Variant: rs587777554 

    present in Gene: DHX38
    present in Chromosome: 16
    Position on Chromosome: 72099766
    Alleles of this Variant: G/A

rs587777554 in DHX38 gene and RETINITIS PIGMENTOSA 84 PMID 30208423 2018 Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

PMID 24737827 2014 A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.