Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs597808
rs597808
ATXN2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		A 0.700 GeneticVariation GWASCAT Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases. 31527586

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0037369
Disease: Smoking
Smoking 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019
dbSNP: rs597808
rs597808
ATXN2
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018
dbSNP: rs597808
rs597808
ATXN2
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962

2018