rs777696417 in
LMOD1 gene and
Microcolon
PMID 28292896 2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
rs1553787823 in
MYLK gene and
Microcolon
PMID 28602422 2017 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.