Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. 25373533

2015

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. 24996433

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Multitarget stool DNA testing for colorectal-cancer screening. 25006736

2014

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 23429431

2013

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. 23012255

2012

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). 22855150

2012

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009

2011

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. 19042984

2008

dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation UNIPROT ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. 17060676

2006

dbSNP: rs180177034
rs180177034
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs180177035
rs180177035
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs180177037
rs180177037
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs397507466
rs397507466
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs121913338
rs121913338
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
0.800 GeneticVariation UNIPROT BRAF mutations in non-Hodgkin's lymphoma. 14612909

2003

dbSNP: rs121913341
rs121913341
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009

dbSNP: rs121913341
rs121913341
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008

dbSNP: rs121913341
rs121913341
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006

dbSNP: rs121913341
rs121913341
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.800 GeneticVariation UNIPROT Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs121913348
rs121913348
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival. 24455489

2014

dbSNP: rs121913348
rs121913348
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013

dbSNP: rs121913348
rs121913348
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF. 21917714

2011

dbSNP: rs121913348
rs121913348
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. 12198537

2002

dbSNP: rs121913351
rs121913351
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation UNIPROT Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline. 25311215

2014

dbSNP: rs121913351
rs121913351
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation UNIPROT Non-small cell lung cancer and precision medicine: a model for the incorporation of genomic features into clinical trial design. 24846033

2014