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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs662799

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr11:116792991 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.10407 (13068/125568, TOPMED)
G=0.1589 (12504/78678, PAGE_STUDY)
G=0.0995 (3122/31390, GnomAD) (+ 6 more)
G=0.163 (816/5008, 1000G)
G=0.072 (323/4480, Estonian)
G=0.062 (239/3854, ALSPAC)
G=0.058 (216/3708, TWINSUK)
G=0.06 (34/600, NorthernSweden)
G=0.31 (65/212, Vietnamese)
Clinical Significance
Reported in ClinVar
Gene : Consequence
APOA5 : 2KB Upstream Variant
Publications
142 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 11 NC_000011.10:g.116792991G>A
GRCh37.p13 chr 11 NC_000011.9:g.116663707G>A
APOA5 RefSeqGene NG_015894.1:g.4430C>T
Gene: APOA5, apolipoprotein A5 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
APOA5 transcript variant 2 NM_001166598.2:c. N/A Upstream Transcript Variant
APOA5 transcript variant 1 NM_052968.4:c. N/A Upstream Transcript Variant
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Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 538603 )
ClinVar Accession Disease Names Clinical Significance
RCV000660843.1 atorvastatin response - Efficacy Drug-Response
RCV000660844.1 lovastatin response - Efficacy Drug-Response
RCV000660845.1 simvastatin response - Efficacy Drug-Response
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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.10407 A=0.89593
The PAGE Study Global Study-wide 78678 G=0.1589 A=0.8411
The PAGE Study AfricanAmerican Sub 32508 G=0.1232 A=0.8768
The PAGE Study Mexican Sub 10806 G=0.1540 A=0.8460
The PAGE Study Asian Sub 8314 G=0.342 A=0.658
The PAGE Study PuertoRican Sub 7918 G=0.124 A=0.876
The PAGE Study NativeHawaiian Sub 4530 G=0.246 A=0.754
The PAGE Study Cuban Sub 4228 G=0.095 A=0.905
The PAGE Study Dominican Sub 3826 G=0.115 A=0.885
The PAGE Study CentralAmerican Sub 2450 G=0.165 A=0.835
The PAGE Study SouthAmerican Sub 1982 G=0.176 A=0.824
The PAGE Study NativeAmerican Sub 1260 G=0.097 A=0.903
The PAGE Study SouthAsian Sub 856 G=0.21 A=0.79
gnomAD - Genomes Global Study-wide 31390 G=0.0995 A=0.9005
gnomAD - Genomes European Sub 18898 G=0.0709 A=0.9291
gnomAD - Genomes African Sub 8708 G=0.121 A=0.879
gnomAD - Genomes East Asian Sub 1560 G=0.290 A=0.710
gnomAD - Genomes Other Sub 1086 G=0.109 A=0.891
gnomAD - Genomes American Sub 848 G=0.15 A=0.85
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.10 A=0.90
1000Genomes Global Study-wide 5008 G=0.163 A=0.837
1000Genomes African Sub 1322 G=0.116 A=0.884
1000Genomes East Asian Sub 1008 G=0.288 A=0.712
1000Genomes Europe Sub 1006 G=0.083 A=0.917
1000Genomes South Asian Sub 978 G=0.19 A=0.81
1000Genomes American Sub 694 G=0.15 A=0.85
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.072 A=0.928
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.062 A=0.938
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.058 A=0.942
Northern Sweden ACPOP Study-wide 600 G=0.06 A=0.94
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.31 A=0.69
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A Note
GRCh38.p12 chr 11 NC_000011.10:g.116792991= NC_000011.10:g.11679299...

NC_000011.10:g.116792991G>A

GRCh37.p13 chr 11 NC_000011.9:g.116663707= NC_000011.9:g.116663707G>A
APOA5 RefSeqGene NG_015894.1:g.4430= NG_015894.1:g.4430C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

85 SubSNP, 9 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss836014 Aug 11, 2000 (83)
2 KWOK ss1943495 Oct 18, 2000 (87)
3 KWOK ss1944009 Oct 18, 2000 (87)
4 BERKELEYPGA ss3199915 Sep 28, 2001 (100)
5 YUSUKE ss4995440 Aug 28, 2002 (108)
6 SC_SNP ss15908727 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss17438359 Feb 27, 2004 (120)
8 SSAHASNP ss20856104 Apr 05, 2004 (121)
9 SHGC ss66536772 Dec 01, 2006 (127)
10 PERLEGEN ss69330212 May 17, 2007 (127)
11 RSG_JCVI ss69359429 May 17, 2007 (127)
12 SI_EXO ss71647600 May 17, 2007 (127)
13 HGSV ss77353815 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss80755422 Dec 15, 2007 (130)
15 HGSV ss84990554 Dec 15, 2007 (130)
16 HGSV ss85151793 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss88817267 Mar 24, 2008 (129)
18 SHGC ss95216916 Feb 06, 2009 (130)
19 HUMANGENOME_JCVI ss97420660 Feb 06, 2009 (130)
20 BGI ss106773133 Feb 06, 2009 (130)
21 1000GENOMES ss111136821 Jan 25, 2009 (130)
22 1000GENOMES ss115232515 Jan 25, 2009 (130)
23 ILLUMINA-UK ss119965528 Dec 01, 2009 (131)
24 ENSEMBL ss137843956 Dec 01, 2009 (131)
25 GMI ss156838163 Dec 01, 2009 (131)
26 ILLUMINA ss160793011 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss168765752 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss170961918 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss175289989 Jul 04, 2010 (132)
30 BUSHMAN ss203259720 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss207568658 Jul 04, 2010 (132)
32 1000GENOMES ss225483268 Jul 14, 2010 (132)
33 1000GENOMES ss235734790 Jul 15, 2010 (132)
34 1000GENOMES ss242329691 Jul 15, 2010 (132)
35 ILLUMINA ss244305706 Jul 04, 2010 (132)
36 BL ss255392775 May 09, 2011 (134)
37 GMI ss281185480 May 04, 2012 (137)
38 GMI ss286464869 Apr 25, 2013 (138)
39 PJP ss291147856 May 09, 2011 (134)
40 ILLUMINA ss410785875 Sep 17, 2011 (135)
41 ILLUMINA ss482309364 Sep 08, 2015 (146)
42 TISHKOFF ss562850009 Apr 25, 2013 (138)
43 SSMP ss658374063 Apr 25, 2013 (138)
44 EVA-GONL ss989003460 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1078075931 Aug 21, 2014 (142)
46 1000GENOMES ss1343123096 Aug 21, 2014 (142)
47 DDI ss1426773670 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1575976377 Apr 01, 2015 (144)
49 EVA_DECODE ss1598670286 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1627548733 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1670542766 Apr 01, 2015 (144)
52 HAMMER_LAB ss1807013972 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1932365537 Feb 12, 2016 (147)
54 ILLUMINA ss1959389243 Feb 12, 2016 (147)
55 GENOMED ss1967468708 Jul 19, 2016 (147)
56 JJLAB ss2026926562 Sep 14, 2016 (149)
57 ILLUMINA ss2094792056 Dec 20, 2016 (150)
58 ILLUMINA ss2095027117 Dec 20, 2016 (150)
59 USC_VALOUEV ss2155240043 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2186032750 Dec 20, 2016 (150)
61 TOPMED ss2349625086 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2627937972 Nov 08, 2017 (151)
63 GRF ss2699550824 Nov 08, 2017 (151)
64 GNOMAD ss2904898387 Nov 08, 2017 (151)
65 AFFY ss2984958382 Nov 08, 2017 (151)
66 AFFY ss2985600248 Nov 08, 2017 (151)
67 SWEGEN ss3008842933 Nov 08, 2017 (151)
68 ILLUMINA ss3021380076 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3027264439 Nov 08, 2017 (151)
70 TOPMED ss3157407339 Nov 08, 2017 (151)
71 CSHL ss3349813327 Nov 08, 2017 (151)
72 ILLUMINA ss3636161710 Oct 12, 2018 (152)
73 URBANLAB ss3649713577 Oct 12, 2018 (152)
74 ILLUMINA ss3651748407 Oct 12, 2018 (152)
75 ILLUMINA ss3653730561 Oct 12, 2018 (152)
76 EGCUT_WGS ss3676171072 Jul 13, 2019 (153)
77 EVA_DECODE ss3692675091 Jul 13, 2019 (153)
78 ILLUMINA ss3725279930 Jul 13, 2019 (153)
79 ACPOP ss3738573707 Jul 13, 2019 (153)
80 EVA ss3749860726 Jul 13, 2019 (153)
81 PAGE_CC ss3771655418 Jul 13, 2019 (153)
82 PACBIO ss3787077689 Jul 13, 2019 (153)
83 PACBIO ss3792200344 Jul 13, 2019 (153)
84 PACBIO ss3797082878 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3815189449 Jul 13, 2019 (153)
86 1000Genomes NC_000011.9 - 116663707 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 116663707 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000011.9 - 116663707 Oct 12, 2018 (152)
89 gnomAD - Genomes NC_000011.9 - 116663707 Jul 13, 2019 (153)
90 Northern Sweden NC_000011.9 - 116663707 Jul 13, 2019 (153)
91 The PAGE Study NC_000011.10 - 116792991 Jul 13, 2019 (153)
92 TopMed NC_000011.10 - 116792991 Oct 12, 2018 (152)
93 UK 10K study - Twins NC_000011.9 - 116663707 Oct 12, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000011.9 - 116663707 Jul 13, 2019 (153)
95 ClinVar RCV000660843.1 Oct 12, 2018 (152)
96 ClinVar RCV000660844.1 Oct 12, 2018 (152)
97 ClinVar RCV000660845.1 Oct 12, 2018 (152)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3809039 Oct 08, 2002 (108)
rs60708336 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77353815, ss84990554, ss85151793, ss88817267, ss111136821, ss115232515, ss119965528, ss168765752, ss170961918, ss175289989, ss203259720, ss207568658, ss255392775, ss281185480, ss286464869, ss291147856, ss1598670286 NC_000011.8:116168916:G:A NC_000011.10:116792990:G:A (self)
55710800, 30926333, 21909320, 152117410, 11858572, 30926333, 6862799, ss225483268, ss235734790, ss242329691, ss482309364, ss562850009, ss658374063, ss989003460, ss1078075931, ss1343123096, ss1426773670, ss1575976377, ss1627548733, ss1670542766, ss1807013972, ss1932365537, ss1959389243, ss1967468708, ss2026926562, ss2094792056, ss2095027117, ss2155240043, ss2349625086, ss2627937972, ss2699550824, ss2904898387, ss2984958382, ss2985600248, ss3008842933, ss3021380076, ss3349813327, ss3636161710, ss3651748407, ss3653730561, ss3676171072, ss3738573707, ss3749860726, ss3787077689, ss3792200344, ss3797082878 NC_000011.9:116663706:G:A NC_000011.10:116792990:G:A (self)
RCV000660843.1, RCV000660844.1, RCV000660845.1, 876887, 73274140, ss2186032750, ss3027264439, ss3157407339, ss3649713577, ss3692675091, ss3725279930, ss3771655418, ss3815189449 NC_000011.10:116792990:G:A NC_000011.10:116792990:G:A (self)
ss15908727, ss17438359, ss20856104 NT_033899.6:20207493:G:A NC_000011.10:116792990:G:A (self)
ss836014, ss1943495, ss1944009, ss3199915, ss4995440, ss66536772, ss69330212, ss69359429, ss71647600, ss80755422, ss95216916, ss97420660, ss106773133, ss137843956, ss156838163, ss160793011, ss244305706, ss410785875 NT_033899.8:20226122:G:A NC_000011.10:116792990:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

142 citations for rs662799
PMID Title Author Year Journal
16670016 Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Ward KJ et al. 2006 Lipids in health and disease
17357073 Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Pare G et al. 2007 American journal of human genetics
17903299 A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. Kathiresan S et al. 2007 BMC medical genetics
18078817 Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics. Liao YC et al. 2008 Clinical biochemistry
18196181 Correction of population stratification in large multi-ethnic association studies. Serre D et al. 2008 PloS one
18441017 An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients. Pullinger CR et al. 2008 Journal of lipid research
18596051 Polygenic determinants of severe hypertriglyceridemia. Wang J et al. 2008 Human molecular genetics
18789138 The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides. Dallongeville J et al. 2008 BMC medical genetics
19018513 The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Webster RJ et al. 2009 Diabetologia
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19056598 Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states. Perez-Martinez P et al. 2009 The American journal of clinical nutrition
19057464 Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study. Liu Y et al. 2009 Pharmacogenetics and genomics
19148283 Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study. Deo RC et al. 2009 PLoS genetics
19185284 Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Ferrucci L et al. 2009 American journal of human genetics
19299407 Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Lanktree MB et al. 2009 Journal of lipid research
19435741 Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Murray A et al. 2009 European heart journal
19656773 A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hegele RA et al. 2009 Human molecular genetics
19732897 Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese. Liu ZK et al. 2010 Atherosclerosis
19787382 Introduction to the DISRUPT postprandial database: subjects, studies and methodologies. Jackson KG et al. 2010 Genes & nutrition
19802338 Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Chasman DI et al. 2008 Circulation. Cardiovascular genetics
19910639 Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis. Laurila PP et al. 2010 Arteriosclerosis, thrombosis, and vascular biology
20031591 Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III. Keebler ME et al. 2009 Circulation. Cardiovascular genetics
20054229 Gene-gene interaction between APOA5 and USF1: two candidate genes for the metabolic syndrome. Singmann P et al. 2009 Obesity facts
20154611 Adaptive genetic variation and heart disease risk. Parnell LD et al. 2010 Current opinion in lipidology
20395964 Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins. Ken-Dror G et al. 2010 Journal of human genetics
20406163 Fenofibrate and metabolic syndrome. Kraja AT et al. 2010 Endocrine, metabolic & immune disorders drug targets
20429872 Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. Ariza MJ et al. 2010 BMC medical genetics
20452521 Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. Triglyceride Coronary Disease Genetics Consortium and Emerging Risk Factors Collaboration. et al. 2010 Lancet (London, England)
20570915 Genetic determinants of major blood lipids in Pakistanis compared with Europeans. Saleheen D et al. 2010 Circulation. Cardiovascular genetics
20571505 A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese. Jiang CQ et al. 2010 European journal of human genetics
20674306 The APOA1/C3/A4/A5 cluster and markers of allostatic load in the Boston Puerto Rican Health Study. Mattei J et al. 2011 Nutrition, metabolism, and cardiovascular diseases
20831840 Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned. Maasz A et al. 2010 Genome medicine
20832063 Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study. Lu Y et al. 2010 Atherosclerosis
20876667 Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review. Panagiotou OA et al. 2010 American journal of epidemiology
21054477 Association of a genetic variant in the apolipoprotein A5 gene with the metabolic syndrome in Chinese. Ong KL et al. 2011 Clinical endocrinology
21130994 Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. De Caterina R et al. 2011 Atherosclerosis
21282362 Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. De Silva NM et al. 2011 Diabetes
21288825 Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. Lubomirov R et al. 2011 The Journal of infectious diseases
21324458 Association of gene variants with lipid levels in response to fenofibrate is influenced by metabolic syndrome status. Feitosa MF et al. 2011 Atherosclerosis
21375366 Impact of apolipoprotein A5 (APOA5) polymorphisms on serum triglyceride levels in schizophrenic patients under long-term atypical antipsychotic treatment. Hong CJ et al. 2012 The world journal of biological psychiatry
21423763 Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels. Yin RX et al. 2011 PloS one
21438666 Association of PON1 and APOA5 gene polymorphisms in a cohort of Indian patients having coronary artery disease with and without type 2 diabetes. Bhaskar S et al. 2011 Genetic testing and molecular biomarkers
21463987 Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the apolipoprotein A5 gene. Evans D et al. 2011 European journal of medical research
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21527746 Triglycerides and heart disease: still a hypothesis? Goldberg IJ et al. 2011 Arteriosclerosis, thrombosis, and vascular biology
21548985 Relationship of APOA5, PPARγ and HL gene variants with serial changes in childhood body mass index and coronary artery disease risk factors in young adulthood. Ramakrishnan L et al. 2011 Lipids in health and disease
21773006 Studies of gene variants related to inflammation, oxidative stress, dyslipidemia, and obesity: implications for a nutrigenetic approach. Curti ML et al. 2011 Journal of obesity
21854571 Apolipoprotein A1/C3/A5 haplotypes and serum lipid levels. Yin RX et al. 2011 Lipids in health and disease
21860654 Association of the Apolipoprotein A5 Gene -1131T>C Polymorphism with Serum Lipids in Korean Subjects: Impact of Sasang Constitution. Song KH et al. 2012 Evidence-based complementary and alternative medicine
21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice. Jeemon P et al. 2011 World journal of cardiology
22328972 A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes. Lee YC et al. 2011 Journal of data mining in genomics & proteomics
22387725 Rapid genotyping of APOA5 -1131T>C polymorphism using high resolution melting analysis with unlabeled probes. Liu SM et al. 2012 Gene
22425169 Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. Shirts BH et al. 2012 Atherosclerosis
22517333 Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study. Hishida A et al. 2012 Endocrine journal
22553514 Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma. Zhou G et al. 2010 International journal of ophthalmology
22576629 Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome. Hiramatsu M et al. 2012 International journal of molecular medicine
22833659 Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. Clifford AJ et al. 2012 The Journal of nutrition
22924697 Interactions between the apolipoprotein a1/c3/a5 haplotypes and alcohol consumption on serum lipid levels. Yin RX et al. 2013 Alcoholism, clinical and experimental research
23050023 Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals. Takeuchi F et al. 2012 PloS one
23065249 Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke. Can Demirdöğen B et al. 2012 Molecular biology reports
23150898 Evaluation of seven common lipid associated loci in a large Indian sib pair study. Rafiq S et al. 2012 Lipids in health and disease
23151256 APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family. Dussaillant C et al. 2012 BMC medical genetics
23236364 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. Elbers CC et al. 2012 PloS one
23459084 Central obesity in males affected by a dyslipidemia-associated genetic polymorphism on APOA1/C3/A4/A5 gene cluster. Hsu MC et al. 2013 Nutrition & diabetes
23497168 Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. Rudkowska I et al. 2013 Nutrition & metabolism
23656756 Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. Clifford AJ et al. 2013 Lipids in health and disease
24178511 Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip. Gaunt TR et al. 2013 Thrombosis and haemostasis
24402875 Genetic association of lipid metabolism related SNPs with myocardial infarction in the Pakistani population. Iqbal R et al. 2014 Molecular biology reports
24684850 Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan patients. Ouatou S et al. 2014 Lipids in health and disease
24709297 Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymorphisms and their relationship to features of metabolic syndrome in adult dyslipidemic patients. Novotny D et al. 2014 Clinical biochemistry
24815086 The influence of apolipoprotein A5 T-1131C and apolipoprotein E common genetic variants on the levels of hemostatic markers in dyslipidemic patients. Novotny D et al. 2014 Clinica chimica acta; international journal of clinical chemistry
24886709 Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Ko A et al. 2014 Nature communications
24887437 Insulin resistance: regression and clustering. Yoon S et al. 2014 PloS one
24903888 Triglyceride-raising APOA5 genetic variants are associated with obesity and non-HDL-C in Chinese children and adolescents. Zhu WF et al. 2014 Lipids in health and disease
24918908 Genomic and metabolomic profile associated to microalbuminuria. Marrachelli VG et al. 2014 PloS one
24991929 Association of common genetic variants with lipid traits in the Indian population. Walia GK et al. 2014 PloS one
25005712 Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans. Chung SK et al. 2014 BMC complementary and alternative medicine
25176936 Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia. De Castro-Orós I et al. 2014 Circulation. Cardiovascular genetics
25313938 Influences of APOA5 variants on plasma triglyceride levels in Uyghur population. Li S et al. 2014 PloS one
25430627 A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake. Goni L et al. 2015 Genes & nutrition
25500319 Association between polymorphisms in genes involved in lipid metabolism and immunological status in chronically HIV-infected patients. Echeverria P et al. 2015 Antiviral research
25646961 Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study. Nakatochi M et al. 2015 PloS one
25685286 Adiponectin: Probe of the molecular paradigm associating diabetes and obesity. Ghoshal K et al. 2015 World journal of diabetes
25770687 APOA5 variants predispose hyperlipidemic patients to atherogenic dyslipidemia and subclinical atherosclerosis. Guardiola M et al. 2015 Atherosclerosis
26309253 Positive Association between APOA5 rs662799 Polymorphism and Coronary Heart Disease: A Case-Control Study and Meta-Analysis. Ye H et al. 2015 PloS one
26365620 Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men. Son KY et al. 2015 Lipids in health and disease
26365669 Interaction of dietary fat intake with APOA2, APOA5 and LEPR polymorphisms and its relationship with obesity and dyslipidemia in young subjects. Domínguez-Reyes T et al. 2015 Lipids in health and disease
26446360 Mendelian randomization studies of biomarkers and type 2 diabetes. Abbasi A et al. 2015 Endocrine connections
26679785 Apolipoprotein A-V gene therapy for disease prevention / treatment: a critical analysis. Forte TM et al. 2016 Journal of biomedical research
26690388 Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. Tang CS et al. 2015 Nature communications
26702748 The Relation between Metabolic Syndrome Risk Factors and Genetic Variations of Apolipoprotein V in Relation with Serum Triglyceride and HDL-C Level. Fallah MS et al. 2016 Archives of Iranian medicine
26824674 Interactions of Environmental Factors and APOA1-APOC3-APOA4-APOA5 Gene Cluster Gene Polymorphisms with Metabolic Syndrome. Wu Y et al. 2016 PloS one
26971241 Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans. Larifla L et al. 2016 The Canadian journal of cardiology
26981194 Complexity of vitamin E metabolism. Schmölz L et al. 2016 World journal of biological chemistry
27067897 Association of immune recovery with hyperlipidaemia and apolipoprotein gene polymorphisms following highly active antiretroviral therapy in a cohort of Chinese HIV patients. Chan DP et al. 2016 BMJ open
27177774 Interactive effects of C-reactive protein levels on the association between APOE variants and triglyceride levels in a Taiwanese population. Wu S et al. 2016 Lipids in health and disease
27222817 Association of G894T eNOS, 4G/5G PAI and T1131C APOA5 polymorphisms with susceptibility to myocardial infarction in Morocco. Hassani Idrissi H et al. 2016 Meta gene
27245511 Effect of dietary energy and polymorphisms in BRAP and GHRL on obesity and metabolic traits. Imaizumi T et al. 2018 Obesity research & clinical practice
27257688 Distinct Patterns of Association of Variants at 11q23.3 Chromosomal Region with Coronary Artery Disease and Dyslipidemia in the Population of Andhra Pradesh, India. Pranav Chand R et al. 2016 PloS one
27342221 Selecting instruments for Mendelian randomization in the wake of genome-wide association studies. Swerdlow DI et al. 2016 International journal of epidemiology
27415775 Gene Polymorphisms Affect the Effectiveness of Atorvastatin in Treating Ischemic Stroke Patients. Yue YH et al. 2016 Cellular physiology and biochemistry
27496343 Apolipoprotein A5 fifteen years anniversary: Lessons from genetic epidemiology. Hubacek JA et al. 2016 Gene
27612170 Associations of Rs3744841 and Rs3744843 Polymorphisms in Endothelial Lipase Gene with Risk of Coronary Artery Disease and Lipid Levels in a Chinese Population. Cai G et al. 2016 PloS one
27677442 Associations between explorative dietary patterns and serum lipid levels and their interactions with ApoA5 and ApoE haplotype in patients with recently diagnosed type 2 diabetes. Weber KS et al. 2016 Cardiovascular diabetology
27684940 Gene Polymorphisms of FABP2, ADIPOQ and ANP and Risk of Hypertriglyceridemia and Metabolic Syndrome in Afro-Caribbeans. Larifla L et al. 2016 PloS one
27716211 A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics. Beaney KE et al. 2016 Cardiovascular diabetology
27827461 Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population. Lin E et al. 2016 Scientific reports
28102463 Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples. Sumegi K et al. 2017 Pathology oncology research
28133617 Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected Women. Franzago M et al. 2017 Journal of diabetes research
28134330 Associations of triglyceride levels with longevity and frailty: A Mendelian randomization analysis. Liu Z et al. 2017 Scientific reports
28143480 Common variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects. Shahid SU et al. 2017 Lipids in health and disease
28167353 Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants. Shahid SU et al. 2017 Atherosclerosis
28388928 SNPPhenA: a corpus for extracting ranked associations of single-nucleotide polymorphisms and phenotypes from literature. Bokharaeian B et al. 2017 Journal of biomedical semantics
28610615 Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India. Pranavchand R et al. 2017 Lipids in health and disease
28623937 The association of lipid metabolism relative gene polymorphisms and ischemic stroke in Han and Uighur population of Xinjiang. Yue YH et al. 2017 Lipids in health and disease
28635360 The association between apolipoprotein A1-C3-A5 gene cluster promoter polymorphisms and risk of ischemic stroke in the northern Chinese Han population. Wang Y et al. 2017 The Journal of international medical research
28705542 Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. Ansari WM et al. 2017 Cytokine
28730827 Glucose added to a fat load suppresses the postprandial triglyceridemia response in carriers of the -1131C and 56G variants of the APOA5 gene. Zemánková K et al. 2017 Physiological research
28865324 The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis. Au A et al. 2017 Atherosclerosis
28947988 Association analysis of <i>APO</i> gene polymorphisms with ischemic stroke risk: a case-control study in a Chinese Han population. Xiao R et al. 2017 Oncotarget
29016630 Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers. Kubo Y et al. 2017 PloS one
29211729 A promoter variant of the APOA5 gene increases atherogenic LDL levels and arterial stiffness in hypertriglyceridemic patients. Kim M et al. 2017 PloS one
29212154 Detection of susceptibility loci on <i>APOA5</i> and <i>COLEC12</i> associated with metabolic syndrome using a genome-wide association study in a Taiwanese population. Lin E et al. 2017 Oncotarget
29264753 The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases. Fahrioğlu U et al. 2018 Biochemical genetics
29310573 Association of rs662799 in APOA5 with CAD in Chinese Han population. Chen H et al. 2018 BMC cardiovascular disorders
29325775 Nutrigenetic variants and cardio-metabolic risk in women with or without gestational diabetes. Franzago M et al. 2018 Diabetes research and clinical practice
29398535 The Methylenetetrahydrofolate Reductase C677T (rs1801133) and Apolipoprotein A5-1131T&gt;C (rs662799) Polymorphisms, and Anemia Are Independent Risk Factors for Ischemic Stroke. Escobedo J et al. 2018 Journal of stroke and cerebrovascular diseases
29399298 <i>Apolipoprotein A5</i> 3'-UTR variants and cardiometabolic traits in Koreans: results from the Korean genome and epidemiology study and the Korea National Health and Nutrition Examination Survey. Kim OY et al. 2018 Nutrition research and practice
29404214 Gene-based association study for lipid traits in diverse cohorts implicates <i>BACE1</i> and <i>SIDT2</i> regulation in triglyceride levels. Andaleon A et al. 2018 PeerJ
29686695 Sequence Analysis of <i>APOA5</i> Among the Kuwaiti Population Identifies Association of rs2072560, rs2266788, and rs662799 With TG and VLDL Levels. Jasim AA et al. 2018 Frontiers in genetics
29695967 Influence of <i>APOA5</i> Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects. Hua S et al. 2018 Frontiers in pharmacology
29705673 ACE, APOA5, and MTP Gene Polymorphisms Analysis in Relation to Triglyceride and Insulin Levels in Pediatric Patients. Carranza-González L et al. 2018 Archives of medical research
29735301 Apolipoprotein A5 gene polymorphisms are associated with non-alcoholic fatty liver disease. Xu Y et al. 2018 Hepatobiliary & pancreatic diseases international
29758349 Habitual aerobic exercise, gene APOA5 named rs662799 SNP and response of blood lipid and lipoprotein phenotypes among older Chinese adult. Liu X et al. 2018 Experimental gerontology
29866721 Effects of polymorphisms in APOA5 on the plasma levels of triglycerides and risk of coronary heart disease in Jilin, northeast China: a case-control study. You Y et al. 2018 BMJ open
30026888 Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study. Marateb HR et al. 2018 Computational and structural biotechnology journal
30132804 Apolipoprotein A5 gene variants are associated with decreased adiponectin levels and increased arterial stiffness in subjects with low high-density lipoprotein-cholesterol levels. Kim M et al. 2018 Clinical genetics
30367981 Association of apolipoprotein A1 and A5 polymorphisms with stroke subtypes in Han Chinese people in Taiwan. Hsu LC et al. 2019 Gene
30472712 Variants in APOA5 and ADIPOQ Moderate Improvements in Metabolic Syndrome during a One-Year Lifestyle Intervention. Lowry DE et al. 2018 Lifestyle genomics
30684189 Association between selected cholesterol-related gene polymorphisms and Alzheimer's disease in a Turkish cohort. Guven G et al. 2019 Molecular biology reports
30834809 Lipid metabolism genetic risk score interacts with the Brazilian Healthy Eating Index Revised and its components to influence the odds for dyslipidemia in a cross-sectional population-based survey in Brazil. Fujii TMM et al. 2019 Nutrition and health
30890818 Association study of Apolipoprotein A5 gene (APOA5 gene) variant with the metabolic syndrome in local Pakistani population. Fiaz M et al. 2019 JPMA. The Journal of the Pakistan Medical Association

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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