APOC4, apolipoprotein C4, 346

N. diseases: 25; N. variants: 6
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: rs12721109
rs12721109 		1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs12721109
rs12721109 		1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs12721109
rs12721109 		1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs12721109
rs12721109 		1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12721109
rs12721109 		1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2288912
rs2288912 		19 44945942 3 prime UTR variant C/A;G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2288912
rs2288912 		19 44945942 3 prime UTR variant C/A;G;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5157
rs5157 		19 44943904 intron variant T/C snv 0.60
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5157
rs5157 		19 44943904 intron variant T/C snv 0.60
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C2825895
Disease: Granulocyte Colony Stimulating Factor Measurement
Granulocyte Colony Stimulating Factor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs79429216
rs79429216 		19 44942260 5 prime UTR variant G/A snv 1.2E-02 9.3E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1132899
rs1132899 		1.000 0.040 19 44944779 missense variant T/C snv 0.59 0.59
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5167
rs5167 		1.000 0.040 19 44945208 missense variant T/A;G snv 3.6E-05; 0.39
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015