Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973

2019
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943

2015
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943

2015
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		A 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs113600793
rs113600793
EFCAB13
CUI: C2697760
Disease: Interleukin 12 Measurement
Interleukin 12 Measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323

2017
dbSNP: rs113600793
rs113600793
EFCAB13
CUI: C2825877
Disease: Interferon Gamma Measurement
Interferon Gamma Measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323

2017
dbSNP: rs113600793
rs113600793
EFCAB13
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323

2017
dbSNP: rs1912483
rs1912483
EFCAB13
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs62076505
rs62076505
EFCAB13
CUI: C0596887
Disease: mathematical ability
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		A 0.700 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs7206971
rs7206971
EFCAB13
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs118004742
rs118004742
EFCAB13
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 GeneticVariation BEFREE The HDAC4 (2q37.2) variant rs73000144 (OR = 14.6, p = 0.018) and the EFCAB13 (17q21.3) variant rs118004742 (OR = 1.8, p = 0.048) were overrepresented in patients with familial PrCa. 25335771

2015
dbSNP: rs118004742
rs118004742
EFCAB13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 GeneticVariation BEFREE The HDAC4 (2q37.2) variant rs73000144 (OR = 14.6, p = 0.018) and the EFCAB13 (17q21.3) variant rs118004742 (OR = 1.8, p = 0.048) were overrepresented in patients with familial PrCa. 25335771

2015