GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
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: rs398123012
rs398123012 		0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 1.000 5 2013 2018
dbSNP: rs398123015
rs398123015 		0.925 0.080 9 35737335 missense variant C/T snv
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 1.000 5 2013 2018
dbSNP: rs398123064
rs398123064 		0.925 0.280 9 35739017 missense variant C/G snv
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 1.000 3 2014 2018
dbSNP: rs398123013
rs398123013 		1.000 9 35741758 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2015
dbSNP: rs398123014
rs398123014 		1.000 9 35740833 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C2828721
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2015
dbSNP: rs398123012
rs398123012 		0.925 0.080 9 35738811 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs398123015
rs398123015 		0.925 0.080 9 35737335 missense variant C/T snv
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1448182827
rs1448182827 		1.000 0.080 9 35738148 frameshift variant G/- del 8.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1254812113
rs1254812113 		1.000 0.040 9 35740076 missense variant A/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs398123064
rs398123064 		0.925 0.280 9 35739017 missense variant C/G snv
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018