Variant: rs863225205 

    present in Gene: MKS1;LPO;LOC105371841
    present in Chromosome: 17
    Position on Chromosome: 58219176
    Alleles of this Variant: C/A

rs863225205 in MKS1;LPO;LOC105371841 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs863225205 in MKS1;LPO;LOC105371841 gene and Meckel syndrome type 1 PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.