Disease: Glycogen Storage Disease Type IIb ×
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: rs397516740
rs397516740 		1.000 0.160 X 120455461 stop gained C/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2006 2008
dbSNP: rs727503120
rs727503120 		0.925 0.160 X 120456650 splice donor variant C/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2011 2017
dbSNP: rs727504742
rs727504742 		1.000 0.160 X 120441729 splice donor variant C/G;T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2008 2008
dbSNP: rs1060502302
rs1060502302 		1.000 0.160 X 120448978 frameshift variant CTC/TA delins
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1060502305
rs1060502305 		1.000 0.160 X 120441810 stop gained G/C snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1271031981
rs1271031981 		1.000 0.160 X 120456696 stop gained C/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1556092459
rs1556092459 		1.000 0.160 X 120441849 frameshift variant -/G delins
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1556101523
rs1556101523 		1.000 0.160 X 120447886 stop gained A/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1569369940
rs1569369940 		1.000 0.160 X 120449056 stop gained -/AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT delins
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1569371591
rs1569371591 		1.000 0.160 X 120456697 stop gained C/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs397516743
rs397516743 		1.000 0.160 X 120456771 splice acceptor variant T/C snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs727504262
rs727504262 		1.000 0.160 X 120441895 splice acceptor variant C/T snv
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2003 2003
dbSNP: rs727504953
rs727504953 		0.925 0.160 X 120455477 missense variant C/G;T snv 5.5E-06; 4.4E-05
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019