Variant: rs530109812

present in Gene: SDR9C7 present in Chromosome: 12 Position on Chromosome: 56934048 Alleles of this Variant: G/A

rs530109812 in SDR9C7 gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 PMID 28173123 2016 Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.