Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
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: rs13538
rs13538
NAT8 ; ALMS1P1
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: rs13538
rs13538
NAT8 ; ALMS1P1
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		G 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146

2010
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		G 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146

2010
dbSNP: rs375811360
rs375811360
NAT8 ; ALMS1P1
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352

2018
dbSNP: rs375811360
rs375811360
NAT8 ; ALMS1P1
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352

2018
dbSNP: rs7048567
rs7048567
ABCA2
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		A 0.700 GeneticVariation GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678

2019