CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
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: rs386833440
rs386833440 		1.000 0.080 21 43774658 splice region variant C/T snv
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs386833443
rs386833443 		1.000 0.080 21 43776204 splice region variant C/T snv
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2018 2018
dbSNP: rs121909346
rs121909346 		1.000 0.080 21 43774287 missense variant T/G snv
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569006250
rs1569006250 		1.000 0.040 21 43776206 stop gained G/A snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 0
dbSNP: rs312262707
rs312262707 		1.000 0.080 21 43774639 splice donor variant GAGGCCCACACTCTACCT/- delins
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs312262708
rs312262708 		1.000 0.080 21 43774677 missense variant C/T snv 1.4E-05
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386833439
rs386833439 		1.000 0.080 21 43774701 stop gained G/T snv 7.0E-06
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs386833441
rs386833441 		1.000 0.080 21 43774332 splice acceptor variant T/C snv
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs864309482
rs864309482 		1.000 0.080 21 43774637 splice donor variant CTCCTGAGGCCCACACTCTA/TT delins
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs74315443
rs74315443 		1.000 0.080 21 43776260 missense variant C/A;G snv 8.0E-06
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 1 1997 1997
dbSNP: rs796943858
rs796943858 		0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2002 2017
dbSNP: rs796943858
rs796943858 		0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2002 2017
dbSNP: rs796943858
rs796943858 		0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 5 1997 2008
dbSNP: rs796943858
rs796943858 		0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs545986367
rs545986367 		0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 8 2002 2017
dbSNP: rs545986367
rs545986367 		0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2002 2017
dbSNP: rs545986367
rs545986367 		0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 3 1996 2016
dbSNP: rs545986367
rs545986367 		0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 11 1996 2016
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0