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: 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: 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: rs398124292
rs398124292 		0.925 0.160 1 45507544 frameshift variant -/A delins 8.0E-06
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		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: rs1557607997
rs1557607997 		0.925 0.160 1 45508296 frameshift variant -/C delins
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1557607997
rs1557607997 		0.925 0.160 1 45508296 frameshift variant -/C delins
CUI: C0013144
Disease: Drowsiness
Drowsiness 		Mental Disorders 0.700 0
dbSNP: rs1557607997
rs1557607997 		0.925 0.160 1 45508296 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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