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: rs137852870
rs137852870 		0.925 0.120 19 41424582 missense variant T/A snv 6.4E-05 1.3E-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 0.820 1.000 18 1989 2014
dbSNP: rs398123503
rs398123503 		1.000 0.120 19 41419282 missense variant C/T snv 2.4E-05 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 0.810 1.000 5 2000 2019
dbSNP: rs137852871
rs137852871 		1.000 0.120 19 41422643 missense variant G/A;C snv 1.2E-05; 4.0E-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 0.800 1.000 16 1989 2015
dbSNP: rs199599175
rs199599175 		1.000 0.120 19 41422274 missense variant G/A snv 4.0E-06 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 0.800 1.000 12 1989 2014
dbSNP: rs375785084
rs375785084 		1.000 0.120 19 41422176 missense variant C/T snv 8.0E-06 2.1E-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 0.800 1.000 6 2006 2015
dbSNP: rs182923857
rs182923857 		1.000 0.120 19 41423038 missense variant C/T snv 1.3E-05 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 0.800 1.000 2 2011 2012
dbSNP: rs769688327
rs769688327 		1.000 0.120 19 41414148 missense variant C/T snv 4.0E-06 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 1.000 10 1989 2014
dbSNP: rs137852872
rs137852872 		0.925 0.120 19 41424496 missense variant T/G 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 1.000 9 1989 2011
dbSNP: rs398123489
rs398123489 		1.000 0.120 19 41410639 frameshift variant C/-;CC;CCC 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 5 1998 2015
dbSNP: rs398123490
rs398123490 		0.925 0.120 19 41424504 missense variant G/A snv 1.4E-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 1.000 4 2003 2015
dbSNP: rs398123508
rs398123508 		1.000 0.120 19 41422370 missense variant G/C snv 3.2E-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 1.000 4 1998 2015
dbSNP: rs753216964
rs753216964 		1.000 0.120 19 41422163 splice acceptor variant G/C snv 4.0E-06 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 1.000 4 2006 2015
dbSNP: rs398123496
rs398123496 		1.000 0.120 19 41410817 splice donor variant G/A snv 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 1.000 3 2006 2016
dbSNP: rs398123515
rs398123515 		1.000 0.120 19 41422754 missense variant G/A snv 2.8E-05 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 1.000 3 2002 2015
dbSNP: rs753698250
rs753698250 		1.000 0.120 19 41422715 stop gained C/A;T snv 4.0E-06; 4.0E-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 1.000 2 2006 2015
dbSNP: rs764247545
rs764247545 		1.000 0.120 19 41422634 stop gained C/G;T snv 8.0E-06; 4.0E-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 1.000 2 1998 2003
dbSNP: rs794727847
rs794727847 		0.925 0.120 19 41422634 frameshift variant AGGCCCCG/- 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 2 1994 2016
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
dbSNP: rs1555767285
rs1555767285 		0.925 0.120 19 41424436 splice acceptor variant A/G 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 1.000 1 2009 2009
dbSNP: rs863225262
rs863225262 		1.000 0.120 19 41424468 stop gained A/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 1.000 1 2015 2015
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