Variant: rs886041072

present in Gene: SCARB2;FAM47E present in Chromosome: 4 Position on Chromosome: 76213433 Alleles of this Variant: G/-

rs886041072 in SCARB2;FAM47E gene and Action Myoclonus-Renal Failure Syndrome PMID 22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.