APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Colorectal Neoplasms ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913332
rs121913332 		0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 12 1992 2015
dbSNP: rs121913327
rs121913327 		0.925 0.120 5 112839606 stop gained C/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 8 1992 2015
dbSNP: rs121913328
rs121913328 		5 112839693 stop gained C/T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs74535574
rs74535574 		5 112839879 stop gained C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2014
dbSNP: rs121913326
rs121913326 		5 112839729 stop gained G/T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 5 1992 2015
dbSNP: rs121913329
rs121913329 		5 112839726 stop gained C/T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 5 1994 2014
dbSNP: rs121913331
rs121913331 		0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 5 1990 2014
dbSNP: rs121913333
rs121913333 		0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1992 2014
dbSNP: rs121913462
rs121913462 		5 112839510 stop gained G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 4 1992 2015
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs863225349
rs863225349 		1.000 0.120 5 112839531 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs869312784
rs869312784 		5 112838674 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.030 1.000 3 1998 2005
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.030 1.000 3 1998 2005
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998