Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 7
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv 7
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 7
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv 8
rs876660765
APC
0.851 0.120 5 112815594 splice donor variant G/A snv 6
rs863225311
APC
0.827 0.120 5 112819347 splice region variant A/C;G snv 7
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs137854571
APC
1.000 0.120 5 112838793 stop gained C/T snv 2
rs28933379
APC
1.000 0.080 5 112838953 missense variant G/A snv 1
rs1554085355
APC
0.851 0.120 5 112839461 stop gained T/A snv 5
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs1554927408
FGFR2
0.742 0.480 10 121515254 missense variant C/T snv 11
rs121913478
FGFR2
0.708 0.640 10 121515280 missense variant T/C snv 13
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs1057519044
FGFR2
0.752 0.440 10 121517390 missense variant C/T snv 11
rs121918505
FGFR2
0.851 0.080 10 121520119 missense variant A/G snv 3
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs1434545235
FGFR2
0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 11
rs121912469
IRF1
1.000 0.080 5 132489457 missense variant T/A snv 1
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 34
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37