AGT, angiotensinogen, 183

N. diseases: 765; N. variants: 43
Disease: ABLEPHARON-MACROSTOMIA SYNDROME ×
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: rs699
rs699 		0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2010 2010