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: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2012 2019
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: 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: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2018
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: 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: rs34003087
rs34003087 		11 116792880 upstream gene variant C/T snv 4.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34003087
rs34003087 		11 116792880 upstream gene variant C/T snv 4.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34003087
rs34003087 		11 116792880 upstream gene variant C/T snv 4.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs619054
rs619054 		11 116790097 3 prime UTR variant G/A snv 0.19 0.19
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7103224
rs7103224 		11 116793250 upstream gene variant G/A snv 5.8E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7103224
rs7103224 		11 116793250 upstream gene variant G/A snv 5.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9804646
rs9804646 		11 116794363 upstream gene variant C/T snv 0.17
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
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