Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 23
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 20
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 16
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 16
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv 15
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 13
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv 13
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv 13
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 12
rs121913272
PIK3CA
0.752 0.400 3 179210192 missense variant T/C;G snv 11
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs587780071
TP53
0.732 0.240 17 7674951 missense variant G/A snv 11