Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs786202497
CHEK2
0.882 0.200 22 28719423 frameshift variant C/- del 4
rs63751012
EPM2AIP1 ; MLH1
0.851 0.200 3 36993656 stop gained G/A;C;T snv 4
rs529008617
MUTYH
0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 4
rs1021631442
FBXO11 ; MSH6
0.882 0.200 2 47806279 missense variant G/A snv 3
rs1553368590
MSH2
0.882 0.200 2 47475097 missense variant T/A snv 3
rs1553413710
MSH6 ; FBXO11
0.882 0.200 2 47800325 missense variant C/T snv 3
rs864622607
MSH6 ; FBXO11
0.882 0.200 2 47803678 missense variant T/G snv 3
rs730881833
MUTYH
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 3
rs35352891
MUTYH
0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04 1
rs863224501
MUTYH
0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05 1
rs8042919
TRPM7
0.851 0.160 15 50586433 missense variant G/A;T snv 8.5E-02 1