Variant: rs1553787619 

    present in Gene: MYLK
    present in Chromosome: 3
    Position on Chromosome: 123664100
    Alleles of this Variant: C/A

rs1553787619 in MYLK gene and Megacystis PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

rs1553787619 in MYLK gene and Visceral Myopathy PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.