APOL1, apolipoprotein L1, 8542

N. diseases: 115; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0022661
Disease:
Kidney Failure, Chronic 		G 0.720 GeneticVariation GWASCAT Several variants at the <i>APOL1</i> locus were associated with ESKD including the <i>APOL1</i> G1 rs73885319 (<i>p</i> = 1.2 × 10<sup>-9</sup>). 31178898 2019
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.720 GeneticVariation BEFREE Several variants at the <i>APOL1</i> locus were associated with ESKD including the <i>APOL1</i> G1 rs73885319 (<i>p</i> = 1.2 × 10<sup>-9</sup>). 31178898 2019
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.720 GeneticVariation BEFREE We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. 20635188 2010
dbSNP: rs28480494
rs28480494
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs136161
rs136161
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0011881
Disease:
Diabetic Nephropathy 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND). 26305897 2015
dbSNP: rs60910145
rs60910145
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2675525
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT APOL1 risk variants, race, and progression of chronic kidney disease. 24206458 2013
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2675525
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 		0.700 GeneticVariation UNIPROT APOL1 risk variants, race, and progression of chronic kidney disease. 24206458 2013
dbSNP: rs1428826948
rs1428826948
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2675525
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs1428826948
rs1428826948
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0042870
Disease:
Vitamin D Deficiency 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs1428826948
rs1428826948
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0033687
Disease:
Proteinuria 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs1569534160
rs1569534160
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0042870
Disease:
Vitamin D Deficiency 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs1569534160
rs1569534160
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0033687
Disease:
Proteinuria 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs1569534160
rs1569534160
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2675525
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs2239785
rs2239785
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0178664
Disease:
Glomerulosclerosis (disorder) 		G 0.700 GeneticVariation GWASDB A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. 20668430 2010
dbSNP: rs2239785
rs2239785
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0017658
Disease:
Glomerulonephritis 		G 0.700 GeneticVariation GWASDB A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. 20668430 2010
dbSNP: rs2239785
rs2239785
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		G 0.700 GeneticVariation GWASCAT A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. 20668430 2010
dbSNP: rs71785313
rs71785313
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2675525
Disease:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR Association of trypanolytic ApoL1 variants with kidney disease in African Americans. 20647424 2010
dbSNP: rs71785313
rs71785313
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0445118
Disease:
Nephrotic range proteinuria 		A 0.700 CausalMutation CLINVAR
dbSNP: rs71785313
rs71785313
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0017668
Disease:
Focal glomerulosclerosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.020 GeneticVariation BEFREE Several variants at the <i>APOL1</i> locus were associated with ESKD including the <i>APOL1</i> G1 rs73885319 (<i>p</i> = 1.2 × 10<sup>-9</sup>). 31178898 2019
dbSNP: rs60910145
rs60910145
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.020 GeneticVariation BEFREE Two SNPs (rs73885319, rs60910145) and haplotypes (G-A-G; G1; G2) of the apolipoprotein L1 (APOL1) gene were studied in more than one population group, with similar association with prevalent CKD observed. 30340464 2018
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.020 GeneticVariation BEFREE Two SNPs (rs73885319, rs60910145) and haplotypes (G-A-G; G1; G2) of the apolipoprotein L1 (APOL1) gene were studied in more than one population group, with similar association with prevalent CKD observed. 30340464 2018
dbSNP: rs60910145
rs60910145
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.020 GeneticVariation BEFREE Notably, two APOL1 alleles, termed G1 [c.(1072A>G; 1200T>G)] and G2 (c.1212_1217del6), are strongly associated with higher rates of nondiabetic CKD and an increased risk for hypertensive end-stage renal disease. 26773863 2016
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.020 GeneticVariation BEFREE Notably, two APOL1 alleles, termed G1 [c.(1072A>G; 1200T>G)] and G2 (c.1212_1217del6), are strongly associated with higher rates of nondiabetic CKD and an increased risk for hypertensive end-stage renal disease. 26773863 2016
dbSNP: rs73885319
rs73885319
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.020 GeneticVariation BEFREE We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. 20635188 2010