Variant: rs1060505038 

    present in Gene: INPP5K
    present in Chromosome: 17
    Position on Chromosome: 1513875
    Alleles of this Variant: A/G

rs1060505038 in INPP5K gene and MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY PMID 28190459 2017 Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

PMID 28190456 2017 Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.