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: rs137852769
rs137852769
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.890 1.000 17 1994 2017
dbSNP: rs137852769
rs137852769
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.790 1.000 13 1994 2017
dbSNP: rs1167218743
rs1167218743
0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 5 1995 2012
dbSNP: rs137852769
rs137852769
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2002 2017
dbSNP: rs769580842
rs769580842
0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 4 2002 2018
dbSNP: rs769580842
rs769580842
0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 3 2002 2003
dbSNP: rs137852771
rs137852771
0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1996 2016
dbSNP: rs137852771
rs137852771
0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1996 2016
dbSNP: rs779113356
rs779113356
0.925 0.200 2 26192343 frameshift variant A/- delins 4.0E-06
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 1999 2011
dbSNP: rs868816467
rs868816467
1.000 0.200 2 26191313 frameshift variant -/GTTT delins 3.5E-05
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2002 2011
dbSNP: rs1057516217
rs1057516217
1.000 0.200 2 26193774 splice acceptor variant T/C snv 1.4E-05
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4665830
rs4665830
2 26176345 splice region variant G/A snv 0.72 0.75
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs4665830
rs4665830
2 26176345 splice region variant G/A snv 0.72 0.75
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs749848370
rs749848370
1.000 0.200 2 26192311 frameshift variant TAGGAGGCAGCTTCAGACT/- delins 1.2E-05
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs764557236
rs764557236
1.000 0.200 2 26195086 splice donor variant CCTTA/- delins 1.6E-05
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1999 1999
dbSNP: rs779113356
rs779113356
0.925 0.200 2 26192343 frameshift variant A/- delins 4.0E-06
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057516233
rs1057516233
1.000 0.200 2 26201321 splice acceptor variant C/G snv
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516350
rs1057516350
1.000 0.200 2 26191481 splice donor variant A/G snv
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516461
rs1057516461
1.000 0.200 2 26201304 stop gained T/A snv 8.0E-06
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516734
rs1057516734
1.000 0.200 2 26201196 frameshift variant CA/- delins
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516991
rs1057516991
1.000 0.200 2 26195122 frameshift variant G/- del 4.0E-06
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057517132
rs1057517132
1.000 0.200 2 26191558 stop gained C/A snv
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057517397
rs1057517397
1.000 0.200 2 26192392 frameshift variant AGAT/- delins
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1167218743
rs1167218743
0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1290945516
rs1290945516
1.000 0.200 2 26197690 splice donor variant C/A snv 4.0E-06
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0