Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation BEFREE The inverse association between rs4808801 and overall BC risk was stronger for women who had had four or more pregnancies (OR = 0.85, p = 2.0 × 10(-4) ), and absent in women who had had just one (OR = 0.96, p = 0.19, pint = 6.1 × 10(-4) ). 25227710 2015
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		0.710 GeneticVariation BEFREE The inverse association between rs4808801 and overall BC risk was stronger for women who had had four or more pregnancies (OR = 0.85, p = 2.0 × 10(-4) ), and absent in women who had had just one (OR = 0.96, p = 0.19, pint = 6.1 × 10(-4) ). 25227710 2015
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.710 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
dbSNP: rs4808801
rs4808801
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.710 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
dbSNP: rs1806980
rs1806980
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs271620
rs271620
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs78030362
rs78030362
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11670056
rs11670056
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs172032
rs172032
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs11670056
rs11670056
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1469412
rs1469412
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019
dbSNP: rs1469412
rs1469412
Entrez Id: 8178
Gene Symbol: ELL
ELL
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE We identified four independent SNPs associated with BC risk, BIVM-ERCC5 rs1323697_C (OR = 1.06, 95% CI = 1.03-1.10), GTF2H4 rs1264308_T (OR = 0.93, 95% CI = 0.89-0.97), COPS2 rs141308737_C deletion (OR = 1.06, 95% CI = 1.03-1.09) and ELL rs1469412_C (OR = 0.93, 95% CI = 0.90-0.96). 31026346 2019