Variant: rs137853105 

    present in Gene: MKS1
    present in Chromosome: 17
    Position on Chromosome: 58206479
    Alleles of this Variant: A/C

rs137853105 in MKS1 gene and BARDET-BIEDL SYNDROME 13 PMID 18327255 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.