Disease: Maple syrup urine disease, type 1A ×
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: rs794727847
rs794727847 		0.925 0.120 19 41422634 frameshift variant AGGCCCCG/- delins
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 1994 2016
dbSNP: rs137852870
rs137852870 		0.925 0.120 19 41424582 missense variant T/A snv 6.4E-05 1.3E-04
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1989 2004
dbSNP: rs1555767285
rs1555767285 		0.925 0.120 19 41424436 splice acceptor variant A/G snv
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs137852872
rs137852872 		0.925 0.120 19 41424496 missense variant T/G snv
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852873
rs137852873 		1.000 0.120 19 41422310 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852874
rs137852874 		1.000 0.120 19 41422262 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852875
rs137852875 		1.000 0.120 19 41422704 missense variant C/G snv 8.0E-06
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852876
rs137852876 		1.000 0.120 19 41422309 missense variant C/G snv 4.0E-06
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398123490
rs398123490 		0.925 0.120 19 41424504 missense variant G/A snv 1.4E-05
CUI: C2930989
Disease: Maple syrup urine disease, type 1A
Maple syrup urine disease, type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0