Variant: rs1555599412 

    present in Gene: MKS1
    present in Chromosome: 17
    Position on Chromosome: 58213011
    Alleles of this Variant: C/A

rs1555599412 in MKS1 gene and BARDET-BIEDL SYNDROME 13 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

rs1555599412 in MKS1 gene and JOUBERT SYNDROME 28 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

rs1555599412 in MKS1 gene and Meckel syndrome type 1 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.