Variant: rs1320809462 

    present in Gene: CTC1
    present in Chromosome: 17
    Position on Chromosome: 8234859
    Alleles of this Variant: C/G

rs1320809462 in CTC1 gene and CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.