APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Hypercholesterolemia, Familial ×
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: rs759845943
rs759845943 		1.000 0.080 2 21015387 missense variant C/G;T snv 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs762028704
rs762028704 		1.000 0.080 2 21006129 missense variant T/C snv 1.6E-05 3.5E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs771015234
rs771015234 		1.000 0.080 2 21002254 missense variant C/A;G snv 8.0E-06; 8.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886039829
rs886039829 		1.000 0.080 2 21002264 frameshift variant T/- delins
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs12713559
rs12713559 		0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 1997 2006
dbSNP: rs1226992086
rs1226992086 		0.925 0.080 2 21041055 missense variant C/G;T snv 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs12720762
rs12720762 		0.925 0.080 2 21043787 intron variant C/G snv 4.8E-03
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs151009667
rs151009667 		0.925 0.080 2 21011802 missense variant C/T snv 1.3E-03 1.4E-03
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs200353509
rs200353509 		0.882 0.120 2 21035701 missense variant G/A;C;T snv 4.0E-06; 6.0E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs693
rs693 		0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs750158340
rs750158340 		1.000 0.080 2 21028340 synonymous variant A/G snv 4.0E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015