Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933369 0.925 0.080 17 39724744 missense variant G/A snv 3
rs149633775 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 1
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 11
rs1057519891 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 5
rs1057519803 0.925 0.080 12 56088138 missense variant G/A snv 2
rs121918487 0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs79184941 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121918491 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs121913478 0.708 0.640 10 121515280 missense variant T/C snv 13
rs77543610 0.667 0.560 10 121520160 missense variant G/C snv 12
rs1057519044 0.752 0.440 10 121517390 missense variant C/T snv 11
rs1434545235 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 11
rs1554927408 0.742 0.480 10 121515254 missense variant C/T snv 11
rs121918505 0.851 0.080 10 121520119 missense variant A/G snv 3
rs121909144 10 3781852 missense variant G/A;T snv 1
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv 8
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 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
rs863225311
APC
0.827 0.120 5 112819347 splice region variant A/C;G snv 7
rs876660765
APC
0.851 0.120 5 112815594 splice donor variant G/A snv 6