Disease: Ankylosing spondylitis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs1143634
IL1B
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 52
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 46
rs1800587
IL1A
0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 43
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18 25
rs4898
TIMP1 ; SYN1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs4728142 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 18
rs3027898
IRAK1
0.752 0.360 X 154010439 downstream gene variant C/A snv 11
rs10499194 0.752 0.400 6 137681500 intron variant C/T snv 0.24 10
rs11465804
IL23R
0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 10
rs2294020
CCDC22
0.763 0.280 X 49246763 missense variant A/G;T snv 10
rs2841277
PLD4
0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41 3
rs924080 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 3
rs2234650
IL1R1
0.925 0.080 2 102141867 5 prime UTR variant C/G;T snv 2