Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254090
rs879254090
APC
C 0.700 CausalMutation CLINVAR Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis. 27000756

2016

dbSNP: rs1060503318
rs1060503318
APC
T 0.700 CausalMutation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978

2015

dbSNP: rs1064793535
rs1064793535
APC
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs1114167579
rs1114167579
APC
C 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs121913224
rs121913224
APC
T 0.700 CausalMutation CLINVAR Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis. 26422110

2015

dbSNP: rs121913333
rs121913333
APC
T 0.700 CausalMutation CLINVAR Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features. 25832318

2015

dbSNP: rs137854575
rs137854575
APC
A 0.700 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015

dbSNP: rs145945630
rs145945630
APC
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs1554088762
rs1554088762
APC
A 0.700 CausalMutation CLINVAR Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation. 27081525

2015

dbSNP: rs397515734
rs397515734
APC
T 0.700 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015

dbSNP: rs761458613
rs761458613
APC
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs786201134
rs786201134
APC
A 0.700 CausalMutation CLINVAR Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic. 26023681

2015

dbSNP: rs786201801
rs786201801
APC
T 0.700 CausalMutation CLINVAR Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features. 25832318

2015

dbSNP: rs786202995
rs786202995
APC
T 0.700 CausalMutation CLINVAR Tumor genome analysis includes germline genome: are we ready for surprises? 25123297

2015

dbSNP: rs863225370
rs863225370
APC
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs1060503323
rs1060503323
APC
A 0.700 CausalMutation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014

dbSNP: rs1114167580
rs1114167580
APC
G 0.700 CausalMutation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014

dbSNP: rs121913224
rs121913224
APC
T 0.700 CausalMutation CLINVAR Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations. 24664542

2014

dbSNP: rs1801155
rs1801155
APC
A 0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014

dbSNP: rs397515734
rs397515734
APC
T 0.700 CausalMutation CLINVAR A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing. 24735542

2014

dbSNP: rs587783031
rs587783031
APC
GA 0.700 CausalMutation CLINVAR Duodenal adenomatosis in Japanese patients with familial adenomatous polyposis. 24750145

2014

dbSNP: rs863224820
rs863224820
APC
G 0.700 CausalMutation CLINVAR Fatal extraintestinal adrenal malignancy in a 12-year-old girl with familial adenomatous polyposis. 23575299

2014

dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014

dbSNP: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014

dbSNP: rs876659460
rs876659460
APC
G 0.700 GeneticVariation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014