Variant: rs752762669

present in Gene: BBS12 present in Chromosome: 4 Position on Chromosome: 122743422 Alleles of this Variant: CAGATGCAA/-

rs752762669 in BBS12 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.