rs1463038513, APC

N. diseases: 36
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.040 GeneticVariation BEFREE The authors previously found the I1307K adenomatous polyposis coli (APC) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had familial colorectal neoplasia, but also in 1.6% of non-Ashkenazi control participants. 12173321 2002
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.040 GeneticVariation BEFREE To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E1317Q variants in 106 unselected cases and 88 hereditary/familial colorectal cancer cases including 22 cases of hereditary non-polyposis colorectal cancer (HNPCC) fulfilling the Amsterdam criteria. 11267860 2001
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.040 GeneticVariation BEFREE The I1307K APC gene variant was found in 6.1% of American Jews, 28% of their familial colorectal cancer cases, but not in non-Jews. 9869602 1999
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.040 GeneticVariation BEFREE The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer. 9679946 1998