Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783035
rs587783035
APC
G 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: rs587783035
rs587783035
APC
G 0.700 CausalMutation CLINVAR APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. 20564245

2010
dbSNP: rs587783035
rs587783035
APC
G 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
dbSNP: rs587783035
rs587783035
APC
G 0.700 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001
dbSNP: rs587783035
rs587783035
APC
G 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: rs587783035
rs587783035
APC
G 0.700 CausalMutation CLINVAR Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms. 9298819

1997