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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)
G=0.48270 (13640/28258, 14KJPN)
G=0.48544 (8136/16760, 8.3KJPN)
G=0.4802 (3075/6404, 1000G_30x)
G=0.4798 (2403/5008, 1000G)
A=0.4736 (2121/4478, Estonian)
G=0.4764 (1836/3854, ALSPAC)
G=0.4711 (1747/3708, TWINSUK)
A=0.4488 (1315/2930, KOREAN)
G=0.4989 (938/1880, HapMap)
A=0.4241 (777/1832, Korea1K)
G=0.3858 (436/1130, Daghestan)
G=0.490 (489/998, GoNL)
G=0.411 (257/626, Chileans)
G=0.460 (276/600, NorthernSweden)
A=0.317 (130/410, SGDP_PRJ)
G=0.352 (76/216, Qatari)
G=0.427 (88/206, Vietnamese)
G=0.44 (32/72, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
A=0.36 (13/36, Siberian)
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.

Release Version: 20230706150541
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


Help

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=0.513763 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
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.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
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.

Not Reported in ClinVar
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 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
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#.

96 SubSNP, 23 Frequency submissions
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)
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)
rs58117437 May 24, 2008 (130)
rs59946910 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
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)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

39 citations for rs17321515
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
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
Top 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.

Software version is: 2.0.1.post761+d5e8e07