ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 154; N. variants: 3
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome ×
Source: BEFREE ×
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: rs78001248
rs78001248 		0.925 0.080 2 73913565 missense variant C/T snv
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs797044959
rs797044959 		0.925 0.080 2 73914836 missense variant G/A snv
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2015 2015