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: rs1002571805
rs1002571805 		1.000 0.160 1 45508837 stop gained G/A;C 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 3 2009 2016
dbSNP: rs1255179780
rs1255179780 		1.000 0.160 1 45507355 splice acceptor variant G/A 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 1.000 3 2006 2014
dbSNP: rs796051995
rs796051995 		1.000 0.160 1 45507491 stop gained C/T snv 4.0E-06 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 1.000 3 2006 2016
dbSNP: rs796051996
rs796051996 		1.000 0.160 1 45508355 stop gained G/A snv 4.0E-06 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 3 2006 2015
dbSNP: rs796052000
rs796052000 		1.000 0.160 1 45508261 frameshift variant AACC/- delins 3.5E-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 3 2006 2013
dbSNP: rs121918241
rs121918241 		0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-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 2 2006 2009
dbSNP: rs1257204721
rs1257204721 		1.000 0.160 1 45508930 frameshift variant C/- 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 1.000 2 2006 2009
dbSNP: rs1553162918
rs1553162918 		1.000 0.160 1 45508865 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 1.000 2 2006 2015
dbSNP: rs1553162923
rs1553162923 		1.000 0.160 1 45508870 frameshift variant AGAGGTGCCAGAT/- 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 2 2009 2010
dbSNP: rs746135357
rs746135357 		1.000 0.160 1 45508333 frameshift variant AA/- del 2.0E-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 2 2006 2010
dbSNP: rs779893448
rs779893448 		1.000 0.160 1 45500335 start lost G/A snv 8.0E-06 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 2 2006 2008
dbSNP: rs796051998
rs796051998 		1.000 0.160 1 45508317 inframe deletion TAC/- 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 2 2006 2014
dbSNP: rs12042903
rs12042903 		1 45500626 intron variant A/G snv 0.23
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1553162821
rs1553162821 		1.000 0.160 1 45508219 frameshift variant -/A 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 1 2009 2009
dbSNP: rs1553162857
rs1553162857 		1.000 0.160 1 45508326 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 1.000 1 2006 2006
dbSNP: rs201183360
rs201183360 		1.000 0.160 1 45509054 stop gained C/T snv 6.8E-05 6.3E-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 1 2012 2012
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: rs528744719
rs528744719 		1.000 0.160 1 45508250 stop gained C/G;T snv 9.6E-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 1 2010 2010
dbSNP: rs546099787
rs546099787 		1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs749264632
rs749264632 		1.000 0.160 1 45508285 frameshift variant C/- 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 1 2006 2006
dbSNP: rs765913293
rs765913293 		1.000 0.160 1 45508982 frameshift variant -/G 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 1.000 1 2016 2016
dbSNP: rs771673343
rs771673343 		1.000 0.160 1 45507364 stop gained G/A 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 1.000 1 2009 2009
dbSNP: rs777251123
rs777251123 		1.000 0.160 1 45500415 splice donor variant T/G 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 1.000 1 2009 2009
dbSNP: rs121918241
rs121918241 		0.925 0.160 1 45508329 stop gained C/A;T snv 4.0E-06; 9.6E-05
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0