APOC1, apolipoprotein C1, 341

N. diseases: 95; N. variants: 19
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: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.820 1.000 11 2007 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.820 1.000 4 2009 2016
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 2 2013 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 16 2007 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 8 2009 2018
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 7 2010 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 7 2009 2019
dbSNP: rs12721054
rs12721054 		19 44919330 3 prime UTR variant A/G snv 3.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 6 2012 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2007 2018
dbSNP: rs12721054
rs12721054 		19 44919330 3 prime UTR variant A/G snv 3.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs445925
rs445925 		0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2011 2017
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 2 2011 2014
dbSNP: rs445925
rs445925 		0.882 0.080 19 44912383 non coding transcript exon variant G/A;C snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.720 1.000 3 2009 2015
dbSNP: rs56131196
rs56131196 		0.925 0.160 19 44919589 downstream gene variant G/A snv 0.18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.710 1.000 4 2014 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.710 1.000 2 2012 2019
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.710 1.000 2 2013 2016
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 2 2013 2016
dbSNP: rs4420638
rs4420638 		0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 10 2008 2013
dbSNP: rs12721046
rs12721046 		19 44917997 intron variant G/A snv 0.11
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 2 2012 2012
dbSNP: rs12721046
rs12721046 		19 44917997 intron variant G/A snv 0.11
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs12721046
rs12721046 		19 44917997 intron variant G/A snv 0.11
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs12721046
rs12721046 		19 44917997 intron variant G/A snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs389261
rs389261 		19 44917086 intron variant G/A snv 7.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs389261
rs389261 		19 44917086 intron variant G/A snv 7.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012