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.
rs320
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:19961566 (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
- T>A / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.283815 (75123/264690, TOPMED)G=0.26949 (21207/78694, PAGE_STUDY)G=0.19471 (5502/28258, 14KJPN) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- LPL : Intron Variant
- Publications
- 32 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 | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 23032 | T=0.79706 | A=0.00000, G=0.20294 | 0.64875 | 0.05462 | 0.296631 | 32 |
| European | Sub | 17028 | T=0.79158 | A=0.00000, G=0.20842 | 0.638948 | 0.05579 | 0.305262 | 26 |
| African | Sub | 4492 | T=0.7898 | A=0.0000, G=0.2102 | 0.638914 | 0.059216 | 0.30187 | 10 |
| African Others | Sub | 136 | T=0.779 | A=0.000, G=0.221 | 0.617647 | 0.058824 | 0.323529 | 0 |
| African American | Sub | 4356 | T=0.7902 | A=0.0000, G=0.2098 | 0.639578 | 0.059229 | 0.301194 | 10 |
| Asian | Sub | 90 | T=0.92 | A=0.00, G=0.08 | 0.844444 | 0.0 | 0.155556 | 0 |
| East Asian | Sub | 74 | T=0.91 | A=0.00, G=0.09 | 0.810811 | 0.0 | 0.189189 | 0 |
| Other Asian | Sub | 16 | T=1.00 | A=0.00, G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 84 | T=1.00 | A=0.00, G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 364 | T=1.000 | A=0.000, G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 74 | T=0.93 | A=0.00, G=0.07 | 0.891892 | 0.027027 | 0.081081 | 3 |
| Other | Sub | 900 | T=0.812 | A=0.000, G=0.188 | 0.668889 | 0.044444 | 0.286667 | 1 |
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=0.716185 | G=0.283815 |
| The PAGE Study | Global | Study-wide | 78694 | T=0.73051 | G=0.26949 |
| The PAGE Study | AfricanAmerican | Sub | 32508 | T=0.68008 | G=0.31992 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.76244 | G=0.23756 |
| The PAGE Study | Asian | Sub | 8318 | T=0.8128 | G=0.1872 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.7393 | G=0.2607 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.8273 | G=0.1727 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.7083 | G=0.2917 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.7281 | G=0.2719 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.7641 | G=0.2359 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.7593 | G=0.2407 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.7540 | G=0.2460 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.772 | G=0.228 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.80529 | G=0.19471 |
| Allele Frequency Aggregator | Total | Global | 22938 | T=0.79785 | A=0.00000, G=0.20215 |
| Allele Frequency Aggregator | European | Sub | 16952 | T=0.79253 | A=0.00000, G=0.20747 |
| Allele Frequency Aggregator | African | Sub | 4492 | T=0.7898 | A=0.0000, G=0.2102 |
| Allele Frequency Aggregator | Other | Sub | 882 | T=0.814 | A=0.000, G=0.186 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 364 | T=1.000 | A=0.000, G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 90 | T=0.92 | A=0.00, G=0.08 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 84 | T=1.00 | A=0.00, G=0.00 |
| Allele Frequency Aggregator | South Asian | Sub | 74 | T=0.93 | A=0.00, G=0.07 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.7330 | G=0.2670 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.6870 | G=0.3130 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.6983 | G=0.3017 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.7945 | G=0.2055 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.7632 | G=0.2368 |
| 1000Genomes_30x | American | Sub | 980 | T=0.750 | G=0.250 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.7384 | G=0.2616 |
| 1000Genomes | African | Sub | 1322 | T=0.6868 | G=0.3132 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.7659 | G=0.2341 |
| 1000Genomes | Europe | Sub | 1006 | T=0.7127 | G=0.2873 |
| 1000Genomes | South Asian | Sub | 978 | T=0.793 | G=0.207 |
| 1000Genomes | American | Sub | 694 | T=0.756 | G=0.244 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.7357 | G=0.2643 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.7234 | G=0.2766 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.7306 | G=0.2694 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.7911 | G=0.2089 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.7980 | G=0.2020 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | T=0.7147 | G=0.2853 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | T=0.701 | G=0.299 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | T=0.736 | G=0.264 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | T=0.779 | G=0.221 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | T=0.694 | G=0.306 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 96 | T=0.69 | G=0.31 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | T=0.78 | G=0.22 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.722 | G=0.278 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | T=0.824 | G=0.176 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | T=0.824 | G=0.176 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.748 | G=0.252 |
| SGDP_PRJ | Global | Study-wide | 238 | T=0.408 | G=0.592 |
| Qatari | Global | Study-wide | 216 | T=0.699 | G=0.301 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.818 | G=0.182 |
| HapMap | Global | Study-wide | 206 | T=0.752 | G=0.248 |
| HapMap | African | Sub | 106 | T=0.774 | G=0.226 |
| HapMap | American | Sub | 100 | T=0.73 | G=0.27 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.78 | G=0.23 |
| Siberian | Global | Study-wide | 22 | T=0.50 | G=0.50 |
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.p14 chr 8 | NC_000008.11:g.19961566T>A |
| GRCh38.p14 chr 8 | NC_000008.11:g.19961566T>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819077T>A |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819077T>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.64850T>A |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.64850T>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LPL transcript | NM_000237.3:c.1322+483T>A | N/A | Intron 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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001513263.3 | not provided | Benign |
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 | G |
|---|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.19961566= | NC_000008.11:g.19961566T>A | NC_000008.11:g.19961566T>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19819077= | NC_000008.10:g.19819077T>A | NC_000008.10:g.19819077T>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.64850= | NG_008855.2:g.64850T>A | NG_008855.2:g.64850T>G |
| LPL transcript | NM_000237.2:c.1322+483= | NM_000237.2:c.1322+483T>A | NM_000237.2:c.1322+483T>G |
| LPL transcript | NM_000237.3:c.1322+483= | NM_000237.3:c.1322+483T>A | NM_000237.3:c.1322+483T>G |
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 | DEBNICK | ss321 | Sep 19, 2000 (36) |
| 2 | SC_JCM | ss3630506 | Sep 28, 2001 (100) |
| 3 | WI_SSAHASNP | ss11925875 | Jul 11, 2003 (116) |
| 4 | CSHL-HAPMAP | ss19769802 | Feb 27, 2004 (120) |
| 5 | ABI | ss44866427 | Mar 14, 2006 (126) |
| 6 | HGSV | ss78877638 | Dec 05, 2007 (129) |
| 7 | BCMHGSC_JDW | ss93851530 | Mar 25, 2008 (129) |
| 8 | HUMANGENOME_JCVI | ss98056384 | Feb 04, 2009 (130) |
| 9 | BGI | ss104512526 | Dec 01, 2009 (131) |
| 10 | ILLUMINA-UK | ss115864243 | Feb 14, 2009 (130) |
| 11 | ENSEMBL | ss134460718 | Dec 01, 2009 (131) |
| 12 | ENSEMBL | ss143320852 | Dec 01, 2009 (131) |
| 13 | BCM-HGSC-SUB | ss208649775 | Jul 04, 2010 (132) |
| 14 | 1000GENOMES | ss223585664 | Jul 14, 2010 (132) |
| 15 | 1000GENOMES | ss234352498 | Jul 15, 2010 (132) |
| 16 | 1000GENOMES | ss241227314 | Jul 15, 2010 (132) |
| 17 | ILLUMINA | ss244294073 | Jul 04, 2010 (132) |
| 18 | BL | ss254171490 | May 09, 2011 (134) |
| 19 | GMI | ss279724040 | May 04, 2012 (137) |
| 20 | PJP | ss294234341 | May 09, 2011 (134) |
| 21 | ILLUMINA | ss410878562 | Sep 17, 2011 (135) |
| 22 | TISHKOFF | ss560600152 | Apr 25, 2013 (138) |
| 23 | SSMP | ss655035584 | Apr 25, 2013 (138) |
| 24 | EVA-GONL | ss985272676 | Aug 21, 2014 (142) |
| 25 | JMKIDD_LAB | ss1075340051 | Aug 21, 2014 (142) |
| 26 | 1000GENOMES | ss1328915334 | Aug 21, 2014 (142) |
| 27 | HAMMER_LAB | ss1397520208 | Sep 08, 2015 (146) |
| 28 | DDI | ss1431441596 | Apr 01, 2015 (144) |
| 29 | EVA_GENOME_DK | ss1582593782 | Apr 01, 2015 (144) |
| 30 | EVA_DECODE | ss1594862339 | Apr 01, 2015 (144) |
| 31 | EVA_UK10K_ALSPAC | ss1620133803 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_TWINSUK | ss1663127836 | Apr 01, 2015 (144) |
| 33 | HAMMER_LAB | ss1805432811 | Sep 08, 2015 (146) |
| 34 | WEILL_CORNELL_DGM | ss1928562432 | Feb 12, 2016 (147) |
| 35 | ILLUMINA | ss1959093908 | Feb 12, 2016 (147) |
| 36 | GENOMED | ss1970929951 | Jul 19, 2016 (147) |
| 37 | JJLAB | ss2024980585 | Sep 14, 2016 (149) |
| 38 | USC_VALOUEV | ss2153202045 | Dec 20, 2016 (150) |
| 39 | HUMAN_LONGEVITY | ss2301288358 | Dec 20, 2016 (150) |
| 40 | SYSTEMSBIOZJU | ss2626975170 | Nov 08, 2017 (151) |
| 41 | GRF | ss2708962554 | Nov 08, 2017 (151) |
| 42 | GNOMAD | ss2864093359 | Nov 08, 2017 (151) |
| 43 | AFFY | ss2985433060 | Nov 08, 2017 (151) |
| 44 | AFFY | ss2986076211 | Nov 08, 2017 (151) |
| 45 | SWEGEN | ss3002804501 | Nov 08, 2017 (151) |
| 46 | SWEGEN | ss3002804502 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss3022826104 | Nov 08, 2017 (151) |
| 48 | BIOINF_KMB_FNS_UNIBA | ss3026281125 | Nov 08, 2017 (151) |
| 49 | CSHL | ss3348082054 | Nov 08, 2017 (151) |
| 50 | URBANLAB | ss3648868477 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3653367060 | Oct 12, 2018 (152) |
| 52 | ILLUMINA | ss3654194874 | Oct 12, 2018 (152) |
| 53 | EGCUT_WGS | ss3670484548 | Jul 13, 2019 (153) |
| 54 | EVA_DECODE | ss3721555540 | Jul 13, 2019 (153) |
| 55 | ILLUMINA | ss3726520377 | Jul 13, 2019 (153) |
| 56 | ACPOP | ss3735467085 | Jul 13, 2019 (153) |
| 57 | EVA | ss3767717814 | Jul 13, 2019 (153) |
| 58 | PAGE_CC | ss3771428704 | Jul 13, 2019 (153) |
| 59 | PACBIO | ss3786087385 | Jul 13, 2019 (153) |
| 60 | PACBIO | ss3791353790 | Jul 13, 2019 (153) |
| 61 | PACBIO | ss3796234957 | Jul 13, 2019 (153) |
| 62 | KHV_HUMAN_GENOMES | ss3810881293 | Jul 13, 2019 (153) |
| 63 | EVA | ss3831054941 | Apr 26, 2020 (154) |
| 64 | EVA | ss3839037605 | Apr 26, 2020 (154) |
| 65 | EVA | ss3844495629 | Apr 26, 2020 (154) |
| 66 | SGDP_PRJ | ss3869436802 | Apr 26, 2020 (154) |
| 67 | KRGDB | ss3916862643 | Apr 26, 2020 (154) |
| 68 | KOGIC | ss3963402270 | Apr 26, 2020 (154) |
| 69 | EVA | ss3984602263 | Apr 27, 2021 (155) |
| 70 | TOPMED | ss4778094565 | Apr 27, 2021 (155) |
| 71 | TOMMO_GENOMICS | ss5187654632 | Apr 27, 2021 (155) |
| 72 | TOMMO_GENOMICS | ss5187654633 | Apr 27, 2021 (155) |
| 73 | EVA | ss5237438120 | Apr 27, 2021 (155) |
| 74 | 1000G_HIGH_COVERAGE | ss5276330336 | Oct 14, 2022 (156) |
| 75 | EVA | ss5379642486 | Oct 14, 2022 (156) |
| 76 | HUGCELL_USP | ss5472980942 | Oct 14, 2022 (156) |
| 77 | EVA | ss5509275488 | Oct 14, 2022 (156) |
| 78 | 1000G_HIGH_COVERAGE | ss5566254284 | Oct 14, 2022 (156) |
| 79 | SANFORD_IMAGENETICS | ss5624687997 | Oct 14, 2022 (156) |
| 80 | SANFORD_IMAGENETICS | ss5644923948 | Oct 14, 2022 (156) |
| 81 | TOMMO_GENOMICS | ss5729271286 | Oct 14, 2022 (156) |
| 82 | YY_MCH | ss5809516778 | Oct 14, 2022 (156) |
| 83 | EVA | ss5830224530 | Oct 14, 2022 (156) |
| 84 | EVA | ss5848169561 | Oct 14, 2022 (156) |
| 85 | EVA | ss5856287109 | Oct 14, 2022 (156) |
| 86 | EVA | ss5888021706 | Oct 14, 2022 (156) |
| 87 | EVA | ss5974104445 | Oct 14, 2022 (156) |
| 88 | EVA | ss5979856497 | Oct 14, 2022 (156) |
| 89 | 1000Genomes | NC_000008.10 - 19819077 | Oct 12, 2018 (152) |
| 90 | 1000Genomes_30x | NC_000008.11 - 19961566 | Oct 14, 2022 (156) |
| 91 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 19819077 | Oct 12, 2018 (152) |
| 92 | Genome-wide autozygosity in Daghestan | NC_000008.9 - 19863357 | Apr 26, 2020 (154) |
| 93 | Genetic variation in the Estonian population | NC_000008.10 - 19819077 | Oct 12, 2018 (152) |
| 94 | The Danish reference pan genome | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 95 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 96 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 97 | Genome of the Netherlands Release 5 | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 98 | HapMap | NC_000008.11 - 19961566 | Apr 26, 2020 (154) |
| 99 | KOREAN population from KRGDB | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 100 | Korean Genome Project | NC_000008.11 - 19961566 | Apr 26, 2020 (154) |
| 101 | Northern Sweden | NC_000008.10 - 19819077 | Jul 13, 2019 (153) |
| 102 | The PAGE Study | NC_000008.11 - 19961566 | Jul 13, 2019 (153) |
| 103 | CNV burdens in cranial meningiomas | NC_000008.10 - 19819077 | Apr 27, 2021 (155) |
| 104 | Qatari | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 105 | SGDP_PRJ | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 106 | Siberian | NC_000008.10 - 19819077 | Apr 26, 2020 (154) |
| 107 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 108 |
8.3KJPN
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 109 | 14KJPN | NC_000008.11 - 19961566 | Oct 14, 2022 (156) |
| 110 | TopMed | NC_000008.11 - 19961566 | Apr 27, 2021 (155) |
| 111 | UK 10K study - Twins | NC_000008.10 - 19819077 | Oct 12, 2018 (152) |
| 112 | A Vietnamese Genetic Variation Database | NC_000008.10 - 19819077 | Jul 13, 2019 (153) |
| 113 | ALFA | NC_000008.11 - 19961566 | Apr 27, 2021 (155) |
| 114 | ClinVar | RCV001513263.3 | Oct 14, 2022 (156) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3002804502, ss5187654633 | NC_000008.10:19819076:T:A | NC_000008.11:19961565:T:A | (self) |
| 7505334099 | NC_000008.11:19961565:T:A | NC_000008.11:19961565:T:A | (self) |
| 494102, ss78877638, ss93851530, ss115864243, ss208649775, ss244294073, ss254171490, ss279724040, ss294234341, ss410878562, ss1397520208, ss1594862339 | NC_000008.9:19863356:T:G | NC_000008.11:19961565:T:G | (self) |
| 41010085, 22797207, 16222796, 8758720, 10186989, 24040037, 8751950, 151699, 10604362, 21453782, 5718399, 22797207, 5083500, ss223585664, ss234352498, ss241227314, ss560600152, ss655035584, ss985272676, ss1075340051, ss1328915334, ss1431441596, ss1582593782, ss1620133803, ss1663127836, ss1805432811, ss1928562432, ss1959093908, ss1970929951, ss2024980585, ss2153202045, ss2626975170, ss2708962554, ss2864093359, ss2985433060, ss2986076211, ss3002804501, ss3022826104, ss3348082054, ss3653367060, ss3654194874, ss3670484548, ss3735467085, ss3767717814, ss3786087385, ss3791353790, ss3796234957, ss3831054941, ss3839037605, ss3869436802, ss3916862643, ss3984602263, ss5187654632, ss5237438120, ss5379642486, ss5509275488, ss5624687997, ss5644923948, ss5830224530, ss5848169561, ss5974104445, ss5979856497 | NC_000008.10:19819076:T:G | NC_000008.11:19961565:T:G | (self) |
| RCV001513263.3, 53780219, 3581006, 19780271, 650173, 63108390, 615472125, 7505334099, ss2301288358, ss3026281125, ss3648868477, ss3721555540, ss3726520377, ss3771428704, ss3810881293, ss3844495629, ss3963402270, ss4778094565, ss5276330336, ss5472980942, ss5566254284, ss5729271286, ss5809516778, ss5856287109, ss5888021706 | NC_000008.11:19961565:T:G | NC_000008.11:19961565:T:G | (self) |
| ss11925875 | NT_030737.7:3540300:T:G | NC_000008.11:19961565:T:G | (self) |
| ss19769802 | NT_030737.8:7629997:T:G | NC_000008.11:19961565:T:G | (self) |
| ss321, ss3630506, ss44866427, ss98056384, ss104512526, ss134460718, ss143320852 | NT_167187.1:7677222:T:G | NC_000008.11:19961565:T:G | (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 |
|---|---|---|---|---|
| 17721767 | Lipoprotein lipase HindIII polymorphism influences HDL-cholesterol levels in statin-treated patients with coronary artery disease. | Javorský M et al. | 2007 | Wiener klinische Wochenschrift |
| 18779388 | Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease. | Kavvoura FK et al. | 2008 | American journal of epidemiology |
| 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 |
| 19041386 | Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. | Boes E et al. | 2009 | Experimental gerontology |
| 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 |
| 20621252 | The genetics of vascular complications in diabetes mellitus. | Farbstein D et al. | 2010 | Cardiology clinics |
| 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 |
| 21149552 | Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies. | Kitsios GD et al. | 2011 | Circulation. Cardiovascular genetics |
| 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 |
| 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 |
| 25156894 | Lipoprotein lipase variants interact with polyunsaturated fatty acids for obesity traits in women: replication in two populations. | Ma Y et al. | 2014 | Nutrition, metabolism, and cardiovascular diseases |
| 25626708 | Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels. | Pirim D et al. | 2015 | European journal of human genetics |
| 25788903 | Network-based analysis of the sphingolipid metabolism in hypertension. | Fenger M et al. | 2015 | Frontiers in genetics |
| 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 |
| 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 |
| 27270932 | Association of the HindIII Lipoprotein Lipase Gene Polymorphism with the Development of the Non-Biliary Acute Pancreatitis: a Pilot Study. | Samgina TA et al. | 2016 | Bulletin of experimental biology and medicine |
| 27415775 | Gene Polymorphisms Affect the Effectiveness of Atorvastatin in Treating Ischemic Stroke Patients. | Yue YH et al. | 2016 | Cellular physiology and biochemistry |
| 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) |
| 28315561 | Polymorphisms of lipid metabolism enzyme-coding genes in patients with diabetic dyslipidemia. | Tetik Vardarlı A et al. | 2017 | Anatolian journal of cardiology |
| 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 |
| 29340220 | Multilocus Analysis of Genetic Susceptibility to Myocardial Infarction in Russians: Replication Study. | Kukava NG et al. | 2017 | Acta naturae |
| 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 |
| 30140409 | Lipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis. | Nejati M et al. | 2018 | Iranian journal of basic medical sciences |
| 30805016 | Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study. | Moghadasi M et al. | 2017 | International journal of endocrinology and metabolism |
| 31034941 | Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran. | Alinaghian N et al. | 2019 | Gene |
| 32333632 | Association between lipoprotein lipase gene polymorphisms and cardiovascular disease risk factors in European adolescents: The Healthy Lifestyle in Europe by Nutrition in Adolescence study. | Salazar-Tortosa DF et al. | 2020 | Pediatric diabetes |
| 32714026 | Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population. | Bogari NM et al. | 2020 | Saudi journal of biological sciences |
| 34336004 | Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity. | Bogari NM et al. | 2021 | Disease markers |
| 35259553 | Genetic determinants of intracranial large artery stenosis in the northern Manhattan study. | Liu M et al. | 2022 | Journal of the neurological sciences |
| 35387194 | Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review. | Pérez-Beltrán YE et al. | 2022 | Frontiers in nutrition |
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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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.