APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Colorectal Carcinoma ×
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: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0.861 36 1997 2017
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.853 34 1997 2017
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.909 11 2000 2016
dbSNP: rs459552
rs459552 		0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.070 1.000 7 2003 2019
dbSNP: rs777980327
rs777980327 		0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2009 2017
dbSNP: rs770649674
rs770649674 		0.807 0.120 5 112827177 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2002 2005
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs587782868
rs587782868 		0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2004 2005
dbSNP: rs121913331
rs121913331 		0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1268298845
rs1268298845 		0.882 0.120 5 112780878 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs142637152
rs142637152 		0.925 0.120 5 112767314 missense variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs1488176769
rs1488176769 		1.000 0.080 5 112707865 missense variant T/C snv 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs150973053
rs150973053 		0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2229995
rs2229995 		0.925 0.080 5 112843098 missense variant G/A snv 2.0E-02 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs41116
rs41116 		1.000 0.080 5 112845224 3 prime UTR variant T/C snv 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs530670052
rs530670052 		0.925 0.080 5 112801313 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2012 2012
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs79896135
rs79896135 		0.925 0.080 5 112707585 5 prime UTR variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121913327
rs121913327 		0.925 0.120 5 112839606 stop gained C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854573
rs137854573 		0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137854575
rs137854575 		0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0