Source: ALL

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: 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: rs119490107
rs119490107
RAD54B ; FSBP
0.925 0.080 8 94399540 missense variant C/A snv 2.8E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121434507
rs121434507
PTPRJ
0.925 0.080 11 48123636 missense variant C/T snv 4.0E-05 6.3E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121434623
rs121434623
PTPN12
0.925 0.080 7 77571160 missense variant A/G snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121909242
rs121909242
PPARG
0.925 0.080 3 12416825 missense variant A/C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121913341
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1339756947
rs1339756947
MAP2K3
1.000 0.080 17 21303189 missense variant C/A;T snv 2.0E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs137853007
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
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: rs1566734
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15
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: rs28936407
rs28936407
PPARG
0.925 0.080 3 12416831 missense variant G/A snv 8.0E-06 2.1E-05
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