Variant: rs780659194

present in Gene: IFT27;LOC105373021 present in Chromosome: 22 Position on Chromosome: 36763918 Alleles of this Variant: C/A;T

rs780659194 in IFT27;LOC105373021 gene and Bardet-Biedl Syndrome PMID 30761183 2019 Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.