present in Gene: BBS9
present in Chromosome: 7
Position on Chromosome: 33383668
Alleles of this Variant: C/T
rs137852856 in
BBS9 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.