Variant: rs121918327 

    present in Gene: BBS12
    present in Chromosome: 4
    Position on Chromosome: 122742955
    Alleles of this Variant: C/T

rs121918327 in BBS12 gene and BARDET-BIEDL SYNDROME 12 PMID 17160889 2007 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

rs121918327 in BBS12 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.