Disease: Malignant tumor of colon
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 12
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 7
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 7
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 6
rs267608058
FBXO11 ; MSH6
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 6
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs587782705
TP53
0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs267608078
FBXO11 ; MSH6
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 5
rs587778134
BRIP1
0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 5
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 5
rs587780226
BRIP1
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 4
rs63750767
MSH6 ; FBXO11
0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 4
rs63751012
EPM2AIP1 ; MLH1
0.851 0.200 3 36993656 stop gained G/A;C;T snv 4
rs1434898623
MLH1
1.000 0.080 3 37040295 splice donor variant G/A snv 3
rs869312770
MSH6 ; FBXO11
0.925 0.160 2 47800829 frameshift variant AG/- delins 3
rs869312781
SMAD4
1.000 0.080 18 51058435 frameshift variant CCCCATCCCG/- delins 2
rs869312783
BMPR1A
1.000 0.080 10 86892181 frameshift variant -/TTAG delins 2