Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv 6
rs34192549
EPHA2
1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 1
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv 2
rs1057519791
FGFR2
1.000 0.080 10 121518810 missense variant G/C snv 1
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs104894226
LRRC56 ; HRAS
0.658 0.560 11 534285 missense variant C/A;G;T snv 23
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs121913496
LRRC56 ; HRAS
0.724 0.440 11 533873 missense variant C/A;G;T snv 11
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 5
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv 7
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv 7
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv 7