Variant: rs199469707

present in Gene: TMEM237 present in Chromosome: 2 Position on Chromosome: 201640915 Alleles of this Variant: G/A

rs199469707 in TMEM237 gene and JOUBERT SYNDROME 14 PMID 22152675 2011 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.