Variant: rs121918128 

    present in Gene: INPP5E
    present in Chromosome: 9
    Position on Chromosome: 136430391
    Alleles of this Variant: C/T

rs121918128 in INPP5E gene and Joubert syndrome 1 PMID 23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

PMID 29052317 2017 Defective ciliogenesis in INPP5E-related Joubert syndrome.

PMID 23034536 2013 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.