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: 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: rs136175
rs136175
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I
0.010 GeneticVariation BEFREE The Lys166Glu and Ile244Met polymorphisms in apoL-I gene are associated with TG levels in subjects with endogenous hypertriglyceridemia in Chinese. 19239905 2009
dbSNP: rs2239785
rs2239785
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0023817
Disease:
Hyperlipoproteinemia Type I
0.010 GeneticVariation BEFREE The Lys166Glu and Ile244Met polymorphisms in apoL-I gene are associated with TG levels in subjects with endogenous hypertriglyceridemia in Chinese. 19239905 2009
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: 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: 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
dbSNP: rs60910145
rs60910145
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 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: rs60910145
rs60910145
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 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: rs136175
rs136175
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Association study of apolipoprotein L-I Lys166Glu and Ile244Met gene variants with obesity in Chinese subjects. 22239288 2012
dbSNP: rs2239785
rs2239785
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Association study of apolipoprotein L-I Lys166Glu and Ile244Met gene variants with obesity in Chinese subjects. 22239288 2012
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: 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: rs71785313
rs71785313
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE In dominant and log-additive genetic models, significant associations were found between rs71785313 and systolic blood pressure (both p ≤ 0.025), with a significant statistical interaction by diabetes status, p = 0.022, reflecting a negative non-significant effect in nondiabetics and a positive effect in diabetics. 26112018 2015
dbSNP: rs71785313
rs71785313
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE In dominant and log-additive genetic models, significant associations were found between rs71785313 and systolic blood pressure (both p ≤ 0.025), with a significant statistical interaction by diabetes status, p = 0.022, reflecting a negative non-significant effect in nondiabetics and a positive effect in diabetics. 26112018 2015