Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT Genome-wide association study of colorectal cancer identifies six new susceptibility loci. 26151821

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.730 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.720 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.720 GeneticVariation GWASCAT Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 24768677

2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		C 0.710 GeneticVariation GWASCAT Identification of nine new susceptibility loci for endometrial cancer. 30093612

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		C 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 26390057

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		C 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.700 GeneticVariation GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354

2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		C 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191

2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		T 0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517

2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		C 0.700 GeneticVariation GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119

2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976

2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817

2015
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017