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: rs200785483
rs200785483
1.000 0.080 1 62597951 stop gained G/A;T snv 1.5E-05
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267606655
rs267606655
1.000 0.080 1 62597616 stop gained CC/GA mnv
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122985
rs398122985
1.000 0.080 1 62604236 splice donor variant G/T snv
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122986
rs398122986
1.000 0.080 1 62597620 frameshift variant A/- delins
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122987
rs398122987
1.000 0.080 1 62597997 frameshift variant AACT/- delins
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122988
rs398122988
1.000 0.080 1 62597922 frameshift variant CTCAA/- delins
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398122989
rs398122989
1.000 0.080 1 62602332 missense variant T/C snv 4.0E-06 7.0E-06
Hypobetalipoproteinemia, Familial, 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0