PDCD10, programmed cell death 10, 11235

N. diseases: 68; 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: rs1057517786
rs1057517786 		0.925 0.400 3 167704889 stop gained G/A snv
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 5 2005 2016
dbSNP: rs1553760900
rs1553760900 		1.000 0.280 3 167695669 stop gained G/A snv
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 2 2013 2014
dbSNP: rs1303470125
rs1303470125 		1.000 0.280 3 167695690 stop gained G/A;C snv
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553759042
rs1553759042 		1.000 0.280 3 167687227 splice donor variant ACTT/- delins
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553759059
rs1553759059 		1.000 0.280 3 167687281 stop gained G/C snv
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553759139
rs1553759139 		0.925 0.400 3 167687610 splice region variant C/T snv
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553759139
rs1553759139 		0.925 0.400 3 167687610 splice region variant C/T snv
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553759139
rs1553759139 		0.925 0.400 3 167687610 splice region variant C/T snv
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553759139
rs1553759139 		0.925 0.400 3 167687610 splice region variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553759139
rs1553759139 		0.925 0.400 3 167687610 splice region variant C/T snv
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1553761266
rs1553761266 		1.000 0.280 3 167697114 frameshift variant CTTT/- delins
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559941951
rs1559941951 		1.000 0.280 3 167684371 frameshift variant -/A delins
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559952317
rs1559952317 		1.000 0.280 3 167695657 frameshift variant -/T delins
CUI: C1864040
Disease: Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformations 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057517786
rs1057517786 		0.925 0.400 3 167704889 stop gained G/A snv
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1057517786
rs1057517786 		0.925 0.400 3 167704889 stop gained G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2008 2008
dbSNP: rs11714980
rs11714980 		1.000 0.200 3 167735203 upstream gene variant T/C snv 0.27
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9853967
rs9853967 		1.000 0.200 3 167735251 5 prime UTR variant T/A;C;G snv
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016