Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1019221239
rs1019221239
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517558
rs1057517558
APC
T 0.700 CausalMutation CLINVAR Eleven novel APC mutations identified in Portuguese FAP families. 10923044

2000
dbSNP: rs1057517558
rs1057517558
APC
T 0.700 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994
dbSNP: rs1057517558
rs1057517558
APC
T 0.700 CausalMutation CLINVAR Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil. 26309368

2015
dbSNP: rs1057517558
rs1057517558
APC
T 0.700 CausalMutation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120

2011
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347

2007
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579

1993
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. 15311282

2004
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs1057517568
rs1057517568
APC
A 0.700 CausalMutation CLINVAR Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525

2015
dbSNP: rs1057518901
rs1057518901
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503257
rs1060503257
APC
GT 0.700 CausalMutation CLINVAR Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. 15131404

2004
dbSNP: rs1060503257
rs1060503257
APC
GT 0.700 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs1060503259
rs1060503259
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503263
rs1060503263
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503282
rs1060503282
APC
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503287
rs1060503287
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503299
rs1060503299
APC
G 0.700 CausalMutation CLINVAR Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. 10094547

1999
dbSNP: rs1060503299
rs1060503299
APC
G 0.700 CausalMutation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008
dbSNP: rs1060503299
rs1060503299
APC
G 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs1060503299
rs1060503299
APC
G 0.700 CausalMutation CLINVAR Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families. 9452101

1998
dbSNP: rs1060503299
rs1060503299
APC
A 0.700 CausalMutation CLINVAR