Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv 19
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 9
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs2073658
USF1
0.882 0.200 1 161040972 intron variant C/T snv 0.21 1
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 1
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
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
rs754688962
SF3B1
0.851 0.200 2 197402637 missense variant T/C;G snv 5
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs587776665
CASP8
1.000 0.080 2 201285238 frameshift variant GT/- delins 1
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
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 34
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28