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: 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: 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: 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
dbSNP: rs4660306
rs4660306 		1 45513003 3 prime UTR variant T/A;C snv
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 1 2013 2013
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: 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: rs1463495909
rs1463495909 		1.000 0.160 1 45508932 frameshift variant -/T delins 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 1.000 8 2006 2017
dbSNP: rs121918243
rs121918243 		0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2006 2015
dbSNP: rs121918243
rs121918243 		0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 7 2006 2015
dbSNP: rs121918243
rs121918243 		0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 2006 2015
dbSNP: rs398124292
rs398124292 		0.925 0.160 1 45507544 frameshift variant -/A delins 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 1.000 7 2006 2015
dbSNP: rs121918242
rs121918242 		1.000 0.160 1 45508266 stop gained C/T snv 5.2E-05 1.0E-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 1.000 5 2006 2014
dbSNP: rs1305170860
rs1305170860 		1.000 0.160 1 45508910 frameshift variant GT/- delins 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 1.000 5 2006 2015
dbSNP: rs1553162910
rs1553162910 		1.000 0.160 1 45508833 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 1.000 5 2006 2015
dbSNP: rs201266016
rs201266016 		1.000 0.160 1 45509032 stop gained C/A snv 2.8E-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 1.000 5 2006 2016
dbSNP: rs371753672
rs371753672 		1.000 0.160 1 45508983 missense variant G/A;C snv 1.7E-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 1.000 5 2006 2015
dbSNP: rs372670428
rs372670428 		1.000 0.160 1 45508323 missense variant T/C snv 1.6E-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 0.700 1.000 5 2006 2015
dbSNP: rs398124296
rs398124296 		1.000 0.160 1 45509022 inframe deletion AAG/- 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 5 2006 2017
dbSNP: rs757325789
rs757325789 		1.000 0.160 1 45508823 stop gained C/G;T snv 4.0E-06; 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 0.700 1.000 5 2006 2016
dbSNP: rs758477536
rs758477536 		1.000 0.160 1 45500333 start lost A/G;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 1.000 5 2006 2017
dbSNP: rs398124295
rs398124295 		1.000 0.160 1 45508974 stop gained G/A 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 1.000 4 2006 2015