Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554079996
rs1554079996
APC
TTAAGGATGATA 0.700 CausalMutation CLINVAR

dbSNP: rs1114167588
rs1114167588
APC
TT 0.700 CausalMutation CLINVAR

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579

1993

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis? 22135120

2011

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525

2015

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR EB1 and APC bind to mDia to stabilize microtubules downstream of Rho and promote cell migration. 15311282

2004

dbSNP: rs1064792978
rs1064792978
APC
TGT 0.700 CausalMutation CLINVAR Regulated binding of adenomatous polyposis coli protein to actin. 17293347

2007

dbSNP: rs1554082082
rs1554082082
APC
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1554088600
rs1554088600
APC
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1561445097
rs1561445097
APC
TG 0.700 CausalMutation CLINVAR

dbSNP: rs878853459
rs878853459
APC
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1554084375
rs1554084375
APC
TCAGC 0.700 CausalMutation CLINVAR

dbSNP: rs1554074793
rs1554074793
APC
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1561586671
rs1561586671
APC
TAA 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs1561586671
rs1561586671
APC
TAA 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: rs1561586671
rs1561586671
APC
TAA 0.700 CausalMutation CLINVAR Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations. 24664542

2014

dbSNP: rs1561586671
rs1561586671
APC
TAA 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992

dbSNP: rs1554081884
rs1554081884
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1554084685
rs1554084685
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1561444620
rs1561444620
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1561577342
rs1561577342
APC
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1561602876
rs1561602876
APC
TA 0.700 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453

2010

dbSNP: rs1561602876
rs1561602876
APC
TA 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005