Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801166
rs1801166
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027651
Disease:
Neoplasms
0.040 GeneticVariation BEFREE The crude and adjusted risks of neoplasia associated with the E1317Q variant were calculated. 19474113 2009
dbSNP: rs1801166
rs1801166
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027651
Disease:
Neoplasms
0.040 GeneticVariation BEFREE We compared the patterns of somatic APC mutations in tumors from patients with attenuated familial adenomatous polyposis (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations. 19701947 2009
dbSNP: rs1801166
rs1801166
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027651
Disease:
Neoplasms
0.040 GeneticVariation BEFREE But APC E1317Q sporadic mutation was found in one tumor sample. 15507235 2004
dbSNP: rs1801166
rs1801166
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0027651
Disease:
Neoplasms
0.040 GeneticVariation BEFREE The APC variant E1317Q does not appear to be associated with increased risk for colorectal neoplasia in the general population. 14578138 2003