Variant: rs121918130 

    present in Gene: INPP5E
    present in Chromosome: 9
    Position on Chromosome: 136433182
    Alleles of this Variant: G/A;T

rs121918130 in INPP5E gene and Familial aplasia of the vermis PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

rs121918130 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 23034536 2013 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

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