RUBCN, rubicon autophagy regulator, 9711

N. diseases: 36; N. variants: 3
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: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.700 0
dbSNP: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167292
rs1114167292 		0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587777235
rs587777235 		1.000 3 197676907 frameshift variant G/- del
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.700 0
dbSNP: rs767982852
rs767982852 		0.882 0.080 3 197694417 missense variant T/C snv 8.0E-06 4.9E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0