Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
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
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 22
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 16
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 9
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 8
rs121913479
FGFR3
0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 4
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 4
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 1
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 1
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 1
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 1