Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12500824
rs12500824
SHROOM3
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs7654754
rs7654754
SHROOM3
CUI: C0001925
Disease: Albuminuria
Albuminuria 		G 0.700 GeneticVariation GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432

2018
dbSNP: rs1986734
rs1986734
SHROOM3
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: rs28817415
rs28817415
SHROOM3
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: rs6838801
rs6838801
SHROOM3 ; LOC105377290
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: rs6838801
rs6838801
SHROOM3 ; LOC105377290
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: rs12500824
rs12500824
SHROOM3
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs9992101
rs9992101
SHROOM3
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Genetic loci influencing kidney function and chronic kidney disease. 20383145

2010
dbSNP: rs17319721
rs17319721
SHROOM3
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199

2016
dbSNP: rs17319721
rs17319721
SHROOM3
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146

2010
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372

2017
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0011847
Disease: Diabetes
Diabetes 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs1986734
rs1986734
SHROOM3
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		0.700 GeneticVariation GWASCAT Common variants at 5q22 associate with pediatric eosinophilic esophagitis. 20208534

2010
dbSNP: rs4859682
rs4859682
SHROOM3
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
SHROOM3
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: rs10032549
rs10032549
SHROOM3
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: rs5020545
rs5020545
SHROOM3
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: rs28817415
rs28817415
SHROOM3
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: rs148172770
rs148172770
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443

2018
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		G 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs13146355
rs13146355
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372

2017
dbSNP: rs111449836
rs111449836
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766

2019