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
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
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
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
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 31
rs2276109
MMP12
0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 18
rs2670660
NLRP1
0.708 0.400 17 5615686 intron variant A/G snv 0.41 15
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 14
rs10865710
PPARG
0.763 0.360 3 12311699 intron variant C/G snv 0.25 13
rs7044343
LOC107987046 ; IL33
0.752 0.520 9 6254208 intron variant C/T snv 0.51 13
rs10036748
TNIP1
0.752 0.360 5 151078585 intron variant C/A;T snv 11
rs11465804
IL23R
0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 10
rs987870
HLA-DPA1 ; HLA-DPB1
0.851 0.160 6 33075103 intron variant A/G snv 0.19 4
rs3128965
HLA-DPB1
0.882 0.280 6 33088122 3 prime UTR variant G/A snv 0.14 3
rs3894194
GSDMA
0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 3