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.
rs268
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:19956018 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.011043 (2923/264690, TOPMED)G=0.012780 (3212/251336, GnomAD_exome)G=0.016273 (3560/218762, ALFA) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- LPL : Missense Variant
- Publications
- 29 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 | 235134 | A=0.983852 | G=0.016148 | 0.967976 | 0.000272 | 0.031752 | 0 |
| European | Sub | 197850 | A=0.982325 | G=0.017675 | 0.964953 | 0.000303 | 0.034743 | 0 |
| African | Sub | 10974 | A=0.99608 | G=0.00392 | 0.992163 | 0.0 | 0.007837 | 0 |
| African Others | Sub | 394 | A=0.997 | G=0.003 | 0.994924 | 0.0 | 0.005076 | 0 |
| African American | Sub | 10580 | A=0.99603 | G=0.00397 | 0.99206 | 0.0 | 0.00794 | 0 |
| Asian | Sub | 6406 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 4556 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 1850 | A=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 818 | A=0.989 | G=0.011 | 0.977995 | 0.0 | 0.022005 | 0 |
| Latin American 2 | Sub | 1028 | A=0.9893 | G=0.0107 | 0.978599 | 0.0 | 0.021401 | 0 |
| South Asian | Sub | 280 | A=0.993 | G=0.007 | 0.985714 | 0.0 | 0.014286 | 0 |
| Other | Sub | 17778 | A=0.98678 | G=0.01322 | 0.973788 | 0.000225 | 0.025987 | 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 | A=0.988957 | G=0.011043 |
| gnomAD - Exomes | Global | Study-wide | 251336 | A=0.987220 | G=0.012780 |
| gnomAD - Exomes | European | Sub | 135278 | A=0.980167 | G=0.019833 |
| gnomAD - Exomes | Asian | Sub | 49010 | A=0.99884 | G=0.00116 |
| gnomAD - Exomes | American | Sub | 34582 | A=0.99326 | G=0.00674 |
| gnomAD - Exomes | African | Sub | 16256 | A=0.99668 | G=0.00332 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | A=0.98938 | G=0.01062 |
| gnomAD - Exomes | Other | Sub | 6130 | A=0.9873 | G=0.0127 |
| Allele Frequency Aggregator | Total | Global | 218762 | A=0.983727 | G=0.016273 |
| Allele Frequency Aggregator | European | Sub | 187748 | A=0.982418 | G=0.017582 |
| Allele Frequency Aggregator | Other | Sub | 16346 | A=0.98721 | G=0.01279 |
| Allele Frequency Aggregator | Asian | Sub | 6406 | A=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 6136 | A=0.9954 | G=0.0046 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1028 | A=0.9893 | G=0.0107 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 818 | A=0.989 | G=0.011 |
| Allele Frequency Aggregator | South Asian | Sub | 280 | A=0.993 | G=0.007 |
| gnomAD - Genomes | Global | Study-wide | 140276 | A=0.986726 | G=0.013274 |
| gnomAD - Genomes | European | Sub | 75956 | A=0.98092 | G=0.01908 |
| gnomAD - Genomes | African | Sub | 42050 | A=0.99703 | G=0.00297 |
| gnomAD - Genomes | American | Sub | 13660 | A=0.98272 | G=0.01728 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.9898 | G=0.0102 |
| gnomAD - Genomes | East Asian | Sub | 3134 | A=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | A=0.9916 | G=0.0084 |
| ExAC | Global | Study-wide | 121378 | A=0.986637 | G=0.013363 |
| ExAC | Europe | Sub | 73344 | A=0.97971 | G=0.02029 |
| ExAC | Asian | Sub | 25164 | A=0.99873 | G=0.00127 |
| ExAC | American | Sub | 11558 | A=0.99515 | G=0.00485 |
| ExAC | African | Sub | 10406 | A=0.99721 | G=0.00279 |
| ExAC | Other | Sub | 906 | A=0.981 | G=0.019 |
| The PAGE Study | Global | Study-wide | 78696 | A=0.99503 | G=0.00497 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | A=0.99677 | G=0.00323 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.99445 | G=0.00555 |
| The PAGE Study | Asian | Sub | 8316 | A=0.9998 | G=0.0002 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.9893 | G=0.0107 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.9971 | G=0.0029 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.9901 | G=0.0099 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.9901 | G=0.0099 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.9947 | G=0.0053 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.9909 | G=0.0091 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.9897 | G=0.0103 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.998 | G=0.002 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.99996 | G=0.00004 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.99994 | G=0.00006 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.9953 | G=0.0047 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.9994 | G=0.0006 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.9882 | G=0.0118 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.9975 | G=0.0025 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=1.0000 | G=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | A=0.989 | G=0.011 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.9948 | G=0.0052 |
| 1000Genomes | African | Sub | 1322 | A=0.9992 | G=0.0008 |
| 1000Genomes | East Asian | Sub | 1008 | A=1.0000 | G=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.9861 | G=0.0139 |
| 1000Genomes | South Asian | Sub | 978 | A=0.997 | G=0.003 |
| 1000Genomes | American | Sub | 694 | A=0.988 | G=0.012 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.9761 | G=0.0239 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9813 | G=0.0187 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9800 | G=0.0200 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.970 | G=0.030 |
| HapMap | Global | Study-wide | 708 | A=0.994 | G=0.006 |
| HapMap | American | Sub | 324 | A=0.994 | G=0.006 |
| HapMap | Europe | Sub | 176 | A=0.989 | G=0.011 |
| HapMap | African | Sub | 120 | A=1.000 | G=0.000 |
| HapMap | Asian | Sub | 88 | A=1.00 | G=0.00 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.972 | G=0.028 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.987 | G=0.013 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.987 | G=0.013 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | A=0.97 | G=0.03 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.95 | G=0.05 |
| SGDP_PRJ | Global | Study-wide | 2 | A=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.19956018A>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19813529A>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.59302A>G |
Gene: LPL, lipoprotein lipase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LPL transcript | NM_000237.3:c.953A>G | N [AAT] > S [AGT] | Coding Sequence Variant |
| lipoprotein lipase precursor | NP_000228.1:p.Asn318Ser | N (Asn) > S (Ser) | Missense Variant |
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: G (allele ID:
16589
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000001615.6 | Hyperlipidemia, familial combined, LPL related | Pathogenic |
| RCV000781944.1 | Hyperlipidemia, familial combined, susceptibility to | Risk-Factor |
| RCV000988041.8 | Hyperlipoproteinemia, type I | Uncertain-Significance |
| RCV001356263.7 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
| RCV002222335.1 | 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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.19956018= | NC_000008.11:g.19956018A>G |
| GRCh37.p13 chr 8 | NC_000008.10:g.19813529= | NC_000008.10:g.19813529A>G |
| LPL RefSeqGene (LRG_1298) | NG_008855.2:g.59302= | NG_008855.2:g.59302A>G |
| LPL transcript | NM_000237.3:c.953= | NM_000237.3:c.953A>G |
| LPL transcript | NM_000237.2:c.953= | NM_000237.2:c.953A>G |
| lipoprotein lipase precursor | NP_000228.1:p.Asn318= | NP_000228.1:p.Asn318Ser |
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#.
100 SubSNP,
21 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | DEBNICK | ss268 | Sep 19, 2000 (36) |
| 2 | PERLEGEN | ss23712753 | Sep 20, 2004 (123) |
| 3 | MGC_GENOME_DIFF | ss28505039 | Sep 24, 2004 (126) |
| 4 | APPLERA_GI | ss48420135 | Mar 11, 2006 (126) |
| 5 | PERLEGEN | ss69043148 | May 17, 2007 (127) |
| 6 | AFFY | ss74819581 | Aug 16, 2007 (128) |
| 7 | ILLUMINA | ss74905524 | Dec 06, 2007 (129) |
| 8 | BCMHGSC_JDW | ss93851529 | Mar 25, 2008 (129) |
| 9 | ENSEMBL | ss143320833 | Dec 01, 2009 (131) |
| 10 | ILLUMINA | ss173427532 | Jul 04, 2010 (132) |
| 11 | PAGE_STUDY | ss181341869 | Jul 04, 2010 (132) |
| 12 | BCM-HGSC-SUB | ss206439351 | Jul 04, 2010 (132) |
| 13 | 1000GENOMES | ss217321419 | Jul 14, 2010 (132) |
| 14 | 1000GENOMES | ss217397623 | Jul 14, 2010 (132) |
| 15 | 1000GENOMES | ss217418282 | Jul 14, 2010 (132) |
| 16 | OMICIA | ss244238715 | May 27, 2010 (132) |
| 17 | ILLUMINA | ss244291490 | Jul 04, 2010 (132) |
| 18 | OMIM-CURATED-RECORDS | ss252841599 | Aug 10, 2010 (132) |
| 19 | 1000GENOMES | ss334734988 | May 09, 2011 (134) |
| 20 | NHLBI-ESP | ss342253784 | May 09, 2011 (134) |
| 21 | 1000GENOMES | ss490960919 | May 04, 2012 (137) |
| 22 | EXOME_CHIP | ss491410891 | May 04, 2012 (137) |
| 23 | CLINSEQ_SNP | ss491921986 | May 04, 2012 (137) |
| 24 | ILLUMINA | ss537115398 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss780867933 | Sep 08, 2015 (146) |
| 26 | ILLUMINA | ss783552867 | Sep 08, 2015 (146) |
| 27 | EVA-GONL | ss985272617 | Aug 21, 2014 (142) |
| 28 | 1000GENOMES | ss1328915147 | Aug 21, 2014 (142) |
| 29 | EVA_GENOME_DK | ss1582593752 | Apr 01, 2015 (144) |
| 30 | EVA_FINRISK | ss1584057346 | Apr 01, 2015 (144) |
| 31 | EVA_DECODE | ss1594862271 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_ALSPAC | ss1620133702 | Apr 01, 2015 (144) |
| 33 | EVA_UK10K_TWINSUK | ss1663127735 | Apr 01, 2015 (144) |
| 34 | EVA_EXAC | ss1689111573 | Apr 01, 2015 (144) |
| 35 | EVA_MGP | ss1711194704 | Apr 01, 2015 (144) |
| 36 | EVA_SVP | ss1713021090 | Apr 01, 2015 (144) |
| 37 | ILLUMINA | ss1752723237 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss1917826322 | Feb 12, 2016 (147) |
| 39 | ILLUMINA | ss1946231540 | Feb 12, 2016 (147) |
| 40 | ILLUMINA | ss1946231541 | Feb 12, 2016 (147) |
| 41 | ILLUMINA | ss1959093877 | Feb 12, 2016 (147) |
| 42 | ILLUMINA | ss1959093878 | Feb 12, 2016 (147) |
| 43 | JJLAB | ss2024980549 | Sep 14, 2016 (149) |
| 44 | HUMAN_LONGEVITY | ss2301287943 | Dec 20, 2016 (150) |
| 45 | ILLUMINA | ss2634720445 | Nov 08, 2017 (151) |
| 46 | ILLUMINA | ss2711132106 | Nov 08, 2017 (151) |
| 47 | GNOMAD | ss2737022388 | Nov 08, 2017 (151) |
| 48 | GNOMAD | ss2748007727 | Nov 08, 2017 (151) |
| 49 | GNOMAD | ss2864092854 | Nov 08, 2017 (151) |
| 50 | AFFY | ss2985433050 | Nov 08, 2017 (151) |
| 51 | AFFY | ss2986076176 | Nov 08, 2017 (151) |
| 52 | SWEGEN | ss3002804432 | Nov 08, 2017 (151) |
| 53 | ILLUMINA | ss3022826073 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss3022826074 | Nov 08, 2017 (151) |
| 55 | CSHL | ss3348082024 | Nov 08, 2017 (151) |
| 56 | ILLUMINA | ss3625947308 | Oct 12, 2018 (152) |
| 57 | ILLUMINA | ss3630013637 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3630013638 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3635162175 | Oct 12, 2018 (152) |
| 60 | ILLUMINA | ss3638748368 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3640869465 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3643680166 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3644964714 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3644964715 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3653367027 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3653367028 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3654194864 | Oct 12, 2018 (152) |
| 68 | EGCUT_WGS | ss3670484468 | Jul 13, 2019 (153) |
| 69 | EVA_DECODE | ss3721555439 | Jul 13, 2019 (153) |
| 70 | ILLUMINA | ss3726520351 | Jul 13, 2019 (153) |
| 71 | ACPOP | ss3735467033 | Jul 13, 2019 (153) |
| 72 | ILLUMINA | ss3744302894 | Jul 13, 2019 (153) |
| 73 | ILLUMINA | ss3744577751 | Jul 13, 2019 (153) |
| 74 | ILLUMINA | ss3745461958 | Jul 13, 2019 (153) |
| 75 | EVA | ss3767717753 | Jul 13, 2019 (153) |
| 76 | PAGE_CC | ss3771428683 | Jul 13, 2019 (153) |
| 77 | ILLUMINA | ss3772954551 | Jul 13, 2019 (153) |
| 78 | EVA | ss3824351410 | Apr 26, 2020 (154) |
| 79 | EVA | ss3825737076 | Apr 26, 2020 (154) |
| 80 | SGDP_PRJ | ss3869436715 | Apr 26, 2020 (154) |
| 81 | EVA | ss3985347111 | Apr 27, 2021 (155) |
| 82 | EVA | ss3986415474 | Apr 27, 2021 (155) |
| 83 | EVA | ss4017379939 | Apr 27, 2021 (155) |
| 84 | TOPMED | ss4778093028 | Apr 27, 2021 (155) |
| 85 | TOMMO_GENOMICS | ss5187654418 | Apr 27, 2021 (155) |
| 86 | EVA | ss5237651001 | Oct 14, 2022 (156) |
| 87 | 1000G_HIGH_COVERAGE | ss5276330174 | Oct 14, 2022 (156) |
| 88 | EVA | ss5379642199 | Oct 14, 2022 (156) |
| 89 | HUGCELL_USP | ss5472980788 | Oct 14, 2022 (156) |
| 90 | 1000G_HIGH_COVERAGE | ss5566254043 | Oct 14, 2022 (156) |
| 91 | SANFORD_IMAGENETICS | ss5624687989 | Oct 14, 2022 (156) |
| 92 | SANFORD_IMAGENETICS | ss5644923846 | Oct 14, 2022 (156) |
| 93 | TOMMO_GENOMICS | ss5729271021 | Oct 14, 2022 (156) |
| 94 | EVA | ss5799434390 | Oct 14, 2022 (156) |
| 95 | EVA | ss5830224465 | Oct 14, 2022 (156) |
| 96 | EVA | ss5848169554 | Oct 14, 2022 (156) |
| 97 | EVA | ss5848702264 | Oct 14, 2022 (156) |
| 98 | EVA | ss5888021520 | Oct 14, 2022 (156) |
| 99 | EVA | ss5974104341 | Oct 14, 2022 (156) |
| 100 | EVA | ss5979856490 | Oct 14, 2022 (156) |
| 101 | 1000Genomes | NC_000008.10 - 19813529 | Oct 12, 2018 (152) |
| 102 | 1000Genomes_30x | NC_000008.11 - 19956018 | Oct 14, 2022 (156) |
| 103 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 19813529 | Oct 12, 2018 (152) |
| 104 | Genetic variation in the Estonian population | NC_000008.10 - 19813529 | Oct 12, 2018 (152) |
| 105 | ExAC | NC_000008.10 - 19813529 | Oct 12, 2018 (152) |
| 106 | FINRISK | NC_000008.10 - 19813529 | Apr 26, 2020 (154) |
| 107 | The Danish reference pan genome | NC_000008.10 - 19813529 | Apr 26, 2020 (154) |
| 108 | gnomAD - Genomes | NC_000008.11 - 19956018 | Apr 27, 2021 (155) |
| 109 | gnomAD - Exomes | NC_000008.10 - 19813529 | Jul 13, 2019 (153) |
| 110 | Genome of the Netherlands Release 5 | NC_000008.10 - 19813529 | Apr 26, 2020 (154) |
| 111 | HapMap | NC_000008.11 - 19956018 | Apr 26, 2020 (154) |
| 112 | Medical Genome Project healthy controls from Spanish population | NC_000008.10 - 19813529 | Apr 26, 2020 (154) |
| 113 | Northern Sweden | NC_000008.10 - 19813529 | Jul 13, 2019 (153) |
| 114 | The PAGE Study | NC_000008.11 - 19956018 | Jul 13, 2019 (153) |
| 115 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000008.10 - 19813529 | Apr 27, 2021 (155) |
| 116 | SGDP_PRJ | NC_000008.10 - 19813529 | Apr 26, 2020 (154) |
| 117 | 8.3KJPN | NC_000008.10 - 19813529 | Apr 27, 2021 (155) |
| 118 | 14KJPN | NC_000008.11 - 19956018 | Oct 14, 2022 (156) |
| 119 | TopMed | NC_000008.11 - 19956018 | Apr 27, 2021 (155) |
| 120 | UK 10K study - Twins | NC_000008.10 - 19813529 | Oct 12, 2018 (152) |
| 121 | ALFA | NC_000008.11 - 19956018 | Apr 27, 2021 (155) |
| 122 | ClinVar | RCV000001615.6 | Oct 14, 2022 (156) |
| 123 | ClinVar | RCV000781944.1 | Jul 13, 2019 (153) |
| 124 | ClinVar | RCV000988041.8 | Oct 14, 2022 (156) |
| 125 | ClinVar | RCV001356263.7 | Oct 14, 2022 (156) |
| 126 | ClinVar | RCV002222335.1 | 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) |
|---|---|
| rs17850737 | Mar 11, 2006 (126) |
| rs52818902 | Sep 21, 2007 (128) |
| rs386571803 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss93851529, ss206439351, ss217321419, ss217397623, ss217418282, ss244291490, ss491921986, ss1594862271, ss1713021090, ss3643680166 | NC_000008.9:19857808:A:G | NC_000008.11:19956017:A:G | (self) |
| 41009890, 22797095, 16222716, 9205169, 53807, 8758690, 6190779, 10186933, 310464, 8751898, 573038, 21453695, 45623725, 22797095, ss334734988, ss342253784, ss490960919, ss491410891, ss537115398, ss780867933, ss783552867, ss985272617, ss1328915147, ss1582593752, ss1584057346, ss1620133702, ss1663127735, ss1689111573, ss1711194704, ss1752723237, ss1917826322, ss1946231540, ss1946231541, ss1959093877, ss1959093878, ss2024980549, ss2634720445, ss2711132106, ss2737022388, ss2748007727, ss2864092854, ss2985433050, ss2986076176, ss3002804432, ss3022826073, ss3022826074, ss3348082024, ss3625947308, ss3630013637, ss3630013638, ss3635162175, ss3638748368, ss3640869465, ss3644964714, ss3644964715, ss3653367027, ss3653367028, ss3654194864, ss3670484468, ss3735467033, ss3744302894, ss3744577751, ss3745461958, ss3767717753, ss3772954551, ss3824351410, ss3825737076, ss3869436715, ss3985347111, ss3986415474, ss4017379939, ss5187654418, ss5379642199, ss5624687989, ss5644923846, ss5799434390, ss5830224465, ss5848169554, ss5848702264, ss5974104341, ss5979856490 | NC_000008.10:19813528:A:G | NC_000008.11:19956017:A:G | (self) |
| RCV000001615.6, RCV000781944.1, RCV000988041.8, RCV001356263.7, RCV002222335.1, 53779978, 289194884, 3580981, 650152, 63108125, 615470588, 4798625361, ss244238715, ss252841599, ss2301287943, ss3721555439, ss3726520351, ss3771428683, ss4778093028, ss5237651001, ss5276330174, ss5472980788, ss5566254043, ss5729271021, ss5888021520 | NC_000008.11:19956017:A:G | NC_000008.11:19956017:A:G | (self) |
| ss268, ss23712753, ss28505039, ss48420135, ss69043148, ss74819581, ss74905524, ss143320833, ss173427532, ss181341869 | NT_167187.1:7671674:A:G | NC_000008.11:19956017:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
29
citations for rs268
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 8541837 | A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. | Reymer PW et al. | 1995 | Human molecular genetics |
| 17357073 | Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. | Pare G et al. | 2007 | American journal of human genetics |
| 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 |
| 18660489 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | Lu Y et al. | 2008 | Journal of lipid research |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22042884 | Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study. | Franceschini N et al. | 2011 | Circulation. Cardiovascular genetics |
| 22239554 | Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. | Surendran RP et al. | 2012 | Journal of internal medicine |
| 22629316 | Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. | Musunuru K et al. | 2012 | PloS one |
| 24319689 | The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism. | de Almeida ER et al. | 2013 | BioMed research international |
| 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 |
| 25474356 | Highly significant association between two common single nucleotide polymorphisms in CORIN gene and preeclampsia in Caucasian women. | Stepanian A et al. | 2014 | PloS one |
| 25626708 | Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels. | Pirim D et al. | 2015 | European journal of human genetics |
| 26975783 | Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease. | Ren L et al. | 2016 | Neuroscience letters |
| 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 |
| 30333156 | Genetic and secondary causes of severe HDL deficiency and cardiovascular disease. | Geller AS et al. | 2018 | Journal of lipid research |
| 32952508 | Association of Four Missense SNPs with Preeclampsia in Saudi Women. | Aljuaid NM et al. | 2020 | Saudi journal of medicine & medical sciences |
| 35351696 | Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss. | Aldubayan MA et al. | 2022 | BMJ open |
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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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.