Disease: Methylmalonic acidemia with homocystinuria ×
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: rs1233135084
rs1233135084 		1.000 0.160 1 45508944 missense variant T/C snv 4.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1311416761
rs1311416761 		1.000 0.160 1 45508243 frameshift variant GACT/- delins 1.4E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1347498294
rs1347498294 		1.000 0.160 1 45508319 frameshift variant C/- del 7.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1356587420
rs1356587420 		1.000 0.160 1 45508990 frameshift variant TG/- delins 1.4E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1481893137
rs1481893137 		1.000 0.160 1 45508862 frameshift variant -/T delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553162788
rs1553162788 		1.000 0.160 1 45507545 frameshift variant AGAG/- delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553162868
rs1553162868 		1.000 0.160 1 45508362 stop gained C/T snv
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553162931
rs1553162931 		1.000 0.160 1 45508906 frameshift variant GACTGTGT/- delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553162943
rs1553162943 		1.000 0.160 1 45508938 frameshift variant C/- delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557607997
rs1557607997 		0.925 0.160 1 45508296 frameshift variant -/C delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200094982
rs200094982 		1.000 0.160 1 45508324 missense variant A/G snv 1.2E-04 1.4E-04
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs556977618
rs556977618 		1.000 0.160 1 45507550 missense variant G/A;T snv 1.6E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs574983400
rs574983400 		1.000 0.160 1 45500334 start lost T/C;G snv
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs606231425
rs606231425 		1.000 0.160 1 45508830 missense variant G/A snv
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs755881820
rs755881820 		1.000 0.160 1 45500404 stop gained C/A;T snv 8.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796051999
rs796051999 		1.000 0.160 1 45508806 frameshift variant TG/- delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918243
rs121918243 		0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 12 2006 2017
dbSNP: rs140522266
rs140522266 		1.000 0.160 1 45508806 missense variant G/A;C snv 1.6E-05; 3.3E-04
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 11 2001 2016
dbSNP: rs538023671
rs538023671 		1.000 0.160 1 45508982 missense variant C/G;T snv 1.2E-05; 4.0E-06; 4.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 11 2006 2015
dbSNP: rs546099787
rs546099787 		1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 11 2006 2017
dbSNP: rs1553162786
rs1553162786 		1.000 0.160 1 45507542 frameshift variant -/T delins
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 1.000 10 2006 2015
dbSNP: rs200895671
rs200895671 		1.000 0.160 1 45508931 missense variant C/A;T snv 8.0E-06; 1.2E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 10 2006 2018
dbSNP: rs370596113
rs370596113 		1.000 0.160 1 45508847 stop gained C/A;G;T snv 6.4E-05; 2.0E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 9 2006 2015
dbSNP: rs587776889
rs587776889 		1.000 0.160 1 45508975 stop gained G/A snv 4.4E-05 2.1E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.710 1.000 9 2006 2017
dbSNP: rs121918240
rs121918240 		1.000 0.160 1 45508282 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.800 1.000 8 2006 2015