Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.800 0.800 0 1997 2004
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 0 2004 2004
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 0 2015 2015
dbSNP: rs1021631442
rs1021631442
MSH6 ; FBXO11
0.882 0.200 2 47806279 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2012 2012
dbSNP: rs1553413710
rs1553413710
MSH6 ; FBXO11
0.882 0.200 2 47800325 missense variant C/T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2013 2013
dbSNP: rs63751012
rs63751012
MLH1 ; EPM2AIP1
0.851 0.200 3 36993656 stop gained G/A;C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 1 2015 2015
dbSNP: rs1114167435
rs1114167435
MLH1
1.000 0.080 3 37025932 frameshift variant AG/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1114167806
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs137854575
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs138213197
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1434898623
rs1434898623
MLH1
1.000 0.080 3 37040295 splice donor variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1553368590
rs1553368590
MSH2
0.882 0.200 2 47475097 missense variant T/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1553651073
rs1553651073
MLH1
0.925 0.160 3 37025834 frameshift variant CA/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1554298756
rs1554298756
PMS2
1.000 0.080 7 5989891 frameshift variant C/- del
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs267608058
rs267608058
MSH6 ; FBXO11
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs387906234
rs387906234
APC
0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs431825362
rs431825362
BRCA2
0.925 0.080 13 32363187 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587778134
rs587778134
BRIP1
0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587779018
rs587779018
MLH1
0.925 0.160 3 37008855 frameshift variant T/-;TT delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587779021
rs587779021
MLH1
0.851 0.200 3 37008905 missense variant G/A;C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587779157
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587780226
rs587780226
BRIP1
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587782705
rs587782705
TP53
0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0