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
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
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
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
rs3804100
TLR2
0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 36
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
rs2736340 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 22
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25 18
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
rs1143679
ITGAM
0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 14
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 14
rs204999 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 13
rs2304256
TYK2
0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 13
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 13
rs11889341
STAT4
0.732 0.480 2 191079016 intron variant C/T snv 0.21 12
rs12153855
TNXB
0.776 0.320 6 32107027 intron variant T/C snv 0.11 11