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
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
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
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs10516487
BANK1
0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 11
rs2056626
CD247
0.882 0.080 1 167451188 intron variant T/G snv 0.30 5
rs987870
HLA-DPA1 ; HLA-DPB1
0.851 0.160 6 33075103 intron variant A/G snv 0.19 4