SMO, smoothened, frizzled class receptor, 6608

N. diseases: 215; N. variants: 13
Disease: Irido-corneal dysgenesis ×
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: rs578002520
rs578002520 		0.882 0.200 7 129203390 missense variant G/A snv 3.2E-05 1.3E-04
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs778791846
rs778791846 		0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019