Disease: De Sanctis-Cacchione 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: rs1554794360
rs1554794360 		0.882 0.400 10 49530824 frameshift variant G/- delins
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554794640
rs1554794640 		0.882 0.400 10 49532751 frameshift variant G/- delins
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121917902
rs121917902 		0.790 0.440 10 49524073 stop gained G/A snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2008 2011
dbSNP: rs151242354
rs151242354 		0.925 0.400 10 49482689 stop gained G/A snv 6.4E-05 9.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2010 2016
dbSNP: rs121917904
rs121917904 		0.925 0.400 10 49482809 stop gained G/A snv 2.4E-05 3.5E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2008 2016
dbSNP: rs185142838
rs185142838 		0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2016
dbSNP: rs121917901
rs121917901 		0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs1554787509
rs1554787509 		0.882 0.400 10 49474065 stop gained G/A snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs376526037
rs376526037 		0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs751448793
rs751448793 		0.882 0.400 10 49474056 stop gained G/A snv 2.4E-05 1.4E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs751838040
rs751838040 		0.925 0.400 10 49530797 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs762976316
rs762976316 		0.882 0.400 10 49458898 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs906755254
rs906755254 		0.882 0.400 10 49472461 stop gained G/A snv 4.0E-06 4.2E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 1998 1998
dbSNP: rs577021605
rs577021605 		0.882 0.400 10 49532904 stop gained G/A snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs767247987
rs767247987 		0.882 0.400 10 49483384 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs771781694
rs771781694 		0.882 0.400 10 49530737 stop gained G/A;T snv 2.8E-05; 4.0E-06
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs1554794620
rs1554794620 		0.882 0.400 10 49532705 frameshift variant GC/- delins
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs786205171
rs786205171 		0.882 0.400 10 49470424 frameshift variant T/- del 1.4E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs1554875155
rs1554875155 		0.882 0.400 10 49470346 frameshift variant T/- delins
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1198241866
rs1198241866 		0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2002 2010
dbSNP: rs373227647
rs373227647 		0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2010 2013
dbSNP: rs754978734
rs754978734 		0.882 0.400 10 49476312 splice acceptor variant T/C snv 1.2E-05 2.1E-05
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs1317145066
rs1317145066 		0.882 0.400 10 49506014 splice acceptor variant T/C snv 4.0E-06 7.0E-06
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554794073
rs1554794073 		0.882 0.400 10 49528527 splice acceptor variant T/C snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554873973
rs1554873973 		0.882 0.400 10 49460453 splice acceptor variant T/C snv
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0