APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.900 1.000 26 1989 2018
dbSNP: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 22 1989 2017
dbSNP: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1990 2017
dbSNP: rs1367117
rs1367117 		1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 8 2010 2019
dbSNP: rs693
rs693 		0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2007 2019
dbSNP: rs1042034
rs1042034 		0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 6 2010 2019
dbSNP: rs1367117
rs1367117 		1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 6 2010 2019
dbSNP: rs1042034
rs1042034 		0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2010 2019
dbSNP: rs2678379
rs2678379 		1.000 0.080 2 21003688 intron variant A/G snv 0.76
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2012 2019
dbSNP: rs673548
rs673548 		0.925 0.120 2 21014672 intron variant G/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2009 2019
dbSNP: rs1041968
rs1041968 		2 21009932 synonymous variant G/A snv 0.39 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs673548
rs673548 		0.925 0.120 2 21014672 intron variant G/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs676210
rs676210 		0.925 0.120 2 21008652 missense variant G/A;T snv 0.29
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs676210
rs676210 		0.925 0.120 2 21008652 missense variant G/A;T snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2012 2018
dbSNP: rs1041968
rs1041968 		2 21009932 synonymous variant G/A snv 0.39 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs12713956
rs12713956 		2 21018633 intron variant A/G snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs2678379
rs2678379 		1.000 0.080 2 21003688 intron variant A/G snv 0.76
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2012 2019
dbSNP: rs5742904
rs5742904 		0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2014
dbSNP: rs676210
rs676210 		0.925 0.120 2 21008652 missense variant G/A;T snv 0.29
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2012 2019
dbSNP: rs693
rs693 		0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2007 2019
dbSNP: rs693
rs693 		0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs10199768
rs10199768 		2 21021128 intron variant G/T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2011 2012
dbSNP: rs1042034
rs1042034 		0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs1042034
rs1042034 		0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs12713956
rs12713956 		2 21018633 intron variant A/G snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2019