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: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
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: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2002 2017
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: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 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: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2002 2017
dbSNP: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		Nervous System Diseases 0.700 1.000 6 1996 2012
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: 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: 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: rs147484110
rs147484110 		0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs74315442
rs74315442 		0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		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