Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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