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.
rs328
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:19962213 (GRCh38.p14) 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
- C>A / C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.087925 (23273/264690, TOPMED)G=0.092156 (23148/251182, GnomAD_exome)G=0.089338 (12522/140164, GnomAD) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- LPL : Stop Gained
- Publications
- 128 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.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 114936 | C=0.900379 | G=0.099621 | 0.811043 | 0.010284 | 0.178673 | 1 |
| European | Sub | 97106 | C=0.89839 | G=0.10161 | 0.807571 | 0.010792 | 0.181637 | 1 |
| African | Sub | 4402 | C=0.9282 | G=0.0718 | 0.859609 | 0.00318 | 0.13721 | 1 |
| African Others | Sub | 174 | C=0.943 | G=0.057 | 0.896552 | 0.011494 | 0.091954 | 1 |
| African American | Sub | 4228 | C=0.9276 | G=0.0724 | 0.858089 | 0.002838 | 0.139073 | 2 |
| Asian | Sub | 3326 | C=0.8978 | G=0.1022 | 0.80457 | 0.00902 | 0.18641 | 0 |
| East Asian | Sub | 2670 | C=0.8820 | G=0.1180 | 0.775281 | 0.011236 | 0.213483 | 1 |
| Other Asian | Sub | 656 | C=0.962 | G=0.038 | 0.92378 | 0.0 | 0.07622 | 0 |
| Latin American 1 | Sub | 794 | C=0.907 | G=0.093 | 0.816121 | 0.002519 | 0.18136 | 1 |
| Latin American 2 | Sub | 962 | C=0.930 | G=0.070 | 0.866944 | 0.006237 | 0.126819 | 0 |
| South Asian | Sub | 274 | C=0.898 | G=0.102 | 0.810219 | 0.014599 | 0.175182 | 0 |
| Other | Sub | 8072 | C=0.9061 | G=0.0939 | 0.821853 | 0.009663 | 0.168484 | 0 |
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 | C=0.912075 | G=0.087925 |
| gnomAD - Exomes | Global | Study-wide | 251182 | C=0.907844 | G=0.092156 |
| gnomAD - Exomes | European | Sub | 135160 | C=0.900703 | G=0.099297 |
| gnomAD - Exomes | Asian | Sub | 49000 | C=0.89763 | G=0.10237 |
| gnomAD - Exomes | American | Sub | 34568 | C=0.94472 | G=0.05528 |
| gnomAD - Exomes | African | Sub | 16254 | C=0.92845 | G=0.07155 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10072 | C=0.89525 | G=0.10475 |
| gnomAD - Exomes | Other | Sub | 6128 | C=0.9050 | G=0.0950 |
| gnomAD - Genomes | Global | Study-wide | 140164 | C=0.910662 | G=0.089338 |
| gnomAD - Genomes | European | Sub | 75916 | C=0.89989 | G=0.10011 |
| gnomAD - Genomes | African | Sub | 42016 | C=0.92917 | G=0.07083 |
| gnomAD - Genomes | American | Sub | 13636 | C=0.91992 | G=0.08008 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.8949 | G=0.1051 |
| gnomAD - Genomes | East Asian | Sub | 3124 | C=0.8947 | G=0.1053 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.9182 | G=0.0818 |
| ExAC | Global | Study-wide | 121282 | C=0.906499 | G=0.093501 |
| ExAC | Europe | Sub | 73308 | C=0.89981 | G=0.10019 |
| ExAC | Asian | Sub | 25146 | C=0.89712 | G=0.10288 |
| ExAC | American | Sub | 11532 | C=0.94693 | G=0.05307 |
| ExAC | African | Sub | 10388 | C=0.92992 | G=0.07008 |
| ExAC | Other | Sub | 908 | C=0.925 | G=0.075 |
| Allele Frequency Aggregator | Total | Global | 114936 | C=0.900379 | G=0.099621 |
| Allele Frequency Aggregator | European | Sub | 97106 | C=0.89839 | G=0.10161 |
| Allele Frequency Aggregator | Other | Sub | 8072 | C=0.9061 | G=0.0939 |
| Allele Frequency Aggregator | African | Sub | 4402 | C=0.9282 | G=0.0718 |
| Allele Frequency Aggregator | Asian | Sub | 3326 | C=0.8978 | G=0.1022 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 962 | C=0.930 | G=0.070 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 794 | C=0.907 | G=0.093 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | C=0.898 | G=0.102 |
| The PAGE Study | Global | Study-wide | 78694 | C=0.92096 | G=0.07904 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.93046 | G=0.06954 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.93340 | G=0.06660 |
| The PAGE Study | Asian | Sub | 8316 | C=0.8808 | G=0.1192 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.9168 | G=0.0832 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9127 | G=0.0873 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.8931 | G=0.1069 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.9274 | G=0.0726 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9412 | G=0.0588 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9294 | G=0.0706 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9278 | G=0.0722 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.897 | G=0.103 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.87066 | G=0.12934 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.87017 | G=0.12983 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9065 | G=0.0935 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9390 | G=0.0610 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.8578 | G=0.1422 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9143 | G=0.0857 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.8786 | G=0.1214 |
| 1000Genomes_30x | American | Sub | 980 | C=0.934 | G=0.066 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9075 | G=0.0925 |
| 1000Genomes | African | Sub | 1322 | C=0.9387 | G=0.0613 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.8780 | G=0.1220 |
| 1000Genomes | Europe | Sub | 1006 | C=0.8698 | G=0.1302 |
| 1000Genomes | South Asian | Sub | 978 | C=0.914 | G=0.086 |
| 1000Genomes | American | Sub | 694 | C=0.937 | G=0.063 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9330 | G=0.0670 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8934 | G=0.1066 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.8921 | G=0.1079 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.8792 | G=0.1208 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | C=0.9083 | G=0.0917 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.932 | G=0.068 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.889 | G=0.111 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 120 | C=0.917 | G=0.083 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.852 | G=0.148 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.84 | G=0.16 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.92 | G=0.08 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.882 | G=0.118 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.925 | G=0.075 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.925 | G=0.075 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | C=0.873 | G=0.127 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.915 | G=0.085 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.848 | G=0.152 |
| HapMap | Global | Study-wide | 328 | C=0.902 | G=0.098 |
| HapMap | African | Sub | 120 | C=0.967 | G=0.033 |
| HapMap | American | Sub | 120 | C=0.875 | G=0.125 |
| HapMap | Asian | Sub | 88 | C=0.85 | G=0.15 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.908 | G=0.092 |
| Qatari | Global | Study-wide | 216 | C=0.926 | G=0.074 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 102 | C=0.804 | G=0.196 |
| SGDP_PRJ | Global | Study-wide | 76 | C=0.47 | G=0.53 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.90 | G=0.10 |
| Siberian | Global | Study-wide | 6 | C=0.5 | G=0.5 |
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.p14 chr 8 | NC_000008.11:g.19962213C>A |
| GRCh38.p14 chr 8 | NC_000008.11:g.19962213C>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819724C>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819724C>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.65497C>A |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.65497C>G |
Gene: LPL, lipoprotein lipase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LPL transcript | NM_000237.3:c.1421C>A | S [TCA] > * [TAA] | Coding Sequence Variant |
| lipoprotein lipase precursor | NP_000228.1:p.Ser474Ter | S (Ser) > * (Ter) | Stop Gained |
| LPL transcript | NM_000237.3:c.1421C>G | S [TCA] > * [TGA] | Coding Sequence Variant |
| lipoprotein lipase precursor | NP_000228.1:p.Ser474Ter | S (Ser) > * (Ter) | Stop Gained |
Help
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:
783072
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000978630.3 | not provided | Benign |
Allele: G (allele ID:
16573
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000001598.2 | LIPOPROTEIN LIPASE POLYMORPHISM | Benign |
| RCV000385586.3 | Hyperlipoproteinemia, type I | Benign |
| RCV001511819.3 | not provided | Benign |
| RCV001804709.1 | not specified | Benign |
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 | C= | A | G |
|---|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.19962213= | NC_000008.11:g.19962213C>A | NC_000008.11:g.19962213C>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819724= | NC_000008.10:g.19819724C>A | NC_000008.10:g.19819724C>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.65497= | NG_008855.2:g.65497C>A | NG_008855.2:g.65497C>G |
| LPL transcript | NM_000237.3:c.1421= | NM_000237.3:c.1421C>A | NM_000237.3:c.1421C>G |
| LPL transcript | NM_000237.2:c.1421= | NM_000237.2:c.1421C>A | NM_000237.2:c.1421C>G |
| lipoprotein lipase precursor | NP_000228.1:p.Ser474= | NP_000228.1:p.Ser474Ter | NP_000228.1:p.Ser474Ter |
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#.
137 SubSNP,
27 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DEBNICK | ss329 | Sep 19, 2000 (36) |
| 2 | WIAF-CSNP | ss3173350 | Aug 15, 2001 (98) |
| 3 | YUSUKE | ss4921960 | Aug 28, 2002 (108) |
| 4 | BCM_SSAHASNP | ss10467174 | Jul 11, 2003 (116) |
| 5 | IMCJ-GDT | ss16343000 | Feb 27, 2004 (120) |
| 6 | PERLEGEN | ss24648907 | Sep 20, 2004 (123) |
| 7 | APPLERA_GI | ss48420139 | Mar 13, 2006 (126) |
| 8 | PERLEGEN | ss69043156 | May 18, 2007 (127) |
| 9 | SI_EXO | ss71648660 | May 18, 2007 (127) |
| 10 | AFFY | ss74808885 | Aug 16, 2007 (128) |
| 11 | PAGE_STUDY | ss181341878 | Jul 04, 2010 (132) |
| 12 | PAGE_STUDY | ss181834342 | Jul 04, 2010 (132) |
| 13 | PAGE_STUDY | ss181835906 | Jul 04, 2010 (132) |
| 14 | PAGE_STUDY | ss182258758 | Jul 04, 2010 (132) |
| 15 | BUSHMAN | ss198888197 | Jul 04, 2010 (132) |
| 16 | 1000GENOMES | ss217321427 | Jul 14, 2010 (132) |
| 17 | 1000GENOMES | ss217397633 | Jul 14, 2010 (132) |
| 18 | 1000GENOMES | ss217399174 | Jul 14, 2010 (132) |
| 19 | 1000GENOMES | ss217407233 | Jul 14, 2010 (132) |
| 20 | 1000GENOMES | ss217418296 | Jul 14, 2010 (132) |
| 21 | 1000GENOMES | ss217419027 | Jul 14, 2010 (132) |
| 22 | 1000GENOMES | ss217422429 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss223585670 | Jul 14, 2010 (132) |
| 24 | 1000GENOMES | ss234352504 | Jul 15, 2010 (132) |
| 25 | 1000GENOMES | ss241227319 | Jul 15, 2010 (132) |
| 26 | OMICIA | ss244238714 | May 27, 2010 (132) |
| 27 | ILLUMINA | ss244294501 | Jul 04, 2010 (132) |
| 28 | OMIM-CURATED-RECORDS | ss252841585 | Aug 10, 2010 (132) |
| 29 | BL | ss254171515 | May 09, 2011 (134) |
| 30 | GMI | ss279724045 | May 04, 2012 (137) |
| 31 | NHLBI-ESP | ss342253806 | May 09, 2011 (134) |
| 32 | ILLUMINA | ss410878568 | Sep 17, 2011 (135) |
| 33 | ILLUMINA | ss484193264 | May 04, 2012 (137) |
| 34 | ILLUMINA | ss485584695 | May 04, 2012 (137) |
| 35 | 1000GENOMES | ss490960926 | May 04, 2012 (137) |
| 36 | EXOME_CHIP | ss491410902 | May 04, 2012 (137) |
| 37 | CLINSEQ_SNP | ss491921994 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss536381272 | Sep 08, 2015 (146) |
| 39 | SSMP | ss655035593 | Apr 25, 2013 (138) |
| 40 | ILLUMINA | ss779528090 | Aug 21, 2014 (142) |
| 41 | ILLUMINA | ss780867941 | Aug 21, 2014 (142) |
| 42 | ILLUMINA | ss782542564 | Aug 21, 2014 (142) |
| 43 | ILLUMINA | ss783552875 | Aug 21, 2014 (142) |
| 44 | ILLUMINA | ss834998628 | Aug 21, 2014 (142) |
| 45 | EVA-GONL | ss985272683 | Aug 21, 2014 (142) |
| 46 | JMKIDD_LAB | ss1067495952 | Aug 21, 2014 (142) |
| 47 | JMKIDD_LAB | ss1075340057 | Aug 21, 2014 (142) |
| 48 | 1000GENOMES | ss1328915353 | Aug 21, 2014 (142) |
| 49 | HAMMER_LAB | ss1397520212 | Sep 08, 2015 (146) |
| 50 | EVA_GENOME_DK | ss1582593788 | Apr 01, 2015 (144) |
| 51 | EVA_FINRISK | ss1584057350 | Apr 01, 2015 (144) |
| 52 | EVA_DECODE | ss1594862344 | Apr 01, 2015 (144) |
| 53 | EVA_UK10K_ALSPAC | ss1620133815 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_TWINSUK | ss1663127848 | Apr 01, 2015 (144) |
| 55 | EVA_EXAC | ss1689111743 | Apr 01, 2015 (144) |
| 56 | EVA_MGP | ss1711194717 | Apr 01, 2015 (144) |
| 57 | ILLUMINA | ss1752723251 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss1917826331 | Feb 12, 2016 (147) |
| 59 | WEILL_CORNELL_DGM | ss1928562440 | Feb 12, 2016 (147) |
| 60 | ILLUMINA | ss1946231552 | Feb 12, 2016 (147) |
| 61 | ILLUMINA | ss1959093919 | Feb 12, 2016 (147) |
| 62 | JJLAB | ss2024980591 | Sep 14, 2016 (149) |
| 63 | ILLUMINA | ss2094987020 | Dec 20, 2016 (150) |
| 64 | ILLUMINA | ss2095209247 | Dec 20, 2016 (150) |
| 65 | USC_VALOUEV | ss2153202052 | Dec 20, 2016 (150) |
| 66 | HUMAN_LONGEVITY | ss2301288406 | Dec 20, 2016 (150) |
| 67 | ILLUMINA | ss2634720469 | Nov 08, 2017 (151) |
| 68 | ILLUMINA | ss2634720470 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2634720471 | Nov 08, 2017 (151) |
| 70 | GRF | ss2708962560 | Nov 08, 2017 (151) |
| 71 | GNOMAD | ss2737022600 | Nov 08, 2017 (151) |
| 72 | GNOMAD | ss2748007794 | Nov 08, 2017 (151) |
| 73 | GNOMAD | ss2864093419 | Nov 08, 2017 (151) |
| 74 | AFFY | ss2985433067 | Nov 08, 2017 (151) |
| 75 | AFFY | ss2986076219 | Nov 08, 2017 (151) |
| 76 | SWEGEN | ss3002804512 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss3022826115 | Nov 08, 2017 (151) |
| 78 | BIOINF_KMB_FNS_UNIBA | ss3026281130 | Nov 08, 2017 (151) |
| 79 | CSHL | ss3348082059 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3625947311 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3630013668 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3630013669 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3632621006 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3635162189 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3640869479 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3644964726 | Oct 12, 2018 (152) |
| 87 | OMUKHERJEE_ADBS | ss3646373026 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3653367072 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3653367073 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3654194881 | Oct 12, 2018 (152) |
| 91 | EGCUT_WGS | ss3670484557 | Jul 13, 2019 (153) |
| 92 | EVA_DECODE | ss3721555547 | Jul 13, 2019 (153) |
| 93 | ILLUMINA | ss3726520386 | Jul 13, 2019 (153) |
| 94 | ACPOP | ss3735467091 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3744577761 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3745461972 | Jul 13, 2019 (153) |
| 97 | EVA | ss3767717822 | Jul 13, 2019 (153) |
| 98 | PAGE_CC | ss3771428713 | Jul 13, 2019 (153) |
| 99 | ILLUMINA | ss3772954565 | Jul 13, 2019 (153) |
| 100 | PACBIO | ss3786087390 | Jul 13, 2019 (153) |
| 101 | PACBIO | ss3791353795 | Jul 13, 2019 (153) |
| 102 | PACBIO | ss3796234962 | Jul 13, 2019 (153) |
| 103 | KHV_HUMAN_GENOMES | ss3810881303 | Jul 13, 2019 (153) |
| 104 | EVA | ss3824351444 | Apr 26, 2020 (154) |
| 105 | EVA | ss3825737083 | Apr 26, 2020 (154) |
| 106 | EVA | ss3831054947 | Apr 26, 2020 (154) |
| 107 | SGDP_PRJ | ss3869436814 | Apr 26, 2020 (154) |
| 108 | KRGDB | ss3916862660 | Apr 26, 2020 (154) |
| 109 | FSA-LAB | ss3984393709 | Apr 27, 2021 (155) |
| 110 | FSA-LAB | ss3984393710 | Apr 27, 2021 (155) |
| 111 | EVA | ss3984602267 | Apr 27, 2021 (155) |
| 112 | EVA | ss3985347121 | Apr 27, 2021 (155) |
| 113 | EVA | ss3986043083 | Apr 27, 2021 (155) |
| 114 | EVA | ss3986415493 | Apr 27, 2021 (155) |
| 115 | TOPMED | ss4778094745 | Apr 27, 2021 (155) |
| 116 | TOMMO_GENOMICS | ss5187654658 | Apr 27, 2021 (155) |
| 117 | EVA | ss5237041074 | Apr 27, 2021 (155) |
| 118 | EVA | ss5237651003 | Oct 14, 2022 (156) |
| 119 | 1000G_HIGH_COVERAGE | ss5276330352 | Oct 14, 2022 (156) |
| 120 | TRAN_CS_UWATERLOO | ss5314422740 | Oct 14, 2022 (156) |
| 121 | EVA | ss5315316846 | Oct 14, 2022 (156) |
| 122 | EVA | ss5379642514 | Oct 14, 2022 (156) |
| 123 | HUGCELL_USP | ss5472980963 | Oct 14, 2022 (156) |
| 124 | EVA | ss5509275494 | Oct 14, 2022 (156) |
| 125 | 1000G_HIGH_COVERAGE | ss5566254304 | Oct 14, 2022 (156) |
| 126 | EVA | ss5624176086 | Oct 14, 2022 (156) |
| 127 | SANFORD_IMAGENETICS | ss5624688001 | Oct 14, 2022 (156) |
| 128 | SANFORD_IMAGENETICS | ss5644923959 | Oct 14, 2022 (156) |
| 129 | TOMMO_GENOMICS | ss5729271317 | Oct 14, 2022 (156) |
| 130 | EVA | ss5800059211 | Oct 14, 2022 (156) |
| 131 | YY_MCH | ss5809516786 | Oct 14, 2022 (156) |
| 132 | EVA | ss5830224537 | Oct 14, 2022 (156) |
| 133 | EVA | ss5848169569 | Oct 14, 2022 (156) |
| 134 | EVA | ss5848702272 | Oct 14, 2022 (156) |
| 135 | EVA | ss5856287116 | Oct 14, 2022 (156) |
| 136 | EVA | ss5888021724 | Oct 14, 2022 (156) |
| 137 | EVA | ss5974104460 | Oct 14, 2022 (156) |
| 138 | 1000Genomes | NC_000008.10 - 19819724 | Oct 12, 2018 (152) |
| 139 | 1000Genomes_30x | NC_000008.11 - 19962213 | Oct 14, 2022 (156) |
| 140 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 19819724 | Oct 12, 2018 (152) |
| 141 | Genome-wide autozygosity in Daghestan | NC_000008.9 - 19864004 | Apr 26, 2020 (154) |
| 142 | Genetic variation in the Estonian population | NC_000008.10 - 19819724 | Oct 12, 2018 (152) |
| 143 | ExAC | NC_000008.10 - 19819724 | Oct 12, 2018 (152) |
| 144 | FINRISK | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 145 | The Danish reference pan genome | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 146 | gnomAD - Genomes | NC_000008.11 - 19962213 | Apr 27, 2021 (155) |
| 147 | gnomAD - Exomes | NC_000008.10 - 19819724 | Jul 13, 2019 (153) |
| 148 | Genome of the Netherlands Release 5 | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 149 | HapMap | NC_000008.11 - 19962213 | Apr 26, 2020 (154) |
| 150 | KOREAN population from KRGDB | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 151 | Medical Genome Project healthy controls from Spanish population | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 152 | Northern Sweden | NC_000008.10 - 19819724 | Jul 13, 2019 (153) |
| 153 | The PAGE Study | NC_000008.11 - 19962213 | Jul 13, 2019 (153) |
| 154 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000008.10 - 19819724 | Apr 27, 2021 (155) |
| 155 | CNV burdens in cranial meningiomas | NC_000008.10 - 19819724 | Apr 27, 2021 (155) |
| 156 | Qatari | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 157 | SGDP_PRJ | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 158 | Siberian | NC_000008.10 - 19819724 | Apr 26, 2020 (154) |
| 159 | 8.3KJPN | NC_000008.10 - 19819724 | Apr 27, 2021 (155) |
| 160 | 14KJPN | NC_000008.11 - 19962213 | Oct 14, 2022 (156) |
| 161 | TopMed | NC_000008.11 - 19962213 | Apr 27, 2021 (155) |
| 162 | UK 10K study - Twins | NC_000008.10 - 19819724 | Oct 12, 2018 (152) |
| 163 | A Vietnamese Genetic Variation Database | NC_000008.10 - 19819724 | Jul 13, 2019 (153) |
| 164 | ALFA | NC_000008.11 - 19962213 | Apr 27, 2021 (155) |
| 165 | ClinVar | RCV000001598.2 | Oct 12, 2018 (152) |
| 166 | ClinVar | RCV000385586.3 | Oct 14, 2022 (156) |
| 167 | ClinVar | RCV000978630.3 | Oct 14, 2022 (156) |
| 168 | ClinVar | RCV001511819.3 | Oct 14, 2022 (156) |
| 169 | ClinVar | RCV001804709.1 | Oct 14, 2022 (156) |
Help
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) |
|---|---|
| rs3735962 | Oct 08, 2002 (108) |
| rs17482566 | Oct 08, 2004 (123) |
| rs52834251 | Sep 21, 2007 (128) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| RCV000978630.3 | NC_000008.11:19962212:C:A | NC_000008.11:19962212:C:A | (self) |
| 494106, ss198888197, ss217321427, ss217397633, ss217399174, ss217407233, ss217418296, ss217419027, ss217422429, ss244294501, ss254171515, ss279724045, ss410878568, ss485584695, ss491921994, ss1397520212, ss1594862344, ss2094987020 | NC_000008.9:19864003:C:G | NC_000008.11:19962212:C:G | (self) |
| 41010104, 22797219, 16222805, 9205345, 53811, 8758726, 6191011, 10186996, 24040054, 310477, 8751956, 573048, 151703, 10604370, 21453794, 5718406, 45623965, 22797219, 5083504, ss223585670, ss234352504, ss241227319, ss342253806, ss484193264, ss490960926, ss491410902, ss536381272, ss655035593, ss779528090, ss780867941, ss782542564, ss783552875, ss834998628, ss985272683, ss1067495952, ss1075340057, ss1328915353, ss1582593788, ss1584057350, ss1620133815, ss1663127848, ss1689111743, ss1711194717, ss1752723251, ss1917826331, ss1928562440, ss1946231552, ss1959093919, ss2024980591, ss2095209247, ss2153202052, ss2634720469, ss2634720470, ss2634720471, ss2708962560, ss2737022600, ss2748007794, ss2864093419, ss2985433067, ss2986076219, ss3002804512, ss3022826115, ss3348082059, ss3625947311, ss3630013668, ss3630013669, ss3632621006, ss3635162189, ss3640869479, ss3644964726, ss3646373026, ss3653367072, ss3653367073, ss3654194881, ss3670484557, ss3735467091, ss3744577761, ss3745461972, ss3767717822, ss3772954565, ss3786087390, ss3791353795, ss3796234962, ss3824351444, ss3825737083, ss3831054947, ss3869436814, ss3916862660, ss3984393709, ss3984393710, ss3984602267, ss3985347121, ss3986043083, ss3986415493, ss5187654658, ss5315316846, ss5379642514, ss5509275494, ss5624176086, ss5624688001, ss5644923959, ss5800059211, ss5830224537, ss5848169569, ss5848702272, ss5974104460 | NC_000008.10:19819723:C:G | NC_000008.11:19962212:C:G | (self) |
| RCV000001598.2, RCV000385586.3, RCV001511819.3, RCV001804709.1, 53780239, 289196351, 3581010, 650182, 63108421, 615472305, 12326390191, ss244238714, ss252841585, ss2301288406, ss3026281130, ss3721555547, ss3726520386, ss3771428713, ss3810881303, ss4778094745, ss5237041074, ss5237651003, ss5276330352, ss5314422740, ss5472980963, ss5566254304, ss5729271317, ss5809516786, ss5856287116, ss5888021724 | NC_000008.11:19962212:C:G | NC_000008.11:19962212:C:G | (self) |
| ss10467174 | NT_030737.7:3540947:C:G | NC_000008.11:19962212:C:G | (self) |
| ss329, ss3173350, ss4921960, ss16343000, ss24648907, ss48420139, ss69043156, ss71648660, ss74808885, ss181341878, ss181834342, ss181835906, ss182258758 | NT_167187.1:7677869:C:G | NC_000008.11:19962212:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
128
citations for rs328
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 1731801 | A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia. | Kobayashi J et al. | 1992 | Biochemical and biophysical research communications |
| 1907278 | Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. | Faustinella F et al. | 1991 | The Journal of biological chemistry |
| 2216713 | Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. | Hata A et al. | 1990 | Nucleic acids research |
| 16642433 | Polymorphism in maternal LRP8 gene is associated with fetal growth. | Wang L et al. | 2006 | American journal of human genetics |
| 16700901 | Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction. | Ruaño G et al. | 2006 | Nutrition & metabolism |
| 17157861 | Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults. | Nettleton JA et al. | 2007 | Atherosclerosis |
| 17291198 | The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease. | Talmud PJ et al. | 2007 | Clinical science (London, England |
| 17903299 | A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. | Kathiresan S et al. | 2007 | BMC medical genetics |
| 18193044 | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. | Kathiresan S et al. | 2008 | Nature genetics |
| 18275964 | Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study. | Chamberlain AM et al. | 2008 | Atherosclerosis |
| 18280754 | Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions. | Reiman EM et al. | 2008 | NeuroImage |
| 18513389 | New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. | Penco S et al. | 2008 | BMC bioinformatics |
| 18596051 | Polygenic determinants of severe hypertriglyceridemia. | Wang J et al. | 2008 | Human molecular genetics |
| 18660489 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | Lu Y et al. | 2008 | Journal of lipid research |
| 18678614 | Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. | Orho-Melander M et al. | 2008 | Diabetes |
| 18922999 | Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis. | Sagoo GS et al. | 2008 | American journal of epidemiology |
| 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 |
| 19060910 | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. | Sabatti C et al. | 2009 | Nature genetics |
| 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 |
| 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 |
| 19197348 | Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. | Lowe JK et al. | 2009 | PLoS genetics |
| 19200524 | A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. | Yngvadottir B et al. | 2009 | American journal of human genetics |
| 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 |
| 19299407 | Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. | Lanktree MB et al. | 2009 | Journal of lipid research |
| 19336475 | Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. | Drenos F et al. | 2009 | Human molecular genetics |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19408013 | Strategies and issues in the detection of pathway enrichment in genome-wide association studies. | Hong MG et al. | 2009 | Human genetics |
| 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 |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19489872 | Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women. | Lamon-Fava S et al. | 2010 | Clinical endocrinology |
| 19501493 | A composite scoring of genotypes discriminates coronary heart disease risk beyond conventional risk factors in the Boston Puerto Rican Health Study. | Junyent M et al. | 2010 | Nutrition, metabolism, and cardiovascular diseases |
| 19557453 | beta-Carotene conversion products and their effects on adipose tissue. | Tourniaire F et al. | 2009 | Genes & nutrition |
| 19602472 | Lipid and endothelium-related genes, ambient particulate matter, and heart rate variability--the VA Normative Aging Study. | Ren C et al. | 2010 | Journal of epidemiology and community health |
| 19729614 | Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. | Musunuru K et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
| 19736300 | Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. | Mori M et al. | 2009 | The Journal of physiology |
| 19773416 | A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women. | Hamrefors V et al. | 2010 | Journal of lipid research |
| 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 |
| 19878569 | Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. | Chen SN et al. | 2009 | BMC medical genetics |
| 19884647 | Air pollution, obesity, genes and cellular adhesion molecules. | Madrigano J et al. | 2010 | Occupational and environmental medicine |
| 19951432 | Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. | Ronald J et al. | 2009 | Lipids in health and disease |
| 20018036 | Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes. | Hamid JS et al. | 2009 | BMC proceedings |
| 20018039 | Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study. | Waaijenborg S et al. | 2009 | BMC proceedings |
| 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 |
| 20150529 | Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study. | Tang W et al. | 2010 | Circulation. Cardiovascular genetics |
| 20400780 | Candidate gene association resource (CARe): design, methods, and proof of concept. | Musunuru K et al. | 2010 | Circulation. Cardiovascular genetics |
| 20410100 | Genetic variation in APOJ, LPL, and TNFRSF10B affects plasma fatty acid distribution in Alaskan Eskimos. | Voruganti VS et al. | 2010 | The American journal of clinical nutrition |
| 20421590 | Genetic causes of high and low serum HDL-cholesterol. | Weissglas-Volkov D et al. | 2010 | Journal of lipid research |
| 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 |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20650961 | Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar. | Smith AJ et al. | 2010 | Human molecular genetics |
| 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 |
| 21316679 | Associations between common genetic polymorphisms in the liver X receptor alpha and its target genes with the serum HDL-cholesterol concentration in adolescents of the HELENA Study. | Legry V et al. | 2011 | Atherosclerosis |
| 21407270 | Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. | Janssens AC et al. | 2011 | European journal of human genetics |
| 21424820 | Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. | Janssens AC et al. | 2011 | European journal of epidemiology |
| 21466885 | Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent. | Shirts BH et al. | 2011 | Atherosclerosis |
| 21738485 | Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study. | Dumitrescu L et al. | 2011 | PLoS genetics |
| 21767357 | Genetic variants in lipid metabolism are independently associated with multiple features of the metabolic syndrome. | Povel CM et al. | 2011 | Lipids in health and disease |
| 21777205 | Evidence for age as a modifier of genetic associations for lipid levels. | Dumitrescu L et al. | 2011 | Annals of human genetics |
| 21840003 | Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism. | Garcia-Rios A et al. | 2011 | Atherosclerosis |
| 21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
| 21995669 | A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. | Richardson K et al. | 2011 | BMC genomics |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22171074 | A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. | Tan A et al. | 2012 | Human molecular genetics |
| 22239554 | Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. | Surendran RP et al. | 2012 | Journal of internal medicine |
| 22318170 | A Hybrid Bayesian Network/Structural Equation (BN/SEM) Modeling Approach for Detecting Physiological Networks for Obesity-related Genetic Variants. | Duarte CW et al. | 2011 | Proceedings. IEEE International Conference on Bioinformatics and Biomedicine |
| 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 |
| 22425169 | Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. | Shirts BH et al. | 2012 | Atherosclerosis |
| 22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ et al. | 2012 | PloS one |
| 23101478 | Single nucleotide polymorphisms (SNPs) involved in insulin resistance, weight regulation, lipid metabolism and inflammation in relation to metabolic syndrome: an epidemiological study. | Povel CM et al. | 2012 | Cardiovascular diabetology |
| 23105935 | Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study. | Pyun JA et al. | 2012 | Genomics & informatics |
| 23236364 | Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. | Elbers CC et al. | 2012 | PloS one |
| 23497168 | Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. | Rudkowska I et al. | 2013 | Nutrition & metabolism |
| 24319689 | The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism. | de Almeida ER et al. | 2013 | BioMed research international |
| 24491308 | Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men. | Cartwright R et al. | 2014 | European urology |
| 24886709 | Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. | Ko A et al. | 2014 | Nature communications |
| 24959828 | Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population. | Yang J et al. | 2014 | PloS one |
| 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 |
| 25205864 | Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. | Restrepo NA et al. | 2014 | Investigative ophthalmology & visual science |
| 25361584 | Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population. | Frikke-Schmidt R et al. | 2015 | International journal of epidemiology |
| 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 |
| 25579610 | The lipoprotein lipase S447X and cholesteryl ester transfer protein rs5882 polymorphisms and their relationship with lipid profile in human serum of obese individuals. | Emamian M et al. | 2015 | Gene |
| 25587205 | Association of polymorphisms of genes involved in lipid metabolism with blood pressure and lipid values in mexican hypertensive individuals. | Ríos-González BE et al. | 2014 | Disease markers |
| 25626708 | Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels. | Pirim D et al. | 2015 | European journal of human genetics |
| 25671407 | A systems genetics approach to dyslipidemia in children and adolescents. | White MJ et al. | 2015 | Omics |
| 25788903 | Network-based analysis of the sphingolipid metabolism in hypertension. | Fenger M et al. | 2015 | Frontiers in genetics |
| 25864161 | Ethnic differences in the association between lipid metabolism genes and lipid levels in black and white South African women. | Ellman N et al. | 2015 | Atherosclerosis |
| 26101956 | Polymorphisms in LPL, CETP, and HL protect HIV-infected patients from atherogenic dyslipidemia in an allele-dose-dependent manner. | Guardiola M et al. | 2015 | AIDS research and human retroviruses |
| 26370976 | Polymorphisms in the LPL and CETP Genes and Haplotype in the ESR1 Gene Are Associated with Metabolic Syndrome in Women from Southwestern Mexico. | Cahua-Pablo JÁ et al. | 2015 | International journal of molecular sciences |
| 26446360 | Mendelian randomization studies of biomarkers and type 2 diabetes. | Abbasi A et al. | 2015 | Endocrine connections |
| 26483159 | RETRACTED: Association between peroxisome proliferator-activated receptor, UCP3 and lipoprotein lipase gene polymorphisms and obesity in Chinese adolescents. | Zou Z et al. | 2017 | Obesity research & clinical practice |
| 26786614 | Interaction of lipoprotein lipase polymorphisms with body mass index and birth weight to modulate lipid profiles in children and adolescents: the CASPIAN-III Study. | Askari G et al. | 2016 | Sao Paulo medical journal = Revista paulista de medicina |
| 26791477 | The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study. | Do AN et al. | 2016 | Journal of human hypertension |
| 26820803 | Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter. | Caussy C et al. | 2016 | Atherosclerosis |
| 26971241 | Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans. | Larifla L et al. | 2016 | The Canadian journal of cardiology |
| 26975783 | Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease. | Ren L et al. | 2016 | Neuroscience letters |
| 26999119 | Impact of Lipoprotein Lipase Gene Polymorphism, S447X, on Postprandial Triacylglycerol and Glucose Response to Sequential Meal Ingestion. | Shatwan IM et al. | 2016 | International journal of molecular sciences |
| 27277665 | Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. | Zholdybayeva EV et al. | 2016 | Human genomics |
| 27386434 | Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome. | Mirhafez SR et al. | 2016 | International journal of molecular and cellular medicine |
| 27535653 | eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. | Verma A et al. | 2016 | BMC medical genomics |
| 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 |
| 28115978 | High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population. | Ayyappa KA et al. | 2017 | Nutrition & metabolism |
| 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 |
| 28293042 | Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study. | Velásquez Pereira LC et al. | 2016 | Colombia medica (Cali, Colombia) |
| 28577571 | Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. | Paththinige CS 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 |
| 28639428 | Relationship between pancreatic intraepithelial neoplasias, pancreatic ductal adenocarcinomas, and single nucleotide polymorphisms in autopsied elderly patients. | Matsuda Y et al. | 2018 | Genes, chromosomes & cancer |
| 28685248 | Genetic risk factors for myocardial infarction more clearly manifest for early age of first onset. | Titov BV et al. | 2017 | Molecular biology reports |
| 28705542 | Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. | Ansari WM et al. | 2019 | Cytokine |
| 29303622 | Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. | Kamble PG et al. | 2017 | Upsala journal of medical sciences |
| 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 |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
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.