Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. 8990002

1997
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. 8730280

1996
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. 8162022

1994
dbSNP: rs1114167551
rs1114167551
APC
A 0.700 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994