Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 11
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv 6
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv 6
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1517352
STAT4
0.851 0.160 2 191066738 intron variant A/C snv 0.45 5
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs17007417 0.882 0.080 2 71808541 regulatory region variant T/C snv 0.85 3
rs3821236
STAT4
0.882 0.160 2 191038032 intron variant G/A snv 0.25 3
rs10931481
STAT4
0.827 0.240 2 191090126 intron variant G/A snv 0.66 2
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 2
rs2241880
SCARNA5 ; ATG16L1
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 2
rs3024921
STAT4
0.925 0.120 2 191078546 intron variant A/T snv 3.6E-02 2
rs1143633
IL1B
0.752 0.280 2 112832890 intron variant C/G;T snv 1
rs2241883
FABP1
0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 1
rs2280235
STAT1
1.000 0.080 2 190979104 splice region variant A/G snv 0.23 1
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 1
rs587776665
CASP8
1.000 0.080 2 201285238 frameshift variant GT/- delins 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 35
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 30
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 25
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 25