dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
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.
rs2854117
Current Build 155
Released April 9, 2021
- Organism
- Homo sapiens
- Position
-
chr11:116829426 (GRCh38.p13) 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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.416321 (110196/264690, TOPMED)T=0.411965 (57704/140070, GnomAD)T=0.33405 (13813/41350, ALFA) (+ 14 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- APOC3 : 2KB Upstream Variant
- Publications
- 42 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 41350 | T=0.33405 | A=0.00000, C=0.66595 |
| European | Sub | 33840 | T=0.27426 | A=0.00000, C=0.72574 |
| African | Sub | 5222 | T=0.7108 | A=0.0000, C=0.2892 |
| African Others | Sub | 174 | T=0.810 | A=0.000, C=0.190 |
| African American | Sub | 5048 | T=0.7074 | A=0.0000, C=0.2926 |
| Asian | Sub | 184 | T=0.391 | A=0.000, C=0.609 |
| East Asian | Sub | 160 | T=0.412 | A=0.000, C=0.588 |
| Other Asian | Sub | 24 | T=0.25 | A=0.00, C=0.75 |
| Latin American 1 | Sub | 146 | T=0.438 | A=0.000, C=0.562 |
| Latin American 2 | Sub | 610 | T=0.300 | A=0.000, C=0.700 |
| South Asian | Sub | 100 | T=0.38 | A=0.00, C=0.62 |
| Other | Sub | 1248 | T=0.3710 | A=0.0000, C=0.6290 |
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | T=0.416321 | C=0.583679 |
| gnomAD - Genomes | Global | Study-wide | 140070 | T=0.411965 | C=0.588035 |
| gnomAD - Genomes | European | Sub | 75862 | T=0.27915 | C=0.72085 |
| gnomAD - Genomes | African | Sub | 41962 | T=0.67323 | C=0.32677 |
| gnomAD - Genomes | American | Sub | 13650 | T=0.37458 | C=0.62542 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=0.2930 | C=0.7070 |
| gnomAD - Genomes | East Asian | Sub | 3122 | T=0.4222 | C=0.5778 |
| gnomAD - Genomes | Other | Sub | 2150 | T=0.4056 | C=0.5944 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | T=0.47882 | C=0.52118 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.5008 | C=0.4992 |
| 1000Genomes | African | Sub | 1322 | T=0.7587 | C=0.2413 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.4742 | C=0.5258 |
| 1000Genomes | Europe | Sub | 1006 | T=0.2972 | C=0.7028 |
| 1000Genomes | South Asian | Sub | 978 | T=0.475 | C=0.525 |
| 1000Genomes | American | Sub | 694 | T=0.379 | C=0.621 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.3400 | C=0.6600 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.2564 | C=0.7436 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.2497 | C=0.7503 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2928 | T=0.4307 | A=0.0000, C=0.5693 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 776 | T=0.441 | C=0.559 |
| CNV burdens in cranial meningiomas | CRM | Sub | 776 | T=0.441 | C=0.559 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.260 | C=0.740 |
| SGDP_PRJ | Global | Study-wide | 436 | T=0.291 | C=0.709 |
| PharmGKB Aggregated | Global | Study-wide | 288 | T=0.479 | C=0.521 |
| PharmGKB Aggregated | PA130077414 | Sub | 144 | T=0.479 | C=0.521 |
| PharmGKB Aggregated | PA130078196 | Sub | 144 | T=0.479 | C=0.521 |
| Qatari | Global | Study-wide | 216 | T=0.394 | C=0.606 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.411 | C=0.589 |
| Siberian | Global | Study-wide | 50 | T=0.26 | C=0.74 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.15 | C=0.85 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p13 chr 11 | NC_000011.10:g.116829426T>A |
| GRCh38.p13 chr 11 | NC_000011.10:g.116829426T>C |
| GRCh37.p13 chr 11 | NC_000011.9:g.116700142T>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.116700142T>C |
| APOC3 RefSeqGene | NG_008949.1:g.4519T>A |
| APOC3 RefSeqGene | NG_008949.1:g.4519T>C |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| APOC3 transcript | NM_000040.3:c. | N/A | Upstream Transcript Variant |
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.
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 | T= | A | C |
|---|---|---|---|
| GRCh38.p13 chr 11 | NC_000011.10:g.116829426= | NC_000011.10:g.116829426T>A | NC_000011.10:g.116829426T>C |
| GRCh37.p13 chr 11 | NC_000011.9:g.116700142= | NC_000011.9:g.116700142T>A | NC_000011.9:g.116700142T>C |
| APOC3 RefSeqGene | NG_008949.1:g.4519= | NG_008949.1:g.4519T>A | NG_008949.1:g.4519T>C |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss4040952 | Sep 28, 2001 (100) |
| 2 | CSHL-HAPMAP | ss16513368 | Feb 27, 2004 (120) |
| 3 | SSAHASNP | ss20764210 | Apr 05, 2004 (121) |
| 4 | IMCJ-GDT | ss22886770 | Apr 05, 2004 (121) |
| 5 | PARC | ss23145001 | Sep 20, 2004 (126) |
| 6 | ABI | ss38758291 | Mar 13, 2006 (130) |
| 7 | RSG_JCVI | ss69359403 | May 18, 2007 (127) |
| 8 | PHARMGKB_PARC | ss69366319 | May 18, 2007 (127) |
| 9 | PHARMGKB_PARC | ss69366333 | May 18, 2007 (127) |
| 10 | HUMANGENOME_JCVI | ss97514452 | Feb 04, 2009 (130) |
| 11 | ENSEMBL | ss131957021 | Dec 01, 2009 (131) |
| 12 | GMI | ss156838650 | Dec 01, 2009 (131) |
| 13 | COMPLETE_GENOMICS | ss168765947 | Jul 04, 2010 (132) |
| 14 | BUSHMAN | ss203260115 | Jul 04, 2010 (132) |
| 15 | BCM-HGSC-SUB | ss207536799 | Jul 04, 2010 (132) |
| 16 | 1000GENOMES | ss235734880 | Jul 15, 2010 (132) |
| 17 | ILLUMINA | ss244294595 | Jul 04, 2010 (132) |
| 18 | GMI | ss281185590 | May 04, 2012 (137) |
| 19 | GMI | ss286464935 | Apr 25, 2013 (138) |
| 20 | PJP | ss291147931 | May 09, 2011 (134) |
| 21 | SSMP | ss658374229 | Apr 25, 2013 (138) |
| 22 | EVA-GONL | ss989003788 | Aug 21, 2014 (142) |
| 23 | JMKIDD_LAB | ss1078076151 | Aug 21, 2014 (142) |
| 24 | 1000GENOMES | ss1343124226 | Aug 21, 2014 (142) |
| 25 | DDI | ss1426773787 | Apr 01, 2015 (144) |
| 26 | EVA_GENOME_DK | ss1575976526 | Apr 01, 2015 (144) |
| 27 | EVA_DECODE | ss1598670618 | Apr 01, 2015 (144) |
| 28 | EVA_UK10K_ALSPAC | ss1627549338 | Apr 01, 2015 (144) |
| 29 | EVA_UK10K_TWINSUK | ss1670543371 | Apr 01, 2015 (144) |
| 30 | HAMMER_LAB | ss1807014098 | Sep 08, 2015 (146) |
| 31 | WEILL_CORNELL_DGM | ss1932365866 | Feb 12, 2016 (147) |
| 32 | ILLUMINA | ss1959389310 | Feb 12, 2016 (147) |
| 33 | GENOMED | ss1967468788 | Jul 19, 2016 (147) |
| 34 | JJLAB | ss2026926730 | Sep 14, 2016 (149) |
| 35 | USC_VALOUEV | ss2155240232 | Dec 20, 2016 (150) |
| 36 | HUMAN_LONGEVITY | ss2186034987 | Dec 20, 2016 (150) |
| 37 | TOPMED | ss2349627207 | Dec 20, 2016 (150) |
| 38 | SYSTEMSBIOZJU | ss2627938055 | Nov 08, 2017 (151) |
| 39 | GRF | ss2699551048 | Nov 08, 2017 (151) |
| 40 | ILLUMINA | ss2710747145 | Nov 08, 2017 (151) |
| 41 | GNOMAD | ss2904901521 | Nov 08, 2017 (151) |
| 42 | AFFY | ss2984958404 | Nov 08, 2017 (151) |
| 43 | AFFY | ss2985600303 | Nov 08, 2017 (151) |
| 44 | SWEGEN | ss3008843430 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss3021380141 | Nov 08, 2017 (151) |
| 46 | BIOINF_KMB_FNS_UNIBA | ss3027264532 | Nov 08, 2017 (151) |
| 47 | TOPMED | ss3157414681 | Nov 08, 2017 (151) |
| 48 | TOPMED | ss3157414682 | Nov 08, 2017 (151) |
| 49 | CSHL | ss3349813485 | Nov 08, 2017 (151) |
| 50 | URBANLAB | ss3649713685 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3651748476 | Oct 12, 2018 (152) |
| 52 | ILLUMINA | ss3653730583 | Oct 12, 2018 (152) |
| 53 | EGCUT_WGS | ss3676171546 | Jul 13, 2019 (153) |
| 54 | EVA_DECODE | ss3692675815 | Jul 13, 2019 (153) |
| 55 | ILLUMINA | ss3725279982 | Jul 13, 2019 (153) |
| 56 | ACPOP | ss3738573980 | Jul 13, 2019 (153) |
| 57 | EVA | ss3749861095 | Jul 13, 2019 (153) |
| 58 | PACBIO | ss3787077788 | Jul 13, 2019 (153) |
| 59 | PACBIO | ss3792200433 | Jul 13, 2019 (153) |
| 60 | PACBIO | ss3797082966 | Jul 13, 2019 (153) |
| 61 | KHV_HUMAN_GENOMES | ss3815189812 | Jul 13, 2019 (153) |
| 62 | EVA | ss3832858199 | Apr 26, 2020 (154) |
| 63 | EVA | ss3839992065 | Apr 26, 2020 (154) |
| 64 | EVA | ss3845473877 | Apr 26, 2020 (154) |
| 65 | SGDP_PRJ | ss3877218515 | Apr 26, 2020 (154) |
| 66 | KRGDB | ss3925680838 | Apr 26, 2020 (154) |
| 67 | EVA | ss3984658020 | Apr 26, 2021 (155) |
| 68 | TOPMED | ss4901355030 | Apr 26, 2021 (155) |
| 69 | TOMMO_GENOMICS | ss5204064920 | Apr 26, 2021 (155) |
| 70 | 1000Genomes | NC_000011.9 - 116700142 | Oct 12, 2018 (152) |
| 71 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 116700142 | Oct 12, 2018 (152) |
| 72 | Genetic variation in the Estonian population | NC_000011.9 - 116700142 | Oct 12, 2018 (152) |
| 73 | The Danish reference pan genome | NC_000011.9 - 116700142 | Apr 26, 2020 (154) |
| 74 | gnomAD - Genomes | NC_000011.10 - 116829426 | Apr 26, 2021 (155) |
| 75 | KOREAN population from KRGDB | NC_000011.9 - 116700142 | Apr 26, 2020 (154) |
| 76 | Northern Sweden | NC_000011.9 - 116700142 | Jul 13, 2019 (153) |
| 77 | CNV burdens in cranial meningiomas | NC_000011.9 - 116700142 | Apr 26, 2021 (155) |
| 78 | PharmGKB Aggregated | NC_000011.10 - 116829426 | Apr 26, 2020 (154) |
| 79 | Qatari | NC_000011.9 - 116700142 | Apr 26, 2020 (154) |
| 80 | SGDP_PRJ | NC_000011.9 - 116700142 | Apr 26, 2020 (154) |
| 81 | Siberian | NC_000011.9 - 116700142 | Apr 26, 2020 (154) |
| 82 | 8.3KJPN | NC_000011.9 - 116700142 | Apr 26, 2021 (155) |
| 83 | TopMed | NC_000011.10 - 116829426 | Apr 26, 2021 (155) |
| 84 | UK 10K study - Twins | NC_000011.9 - 116700142 | Oct 12, 2018 (152) |
| 85 | A Vietnamese Genetic Variation Database | NC_000011.9 - 116700142 | Jul 13, 2019 (153) |
| 86 | ALFA | NC_000011.10 - 116829426 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs17251242 | May 23, 2006 (127) |
| rs33989105 | May 24, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 32858232, ss3925680838 | NC_000011.9:116700141:T:A | NC_000011.10:116829425:T:A | (self) |
| 6030555398, ss3157414681 | NC_000011.10:116829425:T:A | NC_000011.10:116829425:T:A | (self) |
| ss168765947, ss203260115, ss207536799, ss281185590, ss286464935, ss291147931, ss1598670618 | NC_000011.8:116205351:T:C | NC_000011.10:116829425:T:C | (self) |
| 55711961, 30926989, 21909794, 2751307, 32858232, 11858845, 207506, 14407796, 29235495, 7756586, 62034227, 30926989, 6862969, ss235734880, ss658374229, ss989003788, ss1078076151, ss1343124226, ss1426773787, ss1575976526, ss1627549338, ss1670543371, ss1807014098, ss1932365866, ss1959389310, ss1967468788, ss2026926730, ss2155240232, ss2349627207, ss2627938055, ss2699551048, ss2710747145, ss2904901521, ss2984958404, ss2985600303, ss3008843430, ss3021380141, ss3349813485, ss3651748476, ss3653730583, ss3676171546, ss3738573980, ss3749861095, ss3787077788, ss3792200433, ss3797082966, ss3832858199, ss3839992065, ss3877218515, ss3925680838, ss3984658020, ss5204064920 | NC_000011.9:116700141:T:C | NC_000011.10:116829425:T:C | (self) |
| 393103009, 2157, 116900686, 6030555398, ss2186034987, ss3027264532, ss3157414682, ss3649713685, ss3692675815, ss3725279982, ss3815189812, ss3845473877, ss4901355030 | NC_000011.10:116829425:T:C | NC_000011.10:116829425:T:C | (self) |
| ss16513368, ss20764210 | NT_033899.6:20243928:T:C | NC_000011.10:116829425:T:C | (self) |
| ss4040952, ss22886770, ss23145001, ss38758291, ss69359403, ss69366319, ss69366333, ss97514452, ss131957021, ss156838650, ss244294595 | NT_033899.8:20262557:T:C | NC_000011.10:116829425:T:C | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16417409 | Associations among race/ethnicity, ApoC-III genotypes, and lipids in HIV-1-infected individuals on antiretroviral therapy. | Foulkes AS et al. | 2006 | PLoS medicine |
| 18096054 | Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample. | Pollex RL et al. | 2007 | BMC medical genetics |
| 18513389 | New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. | Penco S et al. | 2008 | BMC bioinformatics |
| 18789138 | The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides. | Dallongeville J et al. | 2008 | BMC medical genetics |
| 19014573 | Application of two machine learning algorithms to genetic association studies in the presence of covariates. | Nonyane BA et al. | 2008 | BMC genetics |
| 19041386 | Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. | Boes E et al. | 2009 | Experimental gerontology |
| 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 |
| 19131662 | A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. | Wang X et al. | 2009 | Stroke |
| 19263529 | Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. | Zee RY et al. | 2009 | Clinica chimica acta; international journal of clinical chemistry |
| 19424489 | Apolipoprotein C3 polymorphisms, cognitive function and diabetes in Caribbean origin Hispanics. | Smith CE et al. | 2009 | PloS one |
| 20335584 | Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. | Petersen KF et al. | 2010 | The New England journal of medicine |
| 20406163 | Fenofibrate and metabolic syndrome. | Kraja AT et al. | 2010 | Endocrine, metabolic & immune disorders drug targets |
| 20609972 | Lipid-induced insulin resistance: unravelling the mechanism. | Samuel VT et al. | 2010 | Lancet (London, England) |
| 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 |
| 21274868 | Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. | Kozlitina J et al. | 2011 | Hepatology (Baltimore, Md.) |
| 21663607 | Lack of effect of apolipoprotein C3 polymorphisms on indices of liver steatosis, lipid profile and insulin resistance in obese Southern Europeans. | Sentinelli F et al. | 2011 | Lipids in health and disease |
| 21700865 | Human fatty liver disease: old questions and new insights. | Cohen JC et al. | 2011 | Science (New York, N.Y.) |
| 21868769 | World Congress on Insulin Resistance, Diabetes, and Cardiovascular Disease: part 3. | Bloomgarden ZT et al. | 2011 | Diabetes care |
| 21887796 | Latent variable modeling paradigms for genotype-trait association studies. | Liu Y et al. | 2011 | Biometrical journal. Biometrische Zeitschrift |
| 22105854 | Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. | Santoro N et al. | 2012 | Hepatology (Baltimore, Md.) |
| 22141340 | Genetic variation in PNPLA3 but not APOC3 influences liver fat in non-alcoholic fatty liver disease. | Hyysalo J et al. | 2012 | Journal of gastroenterology and hepatology |
| 22848358 | Hypercholesterolemia is associated with the apolipoprotein C-III (APOC3) genotype in children receiving HAART: an eight-year retrospective study. | Rocco CA et al. | 2012 | PloS one |
| 23512881 | A gene variant of PNPLA3, but not of APOC3, is associated with histological parameters of NAFLD in an obese population. | Verrijken A et al. | 2013 | Obesity (Silver Spring, Md.) |
| 23808989 | Abdominal fat interacts with PNPLA3 I148M, but not with the APOC3 variant in the pathogenesis of liver steatosis in chronic hepatitis C. | Zampino R et al. | 2013 | Journal of viral hepatitis |
| 24707151 | Lack of association between apolipoprotein C3 gene polymorphisms and risk of nonalcoholic fatty liver disease in a Chinese Han population. | Niu TH et al. | 2014 | World journal of gastroenterology |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 24966605 | Pediatric fatty liver disease: role of ethnicity and genetics. | Marzuillo P et al. | 2014 | World journal of gastroenterology |
| 25018854 | Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study. | Kanth VV et al. | 2014 | World journal of hepatology |
| 25319715 | Apolipoprotein C3 gene polymorphisms in Southern Indian patients with nonalcoholic fatty liver disease. | Puppala J et al. | 2014 | Indian journal of gastroenterology |
| 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 |
| 26965314 | Gene polymorphisms associated with non-alcoholic fatty liver disease and coronary artery disease: a concise review. | Li XL et al. | 2016 | Lipids in health and disease |
| 27059980 | APOC3 rs2070666 Is Associated with the Hepatic Steatosis Independently of PNPLA3 rs738409 in Chinese Han Patients with Nonalcoholic Fatty Liver Diseases. | Zhang RN et al. | 2016 | Digestive diseases and sciences |
| 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 |
| 27458502 | Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management. | Ravi Kanth VV et al. | 2016 | World journal of hepatology |
| 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 |
| 27690381 | Association of Apolipoprotein C3 Genetic Polymorphisms with the Risk of Ischemic Stroke in the Northern Chinese Han Population. | Wang Y et al. | 2016 | PloS one |
| 28596988 | NAFLD Susceptibility Genes and their Association with Type 2 Diabetes and Obesity in a New Mexico Population. | Garner CJ et al. | 2015 | Journal of diabetes and obesity |
| 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 |
| 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 |
| 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 |
| 31856839 | Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's. | Malalla ZH et al. | 2019 | Lipids in health and disease |
| 32525256 | APOC3rs2854116, PNPLA3rs738409, and TM6SF2rs58542926 polymorphisms might influence predisposition of NAFLD: A meta-analysis. | Tong M et al. | 2020 | IUBMB life |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.