Source: ALL

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

2013
dbSNP: rs13301354
rs13301354
ABCA2 ; FUT7 ; C9orf139
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798

2011
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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756

2014
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 GeneticVariation GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191

2012
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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		G 0.700 GeneticVariation GWASDB 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
dbSNP: rs908832
rs908832
ABCA2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 GeneticVariation BEFREE It was showed that A2M V1000I (odd ratio (OR) = 1.26, 95% confidence interval (CI) = 1.07-1.49, P = 0.007), rs908832 allele of ABCA2 (OR = 1.55, 95% CI = 1.12-2.16, P = 0.009), 2384G >A of CHAT (OR = 1.22, 95% CI = 1.00-1.49, P = 0.05) and Ser447Ter of LPL in the Northern-American population (OR = 0.56, 95% CI = 0.35-0.91, P = 0.02) were significantly associated with the risk of AD. 24039871

2013
dbSNP: rs908832
rs908832
ABCA2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 GeneticVariation BEFREE Here we confirm the association of rs908832</span> with AD in a Western European population (n = 291, P = 0.008). 16752360

2006
dbSNP: rs908832
rs908832
ABCA2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 GeneticVariation BEFREE Among the 45 SNPs we tested, one synonymous SNP (rs908832) was found significantly associated with AD in both samples. 15649702

2005
dbSNP: rs770030911
rs770030911
ABCA2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation BEFREE Our results showed that A2M V1000I polymorphism in German, Korean, Chinese, Spanish, Italian and Polish populations, rs90883 of ABCA2 gene in French, American, Swiss, Greek and Japanese populations, 2384G >A of CHAT gene in British and Korean populations and LPL Ser447Ter in the Northern-American population were associated with the risk of AD. 24039871

2013
dbSNP: rs908832
rs908832
ABCA2
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation BEFREE Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. 16752360

2006
dbSNP: rs908832
rs908832
ABCA2
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation BEFREE Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. 16752360

2006
dbSNP: rs908832
rs908832
ABCA2
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation BEFREE Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. 16752360

2006