EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
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: rs121918280
rs121918280 		0.925 0.160 11 44114237 missense variant G/A snv 1.4E-05
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.800 1.000 10 1997 2009
dbSNP: rs764379119
rs764379119 		1.000 0.160 11 44114226 missense variant G/A;C snv 1.2E-05
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 9 1997 2009
dbSNP: rs771803942
rs771803942 		1.000 0.160 11 44109262 missense variant C/T snv 7.2E-05 1.4E-05
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 9 1997 2009
dbSNP: rs121918279
rs121918279 		0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 1996 2014
dbSNP: rs886039358
rs886039358 		1.000 0.160 11 44109201 stop gained C/T snv 7.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 5 2000 2016
dbSNP: rs1369420640
rs1369420640 		1.000 0.160 11 44126956 splice donor variant G/A;T snv 4.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 4 2001 2018
dbSNP: rs1565196489
rs1565196489 		1.000 0.160 11 44108071 frameshift variant CT/- delins
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2009 2016
dbSNP: rs754533434
rs754533434 		1.000 0.160 11 44107779 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 1998 2015
dbSNP: rs886041199
rs886041199 		1.000 0.160 11 44124950 frameshift variant -/GC delins
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 3 2000 2010
dbSNP: rs1450980907
rs1450980907 		1.000 0.160 11 44126950 stop gained G/A;T snv 4.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2009 2013
dbSNP: rs763718818
rs763718818 		1.000 0.160 11 44124982 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2005 2017
dbSNP: rs864309638
rs864309638 		1.000 0.160 11 44124787 splice acceptor variant A/C snv
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 2 2009 2009
dbSNP: rs140075817
rs140075817 		1.000 11 44107972 missense variant T/G snv 3.5E-04 3.1E-04
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs1555006433
rs1555006433 		1.000 0.160 11 44130097 stop gained C/T snv
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1565196333
rs1565196333 		1.000 0.160 11 44107950 frameshift variant C/- del
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1565205890
rs1565205890 		1.000 0.160 11 44130140 splice donor variant T/A snv
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 1.000 1 2009 2009
dbSNP: rs376292686
rs376292686 		1.000 11 44107995 missense variant C/T snv 4.8E-05 9.1E-05
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs121918279
rs121918279 		0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121918279
rs121918279 		0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 0
dbSNP: rs121918279
rs121918279 		0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918279
rs121918279 		0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121918280
rs121918280 		0.925 0.160 11 44114237 missense variant G/A snv 1.4E-05
CUI: C4225248
Disease: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 0
dbSNP: rs121918281
rs121918281 		1.000 0.160 11 44114224 stop gained C/G snv
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555002457
rs1555002457 		1.000 0.160 11 44107951 frameshift variant G/- delins
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555002460
rs1555002460 		1.000 0.160 11 44107956 frameshift variant -/A delins
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0