APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
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: 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: 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
dbSNP: rs1400295986
rs1400295986
0.925 0.080 5 112838233 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs145945630
rs145945630
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1554085355
rs1554085355
0.851 0.120 5 112839461 stop gained T/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs397515734
rs397515734
0.827 0.120 5 112792494 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs587781392
rs587781392
0.827 0.120 5 112780895 stop gained C/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs779998847
rs779998847
1.000 0.080 5 112838262 missense variant G/A snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs786201856
rs786201856
0.776 0.200 5 112815507 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs863225311
rs863225311
0.827 0.120 5 112819347 splice region variant A/C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs876660765
rs876660765
0.851 0.120 5 112815594 splice donor variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
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