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
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
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 26
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
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs6920220 0.742 0.440 6 137685367 intron variant G/A snv 0.16 14
rs10954213
IRF5
0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 11
rs10499194 0.752 0.400 6 137681500 intron variant C/T snv 0.24 10
rs11893432
STAT4
0.827 0.120 2 191057148 intron variant C/G snv 0.21 5
rs17435
MECP2
0.851 0.200 X 154046529 intron variant T/A;C snv 4