Variant: rs140776870 

    present in Gene: PCARE
    present in Chromosome: 2
    Position on Chromosome: 29072418
    Alleles of this Variant: A/T

rs140776870 in PCARE gene and RETINITIS PIGMENTOSA 54 PMID 21412943 2011 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

PMID 20398886 2010 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

PMID 20398884 2010 Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.