Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199957421
rs199957421
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019

dbSNP: rs5030339
rs5030339
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030339
rs5030339
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030339
rs5030339
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030339
rs5030339
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030339
rs5030339
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030359
rs5030359
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Initial discovery and in silico follow-up in 7,000 additional African American samples, confirmed two novel loci: rs5030359 within ICAM1 is associated with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) (p = 8.8×10(-7) and p = 1.5×10(-6) respectively) and a nonsense mutation rs3211938 within CD36 is associated with high-density lipoprotein cholesterol (HDL-C) levels (p = 13.5×10(-12)). 23236364

2012

dbSNP: rs5030359
rs5030359
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364

2012

dbSNP: rs5030359
rs5030359
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316

2012

dbSNP: rs5030359
rs5030359
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316

2012

dbSNP: rs5030359
rs5030359
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Initial discovery and in silico follow-up in 7,000 additional African American samples, confirmed two novel loci: rs5030359 within ICAM1 is associated with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) (p = 8.8×10(-7) and p = 1.5×10(-6) respectively) and a nonsense mutation rs3211938 within CD36 is associated with high-density lipoprotein cholesterol (HDL-C) levels (p = 13.5×10(-12)). 23236364

2012

dbSNP: rs5030361
rs5030361
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030361
rs5030361
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030361
rs5030361
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030361
rs5030361
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030383
rs5030383
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs5030397
rs5030397
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs5491
rs5491
MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs5498
rs5498
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs5498
rs5498
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs75407602
rs75407602
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018

dbSNP: rs5498
rs5498
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.090 GeneticVariation BEFREE As their main finding, they concluded that 'K469E polymorphism is associated with CHD risk and the K allele is a more significant risk factor for developing CHD amongst Chinese and Caucasians populations'. 31072912

2019

dbSNP: rs5498
rs5498
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE The ICAM1 rs5498 might be a susceptible factor for T2D, but not T1D. 30798334

2019

dbSNP: rs5498
rs5498
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.090 GeneticVariation BEFREE The pooled result showed that the <i>ICAM-1</i> gene E469K</span> polymorphism was significantly associated with an increased risk of CHD (OR = 1.20, 95% CI = 1.11-1.29, for the allele K versus allele E; OR = 1.66, 95% CI = 1.43-1.92, for the K allele carriers versus EE). 30674642

2019

dbSNP: rs5498
rs5498
Diabetes Mellitus, Non-Insulin-Dependent
0.090 GeneticVariation BEFREE Association between diabetic retinopathy in type 2 diabetes and the ICAM-1 rs5498 polymorphism: a meta-analysis of case-control studies. 30419874

2018