant G/C;T snv 4
rs573775
ATG5
0.851 0.320 6 106316991 intron variant G/A snv 0.34 4
rs13210247
TRAF3IP2-AS1 ; TRAF3IP2
0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 3
rs310241
JAK1
0.882 0.360 1 64837655 intron variant A/G snv 0.37 3
rs4795067
NOS2
0.882 0.280 17 27779649 intron variant A/G snv 0.31 3
rs4703863
ATG10
0.925 0.280 5 81980204 intron variant C/A;T snv 2