Disease: Microphthalmia and mental deficiency ×
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: rs587776954
rs587776954 		0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs782655345
rs782655345 		0.925 0.320 12 6944529 start lost A/C;G snv 2.4E-05
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013