Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553787823
rs1553787823
MYLK
TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422

2017
dbSNP: rs777696417
rs777696417
LMOD1
A 0.700 CausalMutation CLINVAR Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 28292896

2017