Disease: Systemic Scleroderma
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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
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
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
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
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs2890565
UTS2
0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 15
rs228648
UTS2
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 13
rs7044343
LOC107987046 ; IL33
0.752 0.520 9 6254208 intron variant C/T snv 0.51 13
rs10499194 0.752 0.400 6 137681500 intron variant C/T snv 0.24 10
rs2280714
TNPO3
0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 10
rs11642873 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 4
rs924080 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 3