Variant: rs1057516672

present in Gene: HSD17B4 present in Chromosome: 5 Position on Chromosome: 119475719 Alleles of this Variant: -/A

rs1057516672 in HSD17B4 gene and Bifunctional peroxisomal enzyme deficiency PMID 23100014 2013 A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.