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.
rs17321515
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:125474167 (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 / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.486237 (128702/264690, TOPMED)G=0.489496 (68503/139946, GnomAD)G=0.47466 (35406/74592, ALFA) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
None
- Publications
- 39 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 74686 | A=0.52552 | G=0.47448 |
European | Sub | 52302 | A=0.52640 | G=0.47360 |
African | Sub | 8446 | A=0.4441 | G=0.5559 |
African Others | Sub | 286 | A=0.430 | G=0.570 |
African American | Sub | 8160 | A=0.4446 | G=0.5554 |
Asian | Sub | 502 | A=0.482 | G=0.518 |
East Asian | Sub | 402 | A=0.473 | G=0.527 |
Other Asian | Sub | 100 | A=0.52 | G=0.48 |
Latin American 1 | Sub | 738 | A=0.508 | G=0.492 |
Latin American 2 | Sub | 7128 | A=0.5922 | G=0.4078 |
South Asian | Sub | 192 | A=0.615 | G=0.385 |
Other | Sub | 5378 | A=0.5597 | G=0.4403 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | A=0.513763 | G=0.486237 |
gnomAD - Genomes | Global | Study-wide | 139946 | A=0.510504 | G=0.489496 |
gnomAD - Genomes | European | Sub | 75804 | A=0.52245 | G=0.47755 |
gnomAD - Genomes | African | Sub | 41908 | A=0.44772 | G=0.55228 |
gnomAD - Genomes | American | Sub | 13642 | A=0.61135 | G=0.38865 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.6355 | G=0.3645 |
gnomAD - Genomes | East Asian | Sub | 3122 | A=0.4763 | G=0.5237 |
gnomAD - Genomes | Other | Sub | 2150 | A=0.5298 | G=0.4702 |
Allele Frequency Aggregator | Total | Global | 74592 | A=0.52534 | G=0.47466 |
Allele Frequency Aggregator | European | Sub | 52226 | A=0.52619 | G=0.47381 |
Allele Frequency Aggregator | African | Sub | 8446 | A=0.4441 | G=0.5559 |
Allele Frequency Aggregator | Latin American 2 | Sub | 7128 | A=0.5922 | G=0.4078 |
Allele Frequency Aggregator | Other | Sub | 5360 | A=0.5593 | G=0.4407 |
Allele Frequency Aggregator | Latin American 1 | Sub | 738 | A=0.508 | G=0.492 |
Allele Frequency Aggregator | Asian | Sub | 502 | A=0.482 | G=0.518 |
Allele Frequency Aggregator | South Asian | Sub | 192 | A=0.615 | G=0.385 |
14KJPN | JAPANESE | Study-wide | 28258 | A=0.51730 | G=0.48270 |
8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.51456 | G=0.48544 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.5198 | G=0.4802 |
1000Genomes_30x | African | Sub | 1786 | A=0.4468 | G=0.5532 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.5498 | G=0.4502 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.6473 | G=0.3527 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.4470 | G=0.5530 |
1000Genomes_30x | American | Sub | 980 | A=0.545 | G=0.455 |
1000Genomes | Global | Study-wide | 5008 | A=0.5202 | G=0.4798 |
1000Genomes | African | Sub | 1322 | A=0.4546 | G=0.5454 |
1000Genomes | East Asian | Sub | 1008 | A=0.4484 | G=0.5516 |
1000Genomes | Europe | Sub | 1006 | A=0.5408 | G=0.4592 |
1000Genomes | South Asian | Sub | 978 | A=0.649 | G=0.351 |
1000Genomes | American | Sub | 694 | A=0.537 | G=0.463 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4478 | A=0.4736 | G=0.5264 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.5236 | G=0.4764 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.5289 | G=0.4711 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.4488 | G=0.5512, T=0.0000 |
HapMap | Global | Study-wide | 1880 | A=0.5011 | G=0.4989 |
HapMap | American | Sub | 764 | A=0.543 | G=0.457 |
HapMap | African | Sub | 688 | A=0.481 | G=0.519 |
HapMap | Asian | Sub | 252 | A=0.448 | G=0.552 |
HapMap | Europe | Sub | 176 | A=0.472 | G=0.528 |
Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.4241 | G=0.5759 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1130 | A=0.6142 | G=0.3858 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=0.607 | G=0.393 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 142 | A=0.592 | G=0.408 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 118 | A=0.619 | G=0.381 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.556 | G=0.444 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.76 | G=0.24 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.61 | G=0.39 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.510 | G=0.490 |
Chileans | Chilean | Study-wide | 626 | A=0.589 | G=0.411 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.540 | G=0.460 |
SGDP_PRJ | Global | Study-wide | 410 | A=0.317 | G=0.683 |
Qatari | Global | Study-wide | 216 | A=0.648 | G=0.352 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 206 | A=0.573 | G=0.427 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 72 | A=0.56 | G=0.44 |
The Danish reference pan genome | Danish | Study-wide | 40 | A=0.53 | G=0.47 |
Siberian | Global | Study-wide | 36 | A=0.36 | G=0.64 |
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.125474167A>G |
GRCh38.p14 chr 8 | NC_000008.11:g.125474167A>T |
GRCh37.p13 chr 8 | NC_000008.10:g.126486409A>G |
GRCh37.p13 chr 8 | NC_000008.10:g.126486409A>T |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | A= | G | T |
---|---|---|---|
GRCh38.p14 chr 8 | NC_000008.11:g.125474167= | NC_000008.11:g.125474167A>G | NC_000008.11:g.125474167A>T |
GRCh37.p13 chr 8 | NC_000008.10:g.126486409= | NC_000008.10:g.126486409A>G | NC_000008.10:g.126486409A>T |
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 | PERLEGEN | ss24537889 | Sep 20, 2004 (123) |
2 | AFFY | ss66327009 | Dec 03, 2006 (127) |
3 | AFFY | ss76020830 | Dec 07, 2007 (129) |
4 | HGSV | ss78919556 | Dec 07, 2007 (129) |
5 | KRIBB_YJKIM | ss83236064 | Dec 15, 2007 (130) |
6 | HGSV | ss83355308 | Dec 14, 2007 (130) |
7 | BCMHGSC_JDW | ss93964115 | Mar 25, 2008 (129) |
8 | BGI | ss104573393 | Dec 01, 2009 (131) |
9 | RSG_JCVI | ss107931969 | Feb 04, 2009 (130) |
10 | 1000GENOMES | ss108377199 | Jan 23, 2009 (130) |
11 | 1000GENOMES | ss113734691 | Jan 25, 2009 (130) |
12 | ILLUMINA-UK | ss116179085 | Feb 14, 2009 (130) |
13 | GMI | ss156868322 | Dec 01, 2009 (131) |
14 | ILLUMINA | ss160439512 | Dec 01, 2009 (131) |
15 | COMPLETE_GENOMICS | ss162773889 | Jul 04, 2010 (132) |
16 | COMPLETE_GENOMICS | ss165692468 | Jul 04, 2010 (132) |
17 | COMPLETE_GENOMICS | ss167112111 | Jul 04, 2010 (132) |
18 | AFFY | ss170509493 | Jul 04, 2010 (132) |
19 | PAGE_STUDY | ss181835704 | Jul 04, 2010 (132) |
20 | BUSHMAN | ss199753199 | Jul 04, 2010 (132) |
21 | BCM-HGSC-SUB | ss208695749 | Jul 04, 2010 (132) |
22 | 1000GENOMES | ss223969978 | Jul 14, 2010 (132) |
23 | 1000GENOMES | ss234621512 | Jul 15, 2010 (132) |
24 | 1000GENOMES | ss241436642 | Jul 15, 2010 (132) |
25 | ILLUMINA | ss244283461 | Jul 04, 2010 (132) |
26 | GMI | ss279997952 | May 04, 2012 (137) |
27 | GMI | ss285922304 | Apr 25, 2013 (138) |
28 | PJP | ss294180528 | May 09, 2011 (134) |
29 | ILLUMINA | ss480974243 | Sep 08, 2015 (146) |
30 | ILLUMINA | ss483202274 | May 04, 2012 (137) |
31 | ILLUMINA | ss485537824 | May 04, 2012 (137) |
32 | EXOME_CHIP | ss491417084 | May 04, 2012 (137) |
33 | ILLUMINA | ss535422301 | Sep 08, 2015 (146) |
34 | TISHKOFF | ss561059566 | Apr 25, 2013 (138) |
35 | SSMP | ss655494742 | Apr 25, 2013 (138) |
36 | ILLUMINA | ss779406888 | Aug 21, 2014 (142) |
37 | ILLUMINA | ss782044438 | Aug 21, 2014 (142) |
38 | ILLUMINA | ss834875874 | Aug 21, 2014 (142) |
39 | EVA-GONL | ss986041182 | Aug 21, 2014 (142) |
40 | JMKIDD_LAB | ss1075905091 | Aug 21, 2014 (142) |
41 | 1000GENOMES | ss1331851984 | Aug 21, 2014 (142) |
42 | HAMMER_LAB | ss1397538996 | Sep 08, 2015 (146) |
43 | DDI | ss1431665973 | Apr 01, 2015 (144) |
44 | EVA_GENOME_DK | ss1582879674 | Apr 01, 2015 (144) |
45 | EVA_DECODE | ss1595656883 | Apr 01, 2015 (144) |
46 | EVA_UK10K_ALSPAC | ss1621696487 | Apr 01, 2015 (144) |
47 | EVA_UK10K_TWINSUK | ss1664690520 | Apr 01, 2015 (144) |
48 | EVA_SVP | ss1713069805 | Apr 01, 2015 (144) |
49 | HAMMER_LAB | ss1805754254 | Sep 08, 2015 (146) |
50 | WEILL_CORNELL_DGM | ss1929313584 | Feb 12, 2016 (147) |
51 | GENOMED | ss1971090102 | Jul 19, 2016 (147) |
52 | JJLAB | ss2025360534 | Sep 14, 2016 (149) |
53 | ILLUMINA | ss2094834290 | Dec 20, 2016 (150) |
54 | USC_VALOUEV | ss2153589261 | Dec 20, 2016 (150) |
55 | HUMAN_LONGEVITY | ss2307257170 | Dec 20, 2016 (150) |
56 | SYSTEMSBIOZJU | ss2627154936 | Nov 08, 2017 (151) |
57 | ILLUMINA | ss2634801665 | Nov 08, 2017 (151) |
58 | GRF | ss2709375143 | Nov 08, 2017 (151) |
59 | GNOMAD | ss2872536254 | Nov 08, 2017 (151) |
60 | AFFY | ss2985448400 | Nov 08, 2017 (151) |
61 | AFFY | ss2986092223 | Nov 08, 2017 (151) |
62 | SWEGEN | ss3003974486 | Nov 08, 2017 (151) |
63 | BIOINF_KMB_FNS_UNIBA | ss3026465723 | Nov 08, 2017 (151) |
64 | CSHL | ss3348397910 | Nov 08, 2017 (151) |
65 | ILLUMINA | ss3630155590 | Oct 12, 2018 (152) |
66 | ILLUMINA | ss3632698011 | Oct 12, 2018 (152) |
67 | ILLUMINA | ss3636930366 | Oct 12, 2018 (152) |
68 | ILLUMINA | ss3654211892 | Oct 12, 2018 (152) |
69 | EGCUT_WGS | ss3671696719 | Jul 13, 2019 (153) |
70 | EVA_DECODE | ss3722978416 | Jul 13, 2019 (153) |
71 | ACPOP | ss3736088235 | Jul 13, 2019 (153) |
72 | EVA | ss3768590123 | Jul 13, 2019 (153) |
73 | PACBIO | ss3786275497 | Jul 13, 2019 (153) |
74 | PACBIO | ss3791509217 | Jul 13, 2019 (153) |
75 | PACBIO | ss3796390750 | Jul 13, 2019 (153) |
76 | KHV_HUMAN_GENOMES | ss3811756104 | Jul 13, 2019 (153) |
77 | EVA | ss3831406801 | Apr 26, 2020 (154) |
78 | EVA | ss3839212398 | Apr 26, 2020 (154) |
79 | EVA | ss3844672780 | Apr 26, 2020 (154) |
80 | SGDP_PRJ | ss3870963429 | Apr 26, 2020 (154) |
81 | KRGDB | ss3918563401 | Apr 26, 2020 (154) |
82 | KOGIC | ss3964814924 | Apr 26, 2020 (154) |
83 | EVA | ss3985388025 | Apr 26, 2021 (155) |
84 | TOPMED | ss4803727708 | Apr 26, 2021 (155) |
85 | TOMMO_GENOMICS | ss5190934212 | Apr 26, 2021 (155) |
86 | 1000G_HIGH_COVERAGE | ss5278889358 | Oct 16, 2022 (156) |
87 | EVA | ss5384362496 | Oct 16, 2022 (156) |
88 | HUGCELL_USP | ss5475277037 | Oct 16, 2022 (156) |
89 | 1000G_HIGH_COVERAGE | ss5570195889 | Oct 16, 2022 (156) |
90 | SANFORD_IMAGENETICS | ss5646384013 | Oct 16, 2022 (156) |
91 | TOMMO_GENOMICS | ss5733640776 | Oct 16, 2022 (156) |
92 | YY_MCH | ss5810121391 | Oct 16, 2022 (156) |
93 | EVA | ss5831203544 | Oct 16, 2022 (156) |
94 | EVA | ss5856566009 | Oct 16, 2022 (156) |
95 | EVA | ss5890968600 | Oct 16, 2022 (156) |
96 | EVA | ss5975633873 | Oct 16, 2022 (156) |
97 | 1000Genomes | NC_000008.10 - 126486409 | Oct 12, 2018 (152) |
98 | 1000Genomes_30x | NC_000008.11 - 125474167 | Oct 16, 2022 (156) |
99 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 126486409 | Oct 12, 2018 (152) |
100 | Chileans | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
101 | Genome-wide autozygosity in Daghestan | NC_000008.9 - 126555591 | Apr 26, 2020 (154) |
102 | Genetic variation in the Estonian population | NC_000008.10 - 126486409 | Oct 12, 2018 (152) |
103 | The Danish reference pan genome | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
104 | gnomAD - Genomes | NC_000008.11 - 125474167 | Apr 26, 2021 (155) |
105 | Genome of the Netherlands Release 5 | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
106 | HapMap | NC_000008.11 - 125474167 | Apr 26, 2020 (154) |
107 | KOREAN population from KRGDB | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
108 | Korean Genome Project | NC_000008.11 - 125474167 | Apr 26, 2020 (154) |
109 | Northern Sweden | NC_000008.10 - 126486409 | Jul 13, 2019 (153) |
110 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000008.10 - 126486409 | Apr 26, 2021 (155) |
111 | Qatari | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
112 | SGDP_PRJ | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
113 | Siberian | NC_000008.10 - 126486409 | Apr 26, 2020 (154) |
114 | 8.3KJPN | NC_000008.10 - 126486409 | Apr 26, 2021 (155) |
115 | 14KJPN | NC_000008.11 - 125474167 | Oct 16, 2022 (156) |
116 | TopMed | NC_000008.11 - 125474167 | Apr 26, 2021 (155) |
117 | UK 10K study - Twins | NC_000008.10 - 126486409 | Oct 12, 2018 (152) |
118 | A Vietnamese Genetic Variation Database | NC_000008.10 - 126486409 | Jul 13, 2019 (153) |
119 | ALFA | NC_000008.11 - 125474167 | Apr 26, 2021 (155) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Associated ID | History Updated (Build) |
---|---|
rs58117437 | May 24, 2008 (130) |
rs59946910 | Feb 26, 2009 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
512640, ss78919556, ss83355308, ss93964115, ss108377199, ss113734691, ss116179085, ss160439512, ss162773889, ss165692468, ss167112111, ss199753199, ss208695749, ss279997952, ss285922304, ss294180528, ss485537824, ss1397538996, ss1595656883, ss1713069805 | NC_000008.9:126555590:A:G | NC_000008.11:125474166:A:G | (self) |
44049453, 24507918, 446511, 17434967, 9044611, 10937265, 25740795, 9373100, 613952, 11355514, 22980409, 6105615, 48903519, 24507918, 5444669, ss223969978, ss234621512, ss241436642, ss480974243, ss483202274, ss491417084, ss535422301, ss561059566, ss655494742, ss779406888, ss782044438, ss834875874, ss986041182, ss1075905091, ss1331851984, ss1431665973, ss1582879674, ss1621696487, ss1664690520, ss1805754254, ss1929313584, ss1971090102, ss2025360534, ss2094834290, ss2153589261, ss2627154936, ss2634801665, ss2709375143, ss2872536254, ss2985448400, ss2986092223, ss3003974486, ss3348397910, ss3630155590, ss3632698011, ss3636930366, ss3654211892, ss3671696719, ss3736088235, ss3768590123, ss3786275497, ss3791509217, ss3796390750, ss3831406801, ss3839212398, ss3870963429, ss3918563401, ss3985388025, ss5190934212, ss5384362496, ss5646384013, ss5831203544, ss5975633873 | NC_000008.10:126486408:A:G | NC_000008.11:125474166:A:G | (self) |
57721824, 310743940, 3721767, 21192925, 67477880, 641105268, 6131049954, ss2307257170, ss3026465723, ss3722978416, ss3811756104, ss3844672780, ss3964814924, ss4803727708, ss5278889358, ss5475277037, ss5570195889, ss5733640776, ss5810121391, ss5856566009, ss5890968600 | NC_000008.11:125474166:A:G | NC_000008.11:125474166:A:G | (self) |
ss24537889, ss66327009, ss76020830, ss83236064, ss104573393, ss107931969, ss156868322, ss170509493, ss181835704, ss244283461 | NT_008046.16:39759957:A:G | NC_000008.11:125474166:A:G | (self) |
25740795, ss3918563401 | NC_000008.10:126486408:A:T | NC_000008.11:125474166:A:T | (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 |
---|---|---|---|---|
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 |
18596051 | Polygenic determinants of severe hypertriglyceridemia. | Wang J et al. | 2008 | Human molecular genetics |
18852197 | Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. | Mohlke KL et al. | 2008 | Human molecular genetics |
18987386 | Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population. | Tai ES et al. | 2009 | Journal of lipid research |
19060910 | Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. | Sabatti C et al. | 2009 | Nature genetics |
19060911 | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. | Aulchenko YS et al. | 2009 | Nature genetics |
19185284 | Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. | Ferrucci L et al. | 2009 | American journal of human genetics |
19197348 | Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. | Lowe JK et al. | 2009 | PLoS genetics |
19304782 | Admixture mapping of quantitative trait loci for blood lipids in African-Americans. | Basu A et al. | 2009 | Human molecular genetics |
19435741 | Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. | Murray A et al. | 2009 | European heart journal |
19656773 | A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. | Hegele RA et al. | 2009 | Human molecular genetics |
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 |
20570916 | Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. | Keebler ME et al. | 2010 | Circulation. Cardiovascular genetics |
20692138 | Polymorphism at the TRIB1 gene modulates plasma lipid levels: insight from the Spanish familial hypercholesterolemia cohort study. | Garcia-Rios A et al. | 2011 | Nutrition, metabolism, and cardiovascular diseases |
20972250 | Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. | Park MH et al. | 2011 | Journal of medical genetics |
21288825 | Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. | Lubomirov R et al. | 2011 | The Journal of infectious diseases |
21297524 | The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations. | Devaney JM et al. | 2011 | Pediatric research |
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 |
21691831 | Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke. | Járomi L et al. | 2011 | Neuromolecular medicine |
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 |
21966275 | Large-scale gene-centric analysis identifies novel variants for coronary artery disease. | 2011 | PLoS genetics | |
22110658 | Genetic variants at newly identified lipid loci are associated with coronary heart disease in a Chinese Han population. | Zhou L et al. | 2011 | PloS one |
22145581 | Association of the TRIB1 tribbles homolog 1 gene rs17321515 A>G polymorphism and serum lipid levels in the Mulao and Han populations. | Aung LH et al. | 2011 | Lipids in health and disease |
22425169 | Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol. | Shirts BH et al. | 2012 | Atherosclerosis |
22479202 | Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. | Dastani Z et al. | 2012 | PLoS genetics |
22646906 | Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations. | Miao L et al. | 2012 | Lipids in health and disease |
22655090 | ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels. | Li Q et al. | 2012 | PloS one |
22832862 | TRIB1 constitutes a molecular link between regulation of sleep and lipid metabolism in humans. | Ollila HM et al. | 2012 | Translational psychiatry |
23192668 | Genetic analysis of 16 NMR-lipoprotein fractions in humans, the GOLDN study. | Kraja AT et al. | 2013 | Lipids |
24178511 | Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip. | Gaunt TR et al. | 2013 | Thrombosis and haemostasis |
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 |
25573592 | Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations. | Sumegi K et al. | 2015 | Pathology oncology research |
25986010 | Association study of genetic variants at newly identified lipid gene TRIB1 with coronary heart disease in Chinese Han population. | Wang L et al. | 2015 | Lipids in health and disease |
28577571 | Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. | Paththinige CS et al. | 2017 | Lipids in health and disease |
30851741 | TRIB1 rs17321515 and rs2954029 gene polymorphisms increase the risk of non-alcoholic fatty liver disease in Chinese Han population. | Liu Q et al. | 2019 | Lipids in health and disease |
31250580 | Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study. | Zhao TY et al. | 2019 | Yonsei medical journal |
31470861 | TRIB1 rs17321515 gene polymorphism increases the risk of coronary heart disease in general population and non-alcoholic fatty liver disease patients in Chinese Han population. | Liu Q et al. | 2019 | Lipids in health and disease |
32370221 | Interaction between Coffee Drinking and TRIB1 rs17321515 Single Nucleotide Polymorphism on Coronary Heart Disease in a Taiwanese Population. | Liu YT et al. | 2020 | Nutrients |
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.