Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4859682
rs4859682
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
A 0.800 GeneticVariation GWASCAT Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. 23535967

2013

dbSNP: rs17319721
rs17319721
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
A 0.800 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199

2016

dbSNP: rs13146355
rs13146355
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement
G 0.800 GeneticVariation GWASCAT Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. 20700443

2010

dbSNP: rs10032549
rs10032549
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
A 0.800 GeneticVariation GWASCAT Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. 23535967

2013

dbSNP: rs9992101
rs9992101
Creatinine measurement, serum (procedure)
0.700 GeneticVariation GWASCAT Genetic loci influencing kidney function and chronic kidney disease. 20383145

2010

dbSNP: rs7675258
rs7675258
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs7654754
rs7654754
CUI: C0001925
Disease: Albuminuria
Albuminuria
G 0.700 GeneticVariation GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432

2018

dbSNP: rs6854652
rs6854652
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

dbSNP: rs6848817
rs6848817
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

dbSNP: rs6838801
rs6838801
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017

dbSNP: rs6838801
rs6838801
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017

dbSNP: rs6810716
rs6810716
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

dbSNP: rs568240689
rs568240689
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
C 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019

dbSNP: rs55940751
rs55940751
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878

2017

dbSNP: rs5020545
rs5020545
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. 27588450

2016

dbSNP: rs4859682
rs4859682
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs4241595
rs4241595
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

dbSNP: rs3923380
rs3923380
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome
A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. 26853712

2016

dbSNP: rs28817415
rs28817415
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019

dbSNP: rs28817415
rs28817415
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019

dbSNP: rs28817415
rs28817415
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019

dbSNP: rs2870238
rs2870238
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs2870238
rs2870238
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs1986734
rs1986734
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
T 0.700 GeneticVariation GWASCAT Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. 27005778

2016

dbSNP: rs1986734
rs1986734
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
0.700 GeneticVariation GWASCAT Common variants at 5q22 associate with pediatric eosinophilic esophagitis. 20208534

2010