Variant: rs104894671 

    present in Gene: CRX
    present in Chromosome: 19
    Position on Chromosome: 47836381
    Alleles of this Variant: A/C

rs104894671 in CRX gene and Cone-Rod Dystrophy 2 PMID 9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

PMID 9390563 1997 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.