Variant: rs145549969 

    present in Gene: IFT140
    present in Chromosome: 16
    Position on Chromosome: 1525280
    Alleles of this Variant: A/G

rs145549969 in IFT140 gene and RETINITIS PIGMENTOSA 80 PMID 26968735 2016 Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

PMID 26216056 2015 Mutations in human IFT140 cause non-syndromic retinal degeneration.

PMID 26359340 2016 The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.