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: 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: 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: 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: 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: rs12713956
rs12713956 		2 21018633 intron variant A/G snv 0.14
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2013
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
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: rs2678379
rs2678379 		1.000 0.080 2 21003688 intron variant A/G snv 0.76
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs2678379
rs2678379 		1.000 0.080 2 21003688 intron variant A/G snv 0.76
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs512535
rs512535 		0.925 0.080 2 21044910 upstream gene variant T/C snv 0.45
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs673548
rs673548 		0.925 0.120 2 21014672 intron variant G/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs673548
rs673548 		0.925 0.120 2 21014672 intron variant G/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs673548
rs673548 		0.925 0.120 2 21014672 intron variant G/A;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs934197
rs934197 		2 21044589 upstream gene variant G/A snv 0.25
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs934197
rs934197 		2 21044589 upstream gene variant G/A snv 0.25
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs10199768
rs10199768 		2 21021128 intron variant G/T snv 0.35
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10199768
rs10199768 		2 21021128 intron variant G/T snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10199768
rs10199768 		2 21021128 intron variant G/T snv 0.35
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10199768
rs10199768 		2 21021128 intron variant G/T snv 0.35
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11126598
rs11126598 		2 21017492 intron variant A/G snv 0.73
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1135402763
rs1135402763 		1.000 0.080 2 21032540 missense variant T/C;G snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1997 1997
dbSNP: rs11680233
rs11680233 		2 21017159 intron variant A/C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11901649
rs11901649 		0.882 0.080 2 21027351 intron variant G/A;C;T snv
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019