APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
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: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2012 2012
dbSNP: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2012 2012
dbSNP: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10750097
rs10750097 		1.000 0.040 11 116793324 upstream gene variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121917821
rs121917821 		0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs121917821
rs121917821 		0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12287066
rs12287066 		11 116791615 synonymous variant G/T snv 7.7E-02 0.10
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2012 2012
dbSNP: rs12287066
rs12287066 		11 116791615 synonymous variant G/T snv 7.7E-02 0.10
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12287066
rs12287066 		11 116791615 synonymous variant G/T snv 7.7E-02 0.10
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12287066
rs12287066 		11 116791615 synonymous variant G/T snv 7.7E-02 0.10
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs143292359
rs143292359 		11 116790285 missense variant G/A snv 5.9E-04 5.0E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs149808404
rs149808404 		11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2019
dbSNP: rs17120035
rs17120035 		1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2072560
rs2072560 		11 116791110 missense variant T/C snv 0.89 0.94
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2072560
rs2072560 		11 116791110 missense variant T/C snv 0.89 0.94
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2072560
rs2072560 		11 116791110 missense variant T/C snv 0.89 0.94
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2072560
rs2072560 		11 116791110 missense variant T/C snv 0.89 0.94
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2072560
rs2072560 		11 116791110 missense variant T/C snv 0.89 0.94
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2075291
rs2075291 		0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.080 1.000 8 2003 2018