Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272

2005

dbSNP: rs1463038513
rs1463038513
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603

1999

dbSNP: rs1801155
rs1801155
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 GeneticVariation BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272

2005

dbSNP: rs1801155
rs1801155
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 GeneticVariation BEFREE We also compared the distribution and frequency of APC mutations from colon tumors that were positive and negative for the I1307K mutation. 9869603

1999

dbSNP: rs121913331
rs121913331
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017

dbSNP: rs1288422703
rs1288422703
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017

dbSNP: rs1441008398
rs1441008398
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017

dbSNP: rs876660427
rs876660427
APC
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.010 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258

2017