rs73885319, APOL1

N. diseases: 6
Disease: Chronic kidney disease stage 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chronic kidney disease stage 5
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
Chronic kidney disease stage 5
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