Variant: rs1057519347

present in Gene: NUMBL;COQ8B present in Chromosome: 19 Position on Chromosome: 40692240 Alleles of this Variant: C/T

rs1057519347 in NUMBL;COQ8B gene and NEPHROTIC SYNDROME, TYPE 9 PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.