rs1463038513, APC

N. diseases: 36
Disease: Colorectal Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.030 GeneticVariation BEFREE The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. 15959913 2005
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.030 GeneticVariation BEFREE The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771 1998
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.030 GeneticVariation BEFREE These findings support a model where somatic instability of the (A)8 tract produced by the APC I1307K allele leads to increased APC gene inactivation and directly accounts for 42% of the colorectal neoplasms occurring in APC I1307K carriers. 9751605 1998