Disease: Maple Syrup Urine Disease ×
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: rs1057519059
rs1057519059 		1.000 0.120 19 41414072 frameshift variant C/AA delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1330793674
rs1330793674 		1.000 0.120 19 41423004 frameshift variant CAGCACCA/- delins 4.2E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555764014
rs1555764014 		1.000 0.120 19 41397830 start lost G/A snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555765593
rs1555765593 		1.000 0.120 19 41410671 frameshift variant T/- del
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555767028
rs1555767028 		1.000 0.120 19 41422371 splice donor variant G/T snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555767090
rs1555767090 		1.000 0.120 19 41422766 stop gained -/A delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555767169
rs1555767169 		1.000 0.120 19 41423169 splice donor variant G/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568499702
rs1568499702 		1.000 0.120 19 41397940 splice region variant G/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568503938
rs1568503938 		1.000 0.120 19 41410966 missense variant T/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568506608
rs1568506608 		1.000 0.120 19 41419203 frameshift variant T/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201168715
rs201168715 		1.000 0.120 19 41424462 stop gained G/A;T snv 1.1E-04
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs373336888
rs373336888 		1.000 0.120 19 41422718 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs373713279
rs373713279 		1.000 0.120 19 41422278 missense variant C/A snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs374625613
rs374625613 		1.000 0.120 19 41410655 stop gained C/T snv 7.0E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs376456598
rs376456598 		1.000 0.120 19 41410665 stop gained C/A snv 8.0E-06 2.8E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123497
rs398123497 		1.000 0.120 19 41410825 non coding transcript exon variant C/T snv 5.2E-05 2.8E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123505
rs398123505 		1.000 0.120 19 41422299 inframe deletion TCT/- delins 2.8E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs762084007
rs762084007 		1.000 0.120 19 41419157 frameshift variant C/- delins 1.6E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs762199542
rs762199542 		1.000 0.120 19 41423071 stop gained C/T snv 9.6E-06
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs765543886
rs765543886 		1.000 0.120 19 41423121 stop gained G/A snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs773048903
rs773048903 		1.000 0.120 19 41414149 missense variant G/A snv 1.2E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796051938
rs796051938 		1.000 0.120 19 41422176 frameshift variant TACG/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312124
rs869312124 		1.000 0.120 19 41422361 missense variant G/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312125
rs869312125 		1.000 0.120 19 41414143 missense variant A/C snv
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555766993
rs1555766993 		1.000 0.120 19 41422231 frameshift variant G/- delins
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009