Variant: rs1057519345

present in Gene: COQ8B present in Chromosome: 19 Position on Chromosome: 40714532 Alleles of this Variant: C/T

rs1057519345 in COQ8B gene and NEPHROTIC SYNDROME, TYPE 9 PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.