Disease: Ulcerative Colitis
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
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
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
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
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
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs4728142 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 18
rs2670660
NLRP1
0.708 0.400 17 5615686 intron variant A/G snv 0.41 15
rs10174238
STAT4
0.724 0.200 2 191108308 intron variant G/A snv 0.70 14
rs6920220 0.742 0.440 6 137685367 intron variant G/A snv 0.16 14
rs2304256
TYK2
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 13
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 13
rs11889341
STAT4
0.732 0.480 2 191079016 intron variant C/T snv 0.21 12
rs11465804
IL23R
0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 10
rs2075800
HSPA1L
0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 8
rs707939
MSH5-SAPCD1 ; MSH5
0.851 0.200 6 31758911 intron variant C/A snv 0.34 0.26 5