Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000

dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000

dbSNP: rs121913328
rs121913328
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000

dbSNP: rs121913327
rs121913327
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention. 23845441

2013

dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. 23204322

2012

dbSNP: rs121913327
rs121913327
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. 23204322

2012

dbSNP: rs121913328
rs121913328
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014

dbSNP: rs727502902
rs727502902
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
TGTA 0.700 CausalMutation CLINVAR Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 19794125

2009

dbSNP: rs113488022
rs113488022
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.790 CausalMutation CLINVAR Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. 22180495

2012

dbSNP: rs121913361
rs121913361
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
G 0.700 CausalMutation CLINVAR Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. 22180495

2012

dbSNP: rs104894229
rs104894229
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
G 0.700 GeneticVariation CLINVAR APC inhibits ERK pathway activation and cellular proliferation induced by RAS. 16478791

2006

dbSNP: rs74535574
rs74535574
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913462
rs121913462
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913333
rs121913333
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913332
rs121913332
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913328
rs121913328
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913327
rs121913327
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs121913326
rs121913326
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992

dbSNP: rs112445441
rs112445441
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. 22734028

2012

dbSNP: rs112445441
rs112445441
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259

2010

dbSNP: rs121913250
rs121913250
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. 17699718

2007

dbSNP: rs121913250
rs121913250
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. 17699718

2007

dbSNP: rs121913237
rs121913237
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. 17699718

2007

dbSNP: rs121913237
rs121913237
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. 17699718

2007