CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Occipital Encephalocele ×
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: rs1555202126
rs1555202126 		0.925 0.120 12 88071929 splice region variant G/C snv
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs376493409
rs376493409 		0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886039805
rs886039805 		0.925 0.120 12 88129872 frameshift variant AA/- delins
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0