Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs9275572 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 15
rs3118470
IL2RA
0.752 0.360 10 6059750 intron variant T/A;C snv 10
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv 7
rs1800520
AIRE
0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 5
rs111238176
FASLG
0.851 0.160 1 172665840 missense variant A/G snv 4
rs6457452
HSPA1B
0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05 4
rs6848139 1.000 0.040 4 122473886 intergenic variant A/C;G snv 3
rs1024161 0.925 0.160 2 203857029 intergenic variant T/A;C snv 2
rs12183587
RAET1M
1.000 0.040 6 150033472 non coding transcript exon variant T/C;G snv 1
rs247459
VDAC1
1.000 0.040 5 134046765 intergenic variant T/A;C snv 1
rs2666138 1.000 0.040 2 36104014 intergenic variant G/A;T snv 1
rs7682481 1.000 0.040 4 122602871 regulatory region variant G/A;C snv 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs9982439 1.000 0.040 21 42329090 regulatory region variant T/C snv 3.1E-02 1
rs1431704
MIR924HG
1.000 0.040 18 39273770 intron variant T/C snv 7.0E-02 1
rs4738296
KCNB2
1.000 0.040 8 72945304 upstream gene variant A/C snv 7.9E-02 1
rs17479692
SLC16A12
1.000 0.040 10 89528702 intron variant T/G snv 9.3E-02 1
rs11224294 0.925 0.080 11 100578431 regulatory region variant T/C snv 9.9E-02 2
rs3099844
MICB-DT
0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 13
rs6906608
IRF4
1.000 0.040 6 411554 downstream gene variant C/A snv 0.11 1
rs3789129
ACOXL
1.000 0.040 2 110940463 intron variant A/C snv 0.18 1
rs17031716
MAGI3
1.000 0.040 1 113609225 intron variant C/A snv 0.18 1
rs7228576
LINC01254 ; LOC105371988
1.000 0.040 18 10408495 intron variant C/T snv 0.19 1