Variant: rs369588002 

    present in Gene: TWNK
    present in Chromosome: 10
    Position on Chromosome: 100990470
    Alleles of this Variant: G/A

rs369588002 in TWNK gene and PERRAULT SYNDROME 5 PMID 25355836 2014 Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.