LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
Disease: Fetal megacystis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs777696417
rs777696417 		0.882 0.120 1 201899905 stop gained G/A;C snv
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017