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: 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: 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