Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12654264
rs12654264
HMGCR
CUI: C3888197
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs12654264
rs12654264
HMGCR
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044

2008
dbSNP: rs12654264
rs12654264
HMGCR
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASDB Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044

2008
dbSNP: rs12654264
rs12654264
HMGCR
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044

2008
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation BEFREE We evaluated the association of a single nucleotide polymorphism (rs17238540) in the HMGCR gene with lipid-lowering response to statins in a large population-based cohort of patients with diabetes. 18815589

2008
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation BEFREE We evaluated the association of a single nucleotide polymorphism (rs17238540) in the HMGCR gene with lipid-lowering response to statins in a large population-based cohort of patients with diabetes. 18815589

2008
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906

2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906

2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		T 0.700 GeneticVariation GWASDB Common variants at 30 loci contribute to polygenic dyslipidemia. 19060906

2009
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		G 0.700 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3761740
rs3761740
HMGCR
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911

2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. 19197348

2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		T 0.700 GeneticVariation GWASDB Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. 19197348

2009
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 GeneticVariation BEFREE No association with PCOS was observed.SNP rs4629571 was associated with increased insulin resistance. 19327767

2010
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 GeneticVariation BEFREE No association with PCOS was observed.SNP rs4629571 was associated with increased insulin resistance. 19327767

2010
dbSNP: rs3846662
rs3846662
HMGCR
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation BEFREE The LDL-associated SNP, rs3846662, appears to confer susceptibility to MI in Japanese. 20145341

2010
dbSNP: rs12654264
rs12654264
HMGCR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Compared with nonusers, the unadjusted odds ratio of CRC among statin users with the A/A genotype of rs12654264 in HMGCR was 0.3 (95% confidence interval, 0.18-0.51) and among statin users with the T/T genotype was 0.66 (95% confidence interval, 0.41-1.06; P-interaction = 0.0012). 20403997

2010
dbSNP: rs3761740
rs3761740
HMGCR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation BEFREE We investigated the influence of the -911C>A polymorphism (rs3761740) in the hydroxy-methyl-glutaryl CoA reductase (HMGCR) gene promoter on basal and regulated transcription, plasma cholesterol levels and the association with AD. 20450896

2010
dbSNP: rs12916
rs12916
HMGCR ; CERT1
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs12916
rs12916
HMGCR ; CERT1
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010
dbSNP: rs12916
rs12916
HMGCR ; CERT1
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565

2010