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.
rs4420638
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr19:44919689 (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=0.167951 (44455/264690, TOPMED)G=0.168547 (27609/163806, ALFA)G=0.183742 (25678/139750, GnomAD) (+ 17 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- APOC1 : 500B Downstream Variant
- Publications
- 168 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 163900 | A=0.831483 | G=0.168517 |
| European | Sub | 138064 | A=0.829985 | G=0.170015 |
| African | Sub | 9024 | A=0.7949 | G=0.2051 |
| African Others | Sub | 298 | A=0.772 | G=0.228 |
| African American | Sub | 8726 | A=0.7957 | G=0.2043 |
| Asian | Sub | 486 | A=0.885 | G=0.115 |
| East Asian | Sub | 328 | A=0.887 | G=0.113 |
| Other Asian | Sub | 158 | A=0.880 | G=0.120 |
| Latin American 1 | Sub | 766 | A=0.800 | G=0.200 |
| Latin American 2 | Sub | 6180 | A=0.9039 | G=0.0961 |
| South Asian | Sub | 184 | A=0.908 | G=0.092 |
| Other | Sub | 9196 | A=0.8395 | G=0.1605 |
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=0.832049 | G=0.167951 |
| Allele Frequency Aggregator | Total | Global | 163806 | A=0.831453 | G=0.168547 |
| Allele Frequency Aggregator | European | Sub | 137988 | A=0.829971 | G=0.170029 |
| Allele Frequency Aggregator | Other | Sub | 9178 | A=0.8392 | G=0.1608 |
| Allele Frequency Aggregator | African | Sub | 9024 | A=0.7949 | G=0.2051 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6180 | A=0.9039 | G=0.0961 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 766 | A=0.800 | G=0.200 |
| Allele Frequency Aggregator | Asian | Sub | 486 | A=0.885 | G=0.115 |
| Allele Frequency Aggregator | South Asian | Sub | 184 | A=0.908 | G=0.092 |
| gnomAD - Genomes | Global | Study-wide | 139750 | A=0.816258 | G=0.183742 |
| gnomAD - Genomes | European | Sub | 75728 | A=0.80900 | G=0.19100 |
| gnomAD - Genomes | African | Sub | 41848 | A=0.79595 | G=0.20405 |
| gnomAD - Genomes | American | Sub | 13588 | A=0.89079 | G=0.10921 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.8482 | G=0.1518 |
| gnomAD - Genomes | East Asian | Sub | 3116 | A=0.8848 | G=0.1152 |
| gnomAD - Genomes | Other | Sub | 2150 | A=0.8474 | G=0.1526 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.88839 | G=0.11161 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.89147 | G=0.10853 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.8478 | G=0.1522 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.7861 | G=0.2139 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.8033 | G=0.1967 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.8860 | G=0.1140 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.9017 | G=0.0983 |
| 1000Genomes_30x | American | Sub | 980 | A=0.906 | G=0.094 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.8490 | G=0.1510 |
| 1000Genomes | African | Sub | 1322 | A=0.7799 | G=0.2201 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.9008 | G=0.0992 |
| 1000Genomes | Europe | Sub | 1006 | A=0.8022 | G=0.1978 |
| 1000Genomes | South Asian | Sub | 978 | A=0.898 | G=0.102 |
| 1000Genomes | American | Sub | 694 | A=0.905 | G=0.095 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.8230 | G=0.1770 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.8142 | G=0.1858 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.8263 | G=0.1737 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.8932 | G=0.1068 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.8865 | G=0.1135 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.800 | G=0.200 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 786 | A=0.861 | G=0.139 |
| CNV burdens in cranial meningiomas | CRM | Sub | 786 | A=0.861 | G=0.139 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.818 | G=0.182 |
| Qatari | Global | Study-wide | 216 | A=0.764 | G=0.236 |
| SGDP_PRJ | Global | Study-wide | 162 | A=0.407 | G=0.593 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 46 | A=0.91 | G=0.09 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.75 | G=0.25 |
| Siberian | Global | Study-wide | 8 | A=0.4 | G=0.6 |
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 19 | NC_000019.10:g.44919689A>G |
| GRCh37.p13 chr 19 | NC_000019.9:g.45422946A>G |
| APOC1 RefSeqGene | NG_012859.1:g.10026A>G |
Gene: APOC1, apolipoprotein C1
(plus strand)
:
500B Downstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| APOC1 transcript variant 2 | NM_001321065.2:c. | N/A | Downstream Transcript Variant |
| APOC1 transcript variant 3 | NM_001321066.2:c. | N/A | Downstream Transcript Variant |
| APOC1 transcript variant 4 | NM_001379687.1:c. | N/A | Downstream Transcript Variant |
| APOC1 transcript variant 1 | NM_001645.5:c. | N/A | Downstream Transcript 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:
171890
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000190314.1 | not provided | Not-Provided |
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 19 | NC_000019.10:g.44919689= | NC_000019.10:g.44919689A>G |
| GRCh37.p13 chr 19 | NC_000019.9:g.45422946= | NC_000019.9:g.45422946A>G |
| APOC1 RefSeqGene | NG_012859.1:g.10026= | NG_012859.1:g.10026A>G |
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#.
128 SubSNP,
20 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss5917105 | Feb 20, 2003 (111) |
| 2 | AFFY | ss66185226 | Nov 30, 2006 (136) |
| 3 | ILLUMINA | ss74978067 | Dec 07, 2007 (129) |
| 4 | AFFY | ss76254879 | Dec 08, 2007 (136) |
| 5 | KRIBB_YJKIM | ss82036004 | Dec 15, 2007 (130) |
| 6 | HUMANGENOME_JCVI | ss96308989 | Feb 06, 2009 (130) |
| 7 | RSG_UW | ss107936514 | Feb 06, 2009 (130) |
| 8 | ENSEMBL | ss143968698 | Dec 01, 2009 (131) |
| 9 | ILLUMINA | ss160678579 | Dec 01, 2009 (131) |
| 10 | COMPLETE_GENOMICS | ss168244196 | Jul 04, 2010 (132) |
| 11 | AFFY | ss172992896 | Jul 04, 2010 (136) |
| 12 | ILLUMINA | ss173730727 | Jul 04, 2010 (132) |
| 13 | PAGE_STUDY | ss181341877 | Jul 04, 2010 (132) |
| 14 | PAGE_STUDY | ss181834214 | Jul 04, 2010 (132) |
| 15 | PAGE_STUDY | ss181836040 | Jul 04, 2010 (132) |
| 16 | BUSHMAN | ss203765889 | Jul 04, 2010 (132) |
| 17 | GMI | ss283224166 | May 04, 2012 (137) |
| 18 | 1000GENOMES | ss340491331 | May 09, 2011 (134) |
| 19 | ILLUMINA | ss410933426 | Sep 17, 2011 (135) |
| 20 | PAGE_STUDY | ss469414595 | May 04, 2012 (136) |
| 21 | ILLUMINA | ss480943096 | May 04, 2012 (137) |
| 22 | ILLUMINA | ss480962653 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss481928791 | Sep 08, 2015 (146) |
| 24 | ILLUMINA | ss485266468 | May 04, 2012 (137) |
| 25 | EXOME_CHIP | ss491549558 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss537234969 | Sep 08, 2015 (146) |
| 27 | TISHKOFF | ss566007639 | Apr 25, 2013 (138) |
| 28 | SSMP | ss661874643 | Apr 25, 2013 (138) |
| 29 | ILLUMINA | ss778535902 | Aug 21, 2014 (142) |
| 30 | ILLUMINA | ss780685059 | Aug 21, 2014 (142) |
| 31 | ILLUMINA | ss783079165 | Aug 21, 2014 (142) |
| 32 | ILLUMINA | ss783358535 | Aug 21, 2014 (142) |
| 33 | ILLUMINA | ss784036824 | Aug 21, 2014 (142) |
| 34 | ILLUMINA | ss832337455 | Apr 01, 2015 (144) |
| 35 | ILLUMINA | ss833992475 | Aug 21, 2014 (142) |
| 36 | EVA-GONL | ss994339260 | Aug 21, 2014 (142) |
| 37 | JMKIDD_LAB | ss1081930497 | Aug 21, 2014 (142) |
| 38 | 1000GENOMES | ss1363326499 | Aug 21, 2014 (142) |
| 39 | DDI | ss1428413950 | Apr 01, 2015 (144) |
| 40 | KYOTOUNIVOPHTHALMOL | ss1537037935 | Jan 12, 2015 (142) |
| 41 | EVA_GENOME_DK | ss1578653666 | Apr 01, 2015 (144) |
| 42 | EVA_UK10K_ALSPAC | ss1638043782 | Apr 01, 2015 (144) |
| 43 | EVA_UK10K_TWINSUK | ss1681037815 | Apr 01, 2015 (144) |
| 44 | EVA_DECODE | ss1698394218 | Apr 01, 2015 (144) |
| 45 | EVA_SVP | ss1713664905 | Apr 01, 2015 (144) |
| 46 | ILLUMINA | ss1752288236 | Sep 08, 2015 (146) |
| 47 | ILLUMINA | ss1752288237 | Sep 08, 2015 (146) |
| 48 | HAMMER_LAB | ss1809326005 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss1917938928 | Feb 12, 2016 (147) |
| 50 | WEILL_CORNELL_DGM | ss1937835913 | Feb 12, 2016 (147) |
| 51 | ILLUMINA | ss1946537665 | Feb 12, 2016 (147) |
| 52 | ILLUMINA | ss1959869724 | Feb 12, 2016 (147) |
| 53 | JJLAB | ss2029695363 | Sep 14, 2016 (149) |
| 54 | ILLUMINA | ss2094804142 | Dec 20, 2016 (150) |
| 55 | USC_VALOUEV | ss2158238135 | Dec 20, 2016 (150) |
| 56 | HUMAN_LONGEVITY | ss2226012922 | Dec 20, 2016 (150) |
| 57 | SYSTEMSBIOZJU | ss2629344318 | Nov 08, 2017 (151) |
| 58 | ILLUMINA | ss2633544216 | Nov 08, 2017 (151) |
| 59 | ILLUMINA | ss2633544217 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss2633544218 | Nov 08, 2017 (151) |
| 61 | GRF | ss2702851427 | Nov 08, 2017 (151) |
| 62 | ILLUMINA | ss2710884172 | Nov 08, 2017 (151) |
| 63 | GNOMAD | ss2963331202 | Nov 08, 2017 (151) |
| 64 | AFFY | ss2985144695 | Nov 08, 2017 (151) |
| 65 | AFFY | ss2985775665 | Nov 08, 2017 (151) |
| 66 | SWEGEN | ss3017540893 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss3021911649 | Nov 08, 2017 (151) |
| 68 | CSHL | ss3352320732 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3625742896 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3627941641 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3627941642 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3631515228 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3633892020 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3634738118 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3634738119 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3635578767 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3636425155 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3637330517 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3638229888 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3640445426 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3640445427 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3643202431 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3644726180 | Oct 12, 2018 (152) |
| 84 | BIOINF_KMB_FNS_UNIBA | ss3645522875 | Oct 12, 2018 (152) |
| 85 | URBANLAB | ss3650925133 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3652337759 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3652337760 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3653917442 | Oct 12, 2018 (152) |
| 89 | EGCUT_WGS | ss3684286757 | Jul 13, 2019 (153) |
| 90 | EVA_DECODE | ss3702845984 | Jul 13, 2019 (153) |
| 91 | ILLUMINA | ss3725733631 | Jul 13, 2019 (153) |
| 92 | ACPOP | ss3743072686 | Jul 13, 2019 (153) |
| 93 | ILLUMINA | ss3744466147 | Jul 13, 2019 (153) |
| 94 | ILLUMINA | ss3744466148 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3744466149 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3745038127 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3745038128 | Jul 13, 2019 (153) |
| 98 | EVA | ss3756111879 | Jul 13, 2019 (153) |
| 99 | ILLUMINA | ss3772535211 | Jul 13, 2019 (153) |
| 100 | ILLUMINA | ss3772535212 | Jul 13, 2019 (153) |
| 101 | KHV_HUMAN_GENOMES | ss3821359990 | Jul 13, 2019 (153) |
| 102 | EVA | ss3835481231 | Apr 27, 2020 (154) |
| 103 | EVA | ss3841363394 | Apr 27, 2020 (154) |
| 104 | EVA | ss3846869445 | Apr 27, 2020 (154) |
| 105 | SGDP_PRJ | ss3888305534 | Apr 27, 2020 (154) |
| 106 | KRGDB | ss3938432972 | Apr 27, 2020 (154) |
| 107 | KOGIC | ss3981436733 | Apr 27, 2020 (154) |
| 108 | EVA | ss3984742825 | Apr 26, 2021 (155) |
| 109 | EVA | ss3985856238 | Apr 26, 2021 (155) |
| 110 | EVA | ss4017826845 | Apr 26, 2021 (155) |
| 111 | TOPMED | ss5076168864 | Apr 26, 2021 (155) |
| 112 | TOMMO_GENOMICS | ss5227951062 | Apr 26, 2021 (155) |
| 113 | EVA | ss5237597858 | Apr 26, 2021 (155) |
| 114 | 1000G_HIGH_COVERAGE | ss5307395882 | Oct 13, 2022 (156) |
| 115 | EVA | ss5315977236 | Oct 13, 2022 (156) |
| 116 | EVA | ss5435087602 | Oct 13, 2022 (156) |
| 117 | HUGCELL_USP | ss5499891755 | Oct 13, 2022 (156) |
| 118 | 1000G_HIGH_COVERAGE | ss5613191563 | Oct 13, 2022 (156) |
| 119 | SANFORD_IMAGENETICS | ss5662475742 | Oct 13, 2022 (156) |
| 120 | TOMMO_GENOMICS | ss5786645452 | Oct 13, 2022 (156) |
| 121 | YY_MCH | ss5817637171 | Oct 13, 2022 (156) |
| 122 | EVA | ss5840606895 | Oct 13, 2022 (156) |
| 123 | EVA | ss5847497734 | Oct 13, 2022 (156) |
| 124 | EVA | ss5847846261 | Oct 13, 2022 (156) |
| 125 | EVA | ss5852304059 | Oct 13, 2022 (156) |
| 126 | EVA | ss5928256583 | Oct 13, 2022 (156) |
| 127 | EVA | ss5953885528 | Oct 13, 2022 (156) |
| 128 | EVA | ss5979547905 | Oct 13, 2022 (156) |
| 129 | 1000Genomes | NC_000019.9 - 45422946 | Oct 12, 2018 (152) |
| 130 | 1000Genomes_30x | NC_000019.10 - 44919689 | Oct 13, 2022 (156) |
| 131 | The Avon Longitudinal Study of Parents and Children | NC_000019.9 - 45422946 | Oct 12, 2018 (152) |
| 132 | Genetic variation in the Estonian population | NC_000019.9 - 45422946 | Oct 12, 2018 (152) |
| 133 | The Danish reference pan genome | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 134 | gnomAD - Genomes | NC_000019.10 - 44919689 | Apr 26, 2021 (155) |
| 135 | Genome of the Netherlands Release 5 | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 136 | KOREAN population from KRGDB | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 137 | Korean Genome Project | NC_000019.10 - 44919689 | Apr 27, 2020 (154) |
| 138 | Northern Sweden | NC_000019.9 - 45422946 | Jul 13, 2019 (153) |
| 139 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000019.9 - 45422946 | Apr 26, 2021 (155) |
| 140 | CNV burdens in cranial meningiomas | NC_000019.9 - 45422946 | Apr 26, 2021 (155) |
| 141 | Qatari | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 142 | SGDP_PRJ | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 143 | Siberian | NC_000019.9 - 45422946 | Apr 27, 2020 (154) |
| 144 | 8.3KJPN | NC_000019.9 - 45422946 | Apr 26, 2021 (155) |
| 145 | 14KJPN | NC_000019.10 - 44919689 | Oct 13, 2022 (156) |
| 146 | TopMed | NC_000019.10 - 44919689 | Apr 26, 2021 (155) |
| 147 | UK 10K study - Twins | NC_000019.9 - 45422946 | Oct 12, 2018 (152) |
| 148 | ALFA | NC_000019.10 - 44919689 | Apr 26, 2021 (155) |
| 149 | ClinVar | RCV000190314.1 | Oct 12, 2018 (152) |
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) |
|---|---|
| rs41377151 | Aug 25, 2014 (136) |
| rs56487544 | Dec 02, 2009 (131) |
| rs59077868 | Feb 27, 2009 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss160678579, ss168244196, ss203765889, ss283224166, ss410933426, ss480943096, ss1698394218, ss1713664905, ss3643202431 | NC_000019.8:50114785:A:G | NC_000019.10:44919688:A:G | (self) |
| 76739044, 42493991, 30025005, 4835597, 18930639, 45610366, 16357551, 1082165, 292385, 19877835, 40322514, 10754489, 85920369, 42493991, ss340491331, ss480962653, ss481928791, ss485266468, ss491549558, ss537234969, ss566007639, ss661874643, ss778535902, ss780685059, ss783079165, ss783358535, ss784036824, ss832337455, ss833992475, ss994339260, ss1081930497, ss1363326499, ss1428413950, ss1578653666, ss1638043782, ss1681037815, ss1752288236, ss1752288237, ss1809326005, ss1917938928, ss1937835913, ss1946537665, ss1959869724, ss2029695363, ss2094804142, ss2158238135, ss2629344318, ss2633544216, ss2633544217, ss2633544218, ss2702851427, ss2710884172, ss2963331202, ss2985144695, ss2985775665, ss3017540893, ss3021911649, ss3352320732, ss3625742896, ss3627941641, ss3627941642, ss3631515228, ss3633892020, ss3634738118, ss3634738119, ss3635578767, ss3636425155, ss3637330517, ss3638229888, ss3640445426, ss3640445427, ss3644726180, ss3652337759, ss3652337760, ss3653917442, ss3684286757, ss3743072686, ss3744466147, ss3744466148, ss3744466149, ss3745038127, ss3745038128, ss3756111879, ss3772535211, ss3772535212, ss3835481231, ss3841363394, ss3888305534, ss3938432972, ss3984742825, ss3985856238, ss4017826845, ss5227951062, ss5237597858, ss5315977236, ss5435087602, ss5662475742, ss5840606895, ss5847497734, ss5847846261, ss5953885528, ss5979547905 | NC_000019.9:45422945:A:G | NC_000019.10:44919688:A:G | (self) |
| RCV000190314.1, 100717498, 541195829, 37814734, 120482556, 291714528, 11998370481, ss1537037935, ss2226012922, ss3645522875, ss3650925133, ss3702845984, ss3725733631, ss3821359990, ss3846869445, ss3981436733, ss5076168864, ss5307395882, ss5499891755, ss5613191563, ss5786645452, ss5817637171, ss5852304059, ss5928256583 | NC_000019.10:44919688:A:G | NC_000019.10:44919688:A:G | (self) |
| ss5917105, ss66185226, ss74978067, ss76254879, ss82036004, ss96308989, ss107936514, ss143968698, ss172992896, ss173730727, ss181341877, ss181834214, ss181836040, ss469414595 | NT_011109.16:17691163:A:G | NC_000019.10:44919688: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.
168
citations for rs4420638
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17474819 | A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. | Coon KD et al. | 2007 | The Journal of clinical psychiatry |
| 17998437 | Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. | Li H et al. | 2008 | Archives of neurology |
| 18161859 | Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? | Blom ES et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18179892 | Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. | Wallace C et al. | 2008 | American journal of human 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 |
| 18262040 | LDL-cholesterol concentrations: a genome-wide association study. | Sandhu MS et al. | 2008 | Lancet (London, England) |
| 18802019 | Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. | Burkhardt R et al. | 2008 | Arteriosclerosis, thrombosis, and vascular biology |
| 18852197 | Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. | Mohlke KL et al. | 2008 | Human molecular genetics |
| 18941475 | On Jim Watson's APOE status: genetic information is hard to hide. | Nyholt DR et al. | 2009 | European journal of human genetics |
| 18976728 | Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. | Bertram L et al. | 2008 | American journal of human genetics |
| 19060906 | Common variants at 30 loci contribute to polygenic dyslipidemia. | Kathiresan S et al. | 2009 | Nature genetics |
| 19060910 | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. | Sabatti C et al. | 2009 | Nature genetics |
| 19161620 | An open access database of genome-wide association results. | Johnson AD et al. | 2009 | BMC medical genetics |
| 19197348 | Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. | Lowe JK et al. | 2009 | PLoS genetics |
| 19204163 | GAB2 as an Alzheimer disease susceptibility gene: follow-up of genomewide association results. | Schjeide BM et al. | 2009 | Archives of neurology |
| 19265542 | Performance of random forest when SNPs are in linkage disequilibrium. | Meng YA et al. | 2009 | BMC bioinformatics |
| 19336475 | Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. | Drenos F et al. | 2009 | Human molecular genetics |
| 19336575 | Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy. | McKnight AJ et al. | 2009 | Nephrology, dialysis, transplantation |
| 19389868 | The coronary artery disease SNP, rs4420638, is associated with diabetic nephropathy rather than end-stage renal disease. | Buckham T et al. | 2009 | Nephrology, dialysis, transplantation |
| 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 |
| 19557197 | NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. | Heard-Costa NL et al. | 2009 | PLoS genetics |
| 19567438 | Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. | Elliott P et al. | 2009 | JAMA |
| 19569043 | Genome-wide association studies and the genetic dissection of complex traits. | Sebastiani P et al. | 2009 | American journal of hematology |
| 19729614 | Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. | Musunuru K et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
| 19750184 | Genome-wide association studies for atherosclerotic vascular disease and its risk factors. | Ding K et al. | 2009 | Circulation. Cardiovascular genetics |
| 19756043 | A simple and efficient algorithm for genome-wide homozygosity analysis in disease. | Liu W et al. | 2009 | Molecular systems biology |
| 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 |
| 19818961 | Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm. | Golledge J et al. | 2010 | Atherosclerosis |
| 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 |
| 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 |
| 20236449 | Genetics of Alzheimer disease in the pre- and post-GWAS era. | Ertekin-Taner N et al. | 2010 | Alzheimer's research & therapy |
| 20309761 | Genotype-based risk and pharmacogenetic sampling in clinical trials. | Schork NJ et al. | 2010 | Journal of biopharmaceutical statistics |
| 20339536 | Genome-wide association of lipid-lowering response to statins in combined study populations. | Barber MJ et al. | 2010 | PloS one |
| 20442857 | Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. | Suchindran S et al. | 2010 | PLoS genetics |
| 20460622 | Genome-wide analysis of genetic loci associated with Alzheimer disease. | Seshadri S et al. | 2010 | JAMA |
| 20498921 | APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men. | Ken-Dror G et al. | 2010 | Molecular medicine (Cambridge, Mass.) |
| 20529013 | APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation. | Beecham GW et al. | 2010 | Annals of human genetics |
| 20594621 | The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. | Guerreiro RJ et al. | 2012 | Neurobiology of aging |
| 20679960 | Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients. | Hu M et al. | 2010 | Pharmacogenetics and genomics |
| 20691829 | Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease. | Anderson JL et al. | 2010 | American heart journal |
| 20839009 | Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. | Gupta R et al. | 2010 | Human genetics |
| 20864672 | Genetic variants influencing circulating lipid levels and risk of coronary artery disease. | Waterworth DM et al. | 2010 | Arteriosclerosis, thrombosis, and vascular biology |
| 20972250 | Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. | Park MH et al. | 2011 | Journal of medical genetics |
| 21041806 | Genetic determinants of plasma triglycerides. | Johansen CT et al. | 2011 | Journal of lipid research |
| 21118897 | Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. | Kenny EE et al. | 2011 | Human molecular genetics |
| 21124753 | Alzheimer's disease: diagnostics, prognostics and the road to prevention. | Grossman I et al. | 2010 | The EPMA journal |
| 21127830 | Genetic associations in diabetic nephropathy: a meta-analysis. | Mooyaart AL et al. | 2011 | Diabetologia |
| 21146954 | Genes and abdominal aortic aneurysm. | Hinterseher I et al. | 2011 | Annals of vascular surgery |
| 21149302 | Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population. | Liu Y et al. | 2011 | Journal of lipid research |
| 21217833 | A knowledge-based weighting framework to boost the power of genome-wide association studies. | Li MX et al. | 2010 | PloS one |
| 21300955 | Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. | Dehghan A et al. | 2011 | Circulation |
| 21460841 | Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. | Naj AC et al. | 2011 | Nature genetics |
| 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 |
| 21537386 | Using In silico LD clumping and meta-analysis of genome-wide datasets as a complementary tool to investigate and validate new candidate biomarkers in Alzheimer's disease. | Medway C et al. | 2010 | International journal of molecular epidemiology and genetics |
| 21537449 | Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. | Webster J et al. | 2010 | International journal of molecular epidemiology and genetics |
| 21645382 | A note on the use of the generalized odds ratio in meta-analysis of association studies involving bi- and tri-allelic polymorphisms. | Pereira TV et al. | 2011 | BMC research notes |
| 21672907 | The application of naive Bayes model averaging to predict Alzheimer's disease from genome-wide data. | Wei W et al. | 2011 | Journal of the American Medical Informatics Association |
| 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 |
| 21804106 | Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. | Angelakopoulou A et al. | 2012 | European heart journal |
| 21825236 | Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. | Cruchaga C et al. | 2011 | Archives of neurology |
| 21829380 | Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. | Sanna S et al. | 2011 | PLoS genetics |
| 21853025 | A bayesian method for evaluating and discovering disease loci associations. | Jiang X et al. | 2011 | PloS one |
| 21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
| 21862702 | Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk. | Calandra S et al. | 2011 | Journal of lipid research |
| 21875899 | Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. | Peden JF et al. | 2011 | Human molecular genetics |
| 21937998 | Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults. | Curocichin G et al. | 2011 | Journal of human genetics |
| 21943158 | Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. | Middelberg RP et al. | 2011 | BMC medical genetics |
| 22003152 | Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. | Grallert H et al. | 2012 | European heart journal |
| 22005931 | Genome-wide association analysis of age-at-onset in Alzheimer's disease. | Kamboh MI et al. | 2012 | Molecular psychiatry |
| 22022282 | A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. | Avery CL et al. | 2011 | PLoS genetics |
| 22054870 | A genome-wide scan for common variants affecting the rate of age-related cognitive decline. | De Jager PL et al. | 2012 | Neurobiology of aging |
| 22073310 | Association of genetic loci with blood lipids in the Chinese population. | Zhang Z et al. | 2011 | PloS one |
| 22159054 | A comprehensive genetic association study of Alzheimer disease in African Americans. | Logue MW et al. | 2011 | Archives of neurology |
| 22195117 | Evaluating de novo locus-disease discoveries in GWAS using the signal-to-noise ratio. | Jiang X et al. | 2011 | AMIA ... Annual Symposium proceedings. AMIA Symposium |
| 22273362 | Data mining of high density genomic variant data for prediction of Alzheimer's disease risk. | Briones N et al. | 2012 | BMC medical genetics |
| 22291609 | A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. | Naitza S et al. | 2012 | PLoS genetics |
| 22368281 | Genome-wide association study of genetic determinants of LDL-c response to atorvastatin therapy: importance of Lp(a). | Deshmukh HA et al. | 2012 | Journal of lipid research |
| 22425169 | Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. | Shirts BH et al. | 2012 | Atherosclerosis |
| 22492993 | C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans. | Doumatey AP et al. | 2012 | Human molecular genetics |
| 22499766 | The search for longevity and healthy aging genes: insights from epidemiological studies and samples of long-lived individuals. | Murabito JM et al. | 2012 | The journals of gerontology. Series A, Biological sciences and medical sciences |
| 22567092 | MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS. | O'Reilly PF et al. | 2012 | PloS one |
| 22623978 | A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides. | Braun TR et al. | 2012 | PloS one |
| 22958594 | Golgi phosphoprotein 2 in physiology and in diseases. | Kim HJ et al. | 2012 | Cell & bioscience |
| 22972380 | Investigation of genetic risk factors for chronic adult diseases for association with preterm birth. | Falah N et al. | 2013 | Human genetics |
| 22994408 | Transferability and fine mapping of genome-wide associated loci for lipids in African Americans. | Adeyemo A et al. | 2012 | BMC medical genetics |
| 23098650 | Impact of variants within seven candidate genes on statin treatment efficacy. | Vrablík M et al. | 2012 | Physiological research |
| 23100282 | Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. | Hopewell JC et al. | 2013 | European heart journal |
| 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 |
| 23119086 | Variants identified in a GWAS meta-analysis for blood lipids are associated with the lipid response to fenofibrate. | Aslibekyan S et al. | 2012 | PloS one |
| 23150898 | Evaluation of seven common lipid associated loci in a large Indian sib pair study. | Rafiq S et al. | 2012 | Lipids in health and disease |
| 23236286 | Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. | Mercader JM et al. | 2012 | PLoS genetics |
| 23284720 | Using family-based imputation in genome-wide association studies with large complex pedigrees: the Framingham Heart Study. | Chen MH et al. | 2012 | PloS one |
| 23286790 | Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. | Beekman M et al. | 2013 | Aging cell |
| 23393188 | Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells. | Feldmann R et al. | 2013 | Nucleic acids research |
| 23455636 | Seven new loci associated with age-related macular degeneration. | Fritsche LG et al. | 2013 | Nature genetics |
| 23588940 | Association of polymorphisms modulating low-density lipoprotein cholesterol with susceptibility, severity, and progression of rheumatoid arthritis. | Park YJ et al. | 2013 | The Journal of rheumatology |
| 23925498 | Genetics of healthy aging and longevity. | Brooks-Wilson AR et al. | 2013 | Human genetics |
| 24274136 | Biobanking across the phenome - at the center of chronic disease research. | Imboden M et al. | 2013 | BMC public health |
| 24386469 | Use of systems biology approaches to analysis of genome-wide association studies of myocardial infarction and blood cholesterol in the nurses' health study and health professionals' follow-up study. | Reilly D et al. | 2013 | PloS one |
| 24498017 | Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. | Seddon JM et al. | 2014 | PloS one |
| 24688116 | Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. | Deelen J et al. | 2014 | Human molecular genetics |
| 24763700 | New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. | Vinayagamoorthy N et al. | 2014 | PloS one |
| 24868529 | The three genetics (nuclear DNA, mitochondrial DNA, and gut microbiome) of longevity in humans considered as metaorganisms. | Garagnani P et al. | 2014 | BioMed research international |
| 24922540 | Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study. | Varga TV et al. | 2014 | PLoS genetics |
| 24924924 | Genetic variants in PVRL2-TOMM40-APOE region are associated with human longevity in a Han Chinese population. | Lu F et al. | 2014 | PloS one |
| 24931982 | GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. | Leslie R et al. | 2014 | Bioinformatics (Oxford, England) |
| 25005712 | Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans. | Chung SK et al. | 2014 | BMC complementary and alternative medicine |
| 25464127 | On the analysis of a repeated measure design in genome-wide association analysis. | Lee Y et al. | 2014 | International journal of environmental research and public health |
| 25478207 | Age-related macular degeneration: insights into inflammatory genes. | Cascella R et al. | 2014 | Journal of ophthalmology |
| 25552592 | Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. | Shetty PB et al. | 2015 | Circulation. Cardiovascular genetics |
| 25629512 | New loci and coding variants confer risk for age-related macular degeneration in East Asians. | Cheng CY et al. | 2015 | Nature communications |
| 25649863 | Identifying genetic interactions associated with late-onset Alzheimer's disease. | Floudas CS et al. | 2014 | BioData mining |
| 25685889 | Identification of common genetic variants controlling transcript isoform variation in human whole blood. | Zhang X et al. | 2015 | Nature genetics |
| 25869804 | GWAS for executive function and processing speed suggests involvement of the CADM2 gene. | Ibrahim-Verbaas CA et al. | 2016 | Molecular psychiatry |
| 26079503 | Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study. | Østergaard SD et al. | 2015 | PLoS medicine |
| 26374098 | CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation. | Wang L et al. | 2015 | Genome biology |
| 26375028 | Genetic Contribution of Variants near SORT1 and APOE on LDL Cholesterol Independent of Obesity in Children. | Breitling C et al. | 2015 | PloS one |
| 26677855 | Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity. | Fortney K et al. | 2015 | PLoS genetics |
| 26690388 | Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. | Tang CS et al. | 2015 | Nature communications |
| 26696135 | Regional heritability mapping method helps explain missing heritability of blood lipid traits in isolated populations. | Shirali M et al. | 2016 | Heredity |
| 26833246 | New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. | Lu Y et al. | 2016 | Nature communications |
| 26892960 | From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease. | Nurnberg ST et al. | 2016 | Circulation research |
| 26905813 | Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population. | Elouej S et al. | 2016 | Endocrine research |
| 26912274 | Novel loci and pathways significantly associated with longevity. | Zeng Y et al. | 2016 | Scientific reports |
| 27015805 | Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. | Pilling LC et al. | 2016 | Aging |
| 27046643 | Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). | Davies G et al. | 2016 | Molecular psychiatry |
| 27171109 | Diet Quality and Change in Blood Lipids during 16 Years of Follow-up and Their Interaction with Genetic Risk for Dyslipidemia. | Sonestedt E et al. | 2016 | Nutrients |
| 27189021 | Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility. | Cook JP et al. | 2016 | European journal of human genetics |
| 27257685 | Genetics of Unilateral and Bilateral Age-Related Macular Degeneration Severity Stages. | Schick T et al. | 2016 | PloS one |
| 27286809 | Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. | Ligthart S et al. | 2016 | BMC genomics |
| 27312935 | Genetics of Insulin Resistance and the Metabolic Syndrome. | Brown AE et al. | 2016 | Current cardiology reports |
| 27327646 | Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. | Prins BP et al. | 2016 | PLoS medicine |
| 27342221 | Selecting instruments for Mendelian randomization in the wake of genome-wide association studies. | Swerdlow DI et al. | 2016 | International journal of epidemiology |
| 27540764 | Assessment of the contribution of APOE gene variants to metabolic phenotypes associated with familial longevity at middle age. | Noordam R et al. | 2016 | Aging |
| 27655946 | Incorporating Functional Annotations for Fine-Mapping Causal Variants in a Bayesian Framework Using Summary Statistics. | Chen W et al. | 2016 | Genetics |
| 27707806 | Replication of Genome-Wide Association Study Findings of Longevity in White, African American, and Hispanic Women: The Women's Health Initiative. | Shadyab AH et al. | 2017 | The journals of gerontology. Series A, Biological sciences and medical sciences |
| 27775101 | Incorporating Concomitant Medications into Genome-Wide Analyses for the Study of Complex Disease and Drug Response. | Graham HT et al. | 2016 | Frontiers in genetics |
| 27805002 | Performance Metrics for Selecting Single Nucleotide Polymorphisms in Late-onset Alzheimer's Disease. | Chen YC et al. | 2016 | Scientific reports |
| 27943270 | A genetic risk score is significantly associated with statin therapy response in the elderly population. | Ciuculete DM et al. | 2017 | Clinical genetics |
| 28046027 | Genome-Wide Association Study Reveals Four Loci for Lipid Ratios in the Korean Population and the Constitutional Subgroup. | Kim T et al. | 2017 | PloS one |
| 28379035 | Polygenic hypercholesterolemia: examples of GWAS results and their replication in the Czech-Slavonic population. | Hubacek JA et al. | 2017 | Physiological research |
| 28486432 | Apolipoprotein C-I Polymorphism and Its Association with Serum Lipid Levels and Longevity in the Bama Population. | Li Y et al. | 2017 | International journal of environmental research and public health |
| 28577571 | Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. | Paththinige CS et al. | 2017 | Lipids in health and disease |
| 28666712 | The association between six genetic variants and blood lipid levels in pregnant Chinese Han women. | Nie M et al. | 2017 | Journal of clinical lipidology |
| 28732532 | GATE: an efficient procedure in study of pleiotropic genetic associations. | Zhang W et al. | 2017 | BMC genomics |
| 29321358 | Genetic variants influencing lipid levels and risk of dyslipidemia in Chinese population. | Luo H et al. | 2017 | Journal of genetics |
| 29390587 | Prospective association of a genetic risk score with major adverse cardiovascular events in patients with coronary artery disease. | Zhao C et al. | 2017 | Medicine |
| 29410832 | Prediction of cholesterol ratios within a Korean population. | Lee JS et al. | 2018 | Royal Society open science |
| 29636060 | Effects of apoC1 genotypes on the hormonal levels, metabolic profile and PAF-AH activity in Chinese women with polycystic ovary syndrome. | Zhang R et al. | 2018 | Lipids in health and disease |
| 29695241 | Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes. | Charmet R et al. | 2018 | Cardiovascular diabetology |
| 29942042 | A decade in psychiatric GWAS research. | Horwitz T et al. | 2019 | Molecular psychiatry |
| 30389371 | Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals. | Seddon JM et al. | 2019 | American journal of ophthalmology |
| 30443289 | Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients. | Prendecki M et al. | 2018 | Oncotarget |
| 31760383 | Genome-wide association study of hippocampal atrophy rate in non-demented elders. | Guo Y et al. | 2019 | Aging |
| 31819893 | Do age-related macular degeneration genes show association with keratoconus? | Cao K et al. | 2019 | Eye and vision (London, England) |
| 31915189 | Effects of acute sleep loss on diurnal plasma dynamics of CNS health biomarkers in young men. | Benedict C et al. | 2020 | Neurology |
| 31995593 | Causal relationships between lipid and glycemic levels in an Indian population: A bidirectional Mendelian randomization approach. | Agarwal T et al. | 2020 | PloS one |
| 32407518 | Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size. | Merle BMJ et al. | 2020 | Investigative ophthalmology & visual science |
| 32578437 | Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD. | Lee D et al. | 2021 | European journal of ophthalmology |
| 32619263 | [Analysis of rs4420638A/G and -317H1/H2 polymorphisms of APOC1 gene among Chinese patients with pre-eclampsia]. | Sun Y et al. | 2020 | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |
| 32779262 | A framework for pathway knowledge driven prioritization in genome-wide association studies. | Biswas S et al. | 2020 | Genetic epidemiology |
| 33163038 | Lack of association between genetic variants in the 19q13.32 region and CHD risk in the Algerian population: a population-based nested case-control study. | Boulenouar H et al. | 2020 | African health sciences |
| 33815092 | Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review. | Vogrinc D et al. | 2021 | Frontiers in aging neuroscience |
| 33935285 | Associations of genetic variants of lysophosphatidylcholine metabolic enzymes with levels of serum lipids. | Wang H et al. | 2022 | Pediatric research |
| 34025845 | Serum anti-inflammatory and inflammatory markers have no causal impact on telomere length: a Mendelian randomization study. | Mazidi M et al. | 2021 | Archives of medical science |
| 35124268 | Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. | Li J et al. | 2022 | Clinical gastroenterology and hepatology |
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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.