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: rs1379672870
rs1379672870 		1.000 1 45511416 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		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: rs1553162317
rs1553162317 		1.000 1 45500413 splice region variant G/A snv
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		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: 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: 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: 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: 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: rs751828470
rs751828470 		1.000 1 45511415 splice acceptor variant C/A snv 4.0E-05
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		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: rs756980496
rs756980496 		1.000 1 45507432 missense variant T/C snv 4.0E-06
CUI: C4693974
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 		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