VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Cohen syndrome ×
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: rs120074149
rs120074149 		1.000 0.320 8 99717219 missense variant T/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 2003 2009
dbSNP: rs120074153
rs120074153 		1.000 0.320 8 99784394 missense variant G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 2003 2009
dbSNP: rs120074155
rs120074155 		1.000 0.320 8 99818473 missense variant T/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 2003 2009
dbSNP: rs28940272
rs28940272 		1.000 0.320 8 99820031 missense variant A/G snv 3.2E-03 3.9E-03
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 2003 2009
dbSNP: rs386834104
rs386834104 		1.000 0.320 8 99720944 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 6 2003 2009
dbSNP: rs180177366
rs180177366 		1.000 0.320 8 99717374 splice donor variant G/A;T snv 4.0E-05 7.0E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 6 2004 2015
dbSNP: rs386834080
rs386834080 		1.000 0.320 8 99442617 stop gained C/T snv 4.0E-05 1.4E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2007 2010
dbSNP: rs386834113
rs386834113 		1.000 0.320 8 99818529 stop gained C/T snv 1.6E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2009 2014
dbSNP: rs386834119
rs386834119 		1.000 0.320 8 99832368 splice acceptor variant G/A;C;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2004 2014
dbSNP: rs120074150
rs120074150 		1.000 0.320 8 99720973 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2003 2015
dbSNP: rs141703746
rs141703746 		1.000 0.320 8 99275256 splice donor variant T/C;G snv 8.0E-06; 1.2E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2010
dbSNP: rs1554566596
rs1554566596 		1.000 0.320 8 99818712 splice acceptor variant G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2010
dbSNP: rs1554588353
rs1554588353 		1.000 0.320 8 99871446 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2010
dbSNP: rs1563908020
rs1563908020 		1.000 0.320 8 99766972 splice donor variant T/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2010
dbSNP: rs180177356
rs180177356 		1.000 0.320 8 99156609 stop gained C/A;T snv 1.2E-05; 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2003 2010
dbSNP: rs180177363
rs180177363 		1.000 0.320 8 99641938 frameshift variant -/AG delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2003 2010
dbSNP: rs386834061
rs386834061 		0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2015
dbSNP: rs386834091
rs386834091 		1.000 0.320 8 99521012 splice donor variant T/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2009 2014
dbSNP: rs761273297
rs761273297 		1.000 0.320 8 99556655 splice donor variant T/C snv 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2010
dbSNP: rs786204456
rs786204456 		1.000 0.320 8 99875503 frameshift variant CCAGCTGTTCT/G delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2004 2016
dbSNP: rs120074151
rs120074151 		1.000 0.320 8 99511275 stop gained G/T snv 8.0E-06 3.5E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2004 2007
dbSNP: rs144539572
rs144539572 		1.000 0.320 8 99102976 stop gained C/T snv 2.0E-05 7.7E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2013
dbSNP: rs180177354
rs180177354 		1.000 0.320 8 99135674 stop gained C/T snv 1.2E-05 2.1E-05
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2004 2006
dbSNP: rs180177360
rs180177360 		1.000 0.320 8 99556552 stop gained G/A;C;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2006 2011
dbSNP: rs386834055
rs386834055 		0.925 0.320 8 99853469 frameshift variant -/A delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2012 2016