Variant: rs387906836 

    present in Gene: TULP1
    present in Chromosome: 6
    Position on Chromosome: 35503763
    Alleles of this Variant: G/A

rs387906836 in TULP1 gene and LEBER CONGENITAL AMAUROSIS 15 PMID 17962469 2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.