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: rs118204044
rs118204044
0.925 0.080 2 149570089 missense variant A/G snv 2.4E-05
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2015
dbSNP: rs118204045
rs118204045
0.925 0.080 2 149575775 missense variant G/T snv 1.2E-05
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2015
dbSNP: rs118204046
rs118204046
0.925 0.080 2 149570119 missense variant T/C snv 7.2E-05 3.5E-05
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2015
dbSNP: rs864309740
rs864309740
1.000 0.080 2 149582147 frameshift variant -/C delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs864309741
rs864309741
1.000 0.080 2 149579574 frameshift variant -/C delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs118204044
rs118204044
0.925 0.080 2 149570089 missense variant A/G snv 2.4E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204045
rs118204045
0.925 0.080 2 149575775 missense variant G/T snv 1.2E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204046
rs118204046
0.925 0.080 2 149570119 missense variant T/C snv 7.2E-05 3.5E-05
Homocystinuria, CblD Type, Variant 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204047
rs118204047
0.925 0.080 2 149579643 stop gained G/A;C snv 4.0E-06
Methylmalonic Aciduria, CblD Type, Variant 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204047
rs118204047
0.925 0.080 2 149579643 stop gained G/A;C snv 4.0E-06
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204048
rs118204048
1.000 0.080 2 149570117 stop gained G/A snv 4.0E-06
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553454436
rs1553454436
1.000 0.080 2 149582256 frameshift variant CT/- delins
CUI: C0042963
Disease: Vomiting
Vomiting
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553454436
rs1553454436
1.000 0.080 2 149582256 frameshift variant CT/- delins
CUI: C0018926
Disease: Hematemesis
Hematemesis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1553454436
rs1553454436
1.000 0.080 2 149582256 frameshift variant CT/- delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509361
rs397509361
0.925 0.080 2 149582217 frameshift variant TAAAGAGC/- delins
Methylmalonic Aciduria, CblD Type, Variant 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509361
rs397509361
0.925 0.080 2 149582217 frameshift variant TAAAGAGC/- delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509362
rs397509362
0.925 0.080 2 149579478 inframe insertion -/TGATAAAGGTTCTGCTAG delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509362
rs397509362
0.925 0.080 2 149579478 inframe insertion -/TGATAAAGGTTCTGCTAG delins
Methylmalonic Aciduria, CblD Type, Variant 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509363
rs397509363
1.000 0.080 2 149576495 stop gained -/T delins 2.1E-05
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397509364
rs397509364
1.000 0.080 2 149571079 splice donor variant CACT/- delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs864309742
rs864309742
1.000 0.080 2 149582220 frameshift variant -/TA delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs864309743
rs864309743
1.000 0.080 2 149576459 frameshift variant -/G delins
Methylmalonic Aciduria and Homocystinuria, CblD Type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0