Variant: rs1306231185 

    present in Gene: MKKS
    present in Chromosome: 20
    Position on Chromosome: 10407645
    Alleles of this Variant: -/TTCA

rs1306231185 in MKKS gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

rs1306231185 in MKKS gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.