Source: CURATED

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: 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: 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
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: 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
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: 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: 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
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
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: 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
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
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
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