APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hypobetalipoproteinemias ×
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: rs143301836
rs143301836 		1.000 0.080 2 21037162 stop gained G/A;T snv
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2014 2015
dbSNP: rs1057518647
rs1057518647 		0.925 0.080 2 21019728 frameshift variant CCCGGTC/- delins
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553382678
rs1553382678 		1.000 0.080 2 21004651 frameshift variant CT/- delins
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs756209187
rs756209187 		1.000 0.080 2 21006630 frameshift variant G/- del 4.0E-06 2.8E-05
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797045253
rs797045253 		1.000 0.080 2 21002397 frameshift variant G/- delins
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs771541567
rs771541567 		0.851 0.120 2 21029900 missense variant G/A;T snv 8.0E-06; 2.0E-05
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009