SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
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: rs121918306
rs121918306 		1.000 0.080 11 66713645 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.840 1.000 7 2006 2017
dbSNP: rs397514749
rs397514749 		1.000 0.080 11 66707731 missense variant G/A snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2006 2013
dbSNP: rs769987150
rs769987150 		11 66705361 stop gained C/A;T snv 8.2E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2006 2017
dbSNP: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C0339666
Disease: Nystagmus and other irregular eye movements
Nystagmus and other irregular eye movements 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs145522851
rs145522851 		0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs146859515
rs146859515 		1.000 11 66705395 stop gained G/A;T snv 4.1E-06
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs1554984881
rs1554984881 		1.000 0.080 11 66705399 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554986337
rs1554986337 		1.000 0.080 11 66708181 missense variant C/T snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs373728971
rs373728971 		1.000 11 66701231 frameshift variant GTGAG/-;GTGAGGTGAG delins
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		0.700 0
dbSNP: rs797046006
rs797046006 		11 66715958 missense variant T/C snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs875989881
rs875989881 		1.000 0.080 11 66715235 missense variant A/G snv
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1318256630
rs1318256630 		11 66708251 missense variant G/A snv 4.1E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1318256630
rs1318256630 		11 66708251 missense variant G/A snv 4.1E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs397514749
rs397514749 		1.000 0.080 11 66707731 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2020 2020