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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.

rs1800592

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr4:140572807 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.413433 (51914/125568, TOPMED)
T=0.47249 (37185/78700, PAGE_STUDY)
C=0.38810 (12170/31358, GnomAD) (+ 13 more)
C=0.4683 (2345/5008, 1000G)
C=0.2828 (1267/4480, Estonian)
C=0.2649 (1021/3854, ALSPAC)
C=0.2850 (1086/3810, ALFA Project)
C=0.2500 (927/3708, TWINSUK)
C=0.4857 (1423/2930, KOREAN)
C=0.240 (240/998, GoNL)
C=0.222 (133/600, NorthernSweden)
T=0.318 (117/368, SGDP_PRJ)
C=0.310 (67/216, Qatari)
T=0.468 (101/216, Vietnamese)
C=0.30 (12/40, GENOME_DK)
T=0.44 (15/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
15 citations
Genomic View
See rs on genome
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.p12 chr 4 NC_000004.12:g.140572807T>A
GRCh38.p12 chr 4 NC_000004.12:g.140572807T>C
GRCh38.p12 chr 4 NC_000004.12:g.140572807T>G
GRCh37.p13 chr 4 NC_000004.11:g.141493961T>A
GRCh37.p13 chr 4 NC_000004.11:g.141493961T>C
GRCh37.p13 chr 4 NC_000004.11:g.141493961T>G
UCP1 RefSeqGene NG_012139.1:g.999A>T
UCP1 RefSeqGene NG_012139.1:g.999A>G
UCP1 RefSeqGene NG_012139.1:g.999A>C
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

ALFA Allele Frequency (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 3810 T=0.7150 C=0.2850
European Sub 3370 T=0.7439 C=0.2561
African Sub 168 T=0.333 C=0.667
African Others Sub 10 T=0.4 C=0.6
African American Sub 158 T=0.329 C=0.671
Asian Sub 46 T=0.54 C=0.46
East Asian Sub 44 T=0.55 C=0.45
Other Asian Sub 2 T=0.5 C=0.5
Latin American 1 Sub 2 T=0.0 C=1.0
Latin American 2 Sub 12 T=0.75 C=0.25
South Asian Sub 10 T=0.2 C=0.8
Other Sub 202 T=0.619 C=0.381


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 125568 T=0.586567 C=0.413433
The PAGE Study Global Study-wide 78700 T=0.47249 C=0.52751
The PAGE Study AfricanAmerican Sub 32514 T=0.35151 C=0.64849
The PAGE Study Mexican Sub 10810 T=0.56142 C=0.43858
The PAGE Study Asian Sub 8318 T=0.5078 C=0.4922
The PAGE Study PuertoRican Sub 7918 T=0.6076 C=0.3924
The PAGE Study NativeHawaiian Sub 4534 T=0.4806 C=0.5194
The PAGE Study Cuban Sub 4230 T=0.6650 C=0.3350
The PAGE Study Dominican Sub 3828 T=0.5394 C=0.4606
The PAGE Study CentralAmerican Sub 2450 T=0.4931 C=0.5069
The PAGE Study SouthAmerican Sub 1982 T=0.5232 C=0.4768
The PAGE Study NativeAmerican Sub 1260 T=0.6452 C=0.3548
The PAGE Study SouthAsian Sub 856 T=0.627 C=0.373
gnomAD - Genomes Global Study-wide 31358 T=0.61190 C=0.38810
gnomAD - Genomes European Sub 18886 T=0.74711 C=0.25289
gnomAD - Genomes African Sub 8690 T=0.3292 C=0.6708
gnomAD - Genomes East Asian Sub 1560 T=0.4910 C=0.5090
gnomAD - Genomes Other Sub 1086 T=0.6878 C=0.3122
gnomAD - Genomes American Sub 846 T=0.602 C=0.398
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.672 C=0.328
1000Genomes Global Study-wide 5008 T=0.5317 C=0.4683
1000Genomes African Sub 1322 T=0.2655 C=0.7345
1000Genomes East Asian Sub 1008 T=0.5347 C=0.4653
1000Genomes Europe Sub 1006 T=0.7634 C=0.2366
1000Genomes South Asian Sub 978 T=0.606 C=0.394
1000Genomes American Sub 694 T=0.594 C=0.406
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7172 C=0.2828
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7351 C=0.2649
ALFA Total Global 3810 T=0.7150 C=0.2850
ALFA European Sub 3370 T=0.7439 C=0.2561
ALFA Other Sub 202 T=0.619 C=0.381
ALFA African Sub 168 T=0.333 C=0.667
ALFA Asian Sub 46 T=0.54 C=0.46
ALFA Latin American 2 Sub 12 T=0.75 C=0.25
ALFA South Asian Sub 10 T=0.2 C=0.8
ALFA Latin American 1 Sub 2 T=0.0 C=1.0
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7500 C=0.2500
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5143 A=0.0000, C=0.4857, G=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.760 C=0.240
Northern Sweden ACPOP Study-wide 600 T=0.778 C=0.222
SGDP_PRJ Global Study-wide 368 T=0.318 C=0.682
Qatari Global Study-wide 216 T=0.690 C=0.310
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.468 C=0.532
The Danish reference pan genome Danish Study-wide 40 T=0.70 C=0.30
Siberian Global Study-wide 34 T=0.44 C=0.56
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 T= A C G
GRCh38.p12 chr 4 NC_000004.12:g.140572807= NC_000004.12:g.140572807T>A NC_000004.12:g.140572807T>C NC_000004.12:g.140572807T>G
GRCh37.p13 chr 4 NC_000004.11:g.141493961= NC_000004.11:g.141493961T>A NC_000004.11:g.141493961T>C NC_000004.11:g.141493961T>G
UCP1 RefSeqGene NG_012139.1:g.999= NG_012139.1:g.999A>T NG_012139.1:g.999A>G NG_012139.1:g.999A>C
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#.

71 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420701 Nov 14, 2000 (89)
2 WI_SSAHASNP ss11642597 Jul 11, 2003 (116)
3 PERLEGEN ss24222120 Sep 20, 2004 (123)
4 HGSV ss78168503 Dec 06, 2007 (129)
5 HGSV ss78774410 Dec 06, 2007 (129)
6 HGSV ss84878234 Dec 14, 2007 (130)
7 BGI ss105869396 Feb 04, 2009 (130)
8 1000GENOMES ss108402920 Jan 23, 2009 (130)
9 1000GENOMES ss110702870 Jan 25, 2009 (130)
10 ILLUMINA-UK ss117214935 Feb 14, 2009 (130)
11 GMI ss157988442 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss164548262 Jul 04, 2010 (132)
13 BUSHMAN ss199267247 Jul 04, 2010 (132)
14 1000GENOMES ss221254157 Jul 14, 2010 (132)
15 1000GENOMES ss232630176 Jul 14, 2010 (132)
16 1000GENOMES ss239870614 Jul 15, 2010 (132)
17 GMI ss277963866 May 04, 2012 (137)
18 GMI ss285020096 Apr 25, 2013 (138)
19 PJP ss293203208 May 09, 2011 (134)
20 ILLUMINA ss479574564 May 04, 2012 (137)
21 ILLUMINA ss484710676 May 04, 2012 (137)
22 ILLUMINA ss533101895 Sep 08, 2015 (146)
23 TISHKOFF ss557902916 Apr 25, 2013 (138)
24 SSMP ss651721107 Apr 25, 2013 (138)
25 ILLUMINA ss779612122 Sep 08, 2015 (146)
26 ILLUMINA ss781015451 Sep 08, 2015 (146)
27 ILLUMINA ss835084348 Sep 08, 2015 (146)
28 EVA-GONL ss980760451 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1072019667 Aug 21, 2014 (142)
30 1000GENOMES ss1312118876 Aug 21, 2014 (142)
31 DDI ss1430074479 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1580810136 Apr 01, 2015 (144)
33 EVA_DECODE ss1590272571 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1611332165 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1654326198 Apr 01, 2015 (144)
36 HAMMER_LAB ss1802306438 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1924001504 Feb 12, 2016 (147)
38 ILLUMINA ss1958725456 Feb 12, 2016 (147)
39 GENOMED ss1969889942 Jul 19, 2016 (147)
40 JJLAB ss2022588169 Sep 14, 2016 (149)
41 USC_VALOUEV ss2150719785 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2267774235 Dec 20, 2016 (150)
43 TOPMED ss2435672433 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2625790657 Nov 08, 2017 (151)
45 ILLUMINA ss2634186480 Nov 08, 2017 (151)
46 GRF ss2706211264 Nov 08, 2017 (151)
47 GNOMAD ss2816129217 Nov 08, 2017 (151)
48 SWEGEN ss2995681078 Nov 08, 2017 (151)
49 ILLUMINA ss3022421146 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3025071376 Nov 08, 2017 (151)
51 CSHL ss3345998958 Nov 08, 2017 (151)
52 TOPMED ss3444767147 Nov 08, 2017 (151)
53 ILLUMINA ss3629080306 Oct 12, 2018 (152)
54 ILLUMINA ss3632118694 Oct 12, 2018 (152)
55 ILLUMINA ss3642368516 Oct 12, 2018 (152)
56 ILLUMINA ss3652911163 Oct 12, 2018 (152)
57 EGCUT_WGS ss3663589143 Jul 13, 2019 (153)
58 EVA_DECODE ss3713210397 Jul 13, 2019 (153)
59 ILLUMINA ss3726176183 Jul 13, 2019 (153)
60 ACPOP ss3731677333 Jul 13, 2019 (153)
61 EVA ss3762505344 Jul 13, 2019 (153)
62 PAGE_CC ss3771157812 Jul 13, 2019 (153)
63 PACBIO ss3784883601 Jul 13, 2019 (153)
64 PACBIO ss3790316801 Jul 13, 2019 (153)
65 PACBIO ss3795192319 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3805665437 Jul 13, 2019 (153)
67 EVA ss3828849476 Apr 26, 2020 (154)
68 EVA ss3837873372 Apr 26, 2020 (154)
69 EVA ss3843313224 Apr 26, 2020 (154)
70 SGDP_PRJ ss3860218056 Apr 26, 2020 (154)
71 KRGDB ss3906545512 Apr 26, 2020 (154)
72 1000Genomes NC_000004.11 - 141493961 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 141493961 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000004.11 - 141493961 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000004.11 - 141493961 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000004.11 - 141493961 Jul 13, 2019 (153)
77 Genome of the Netherlands Release 5 NC_000004.11 - 141493961 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000004.11 - 141493961 Apr 26, 2020 (154)
79 Northern Sweden NC_000004.11 - 141493961 Jul 13, 2019 (153)
80 The PAGE Study NC_000004.12 - 140572807 Jul 13, 2019 (153)
81 Qatari NC_000004.11 - 141493961 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000004.11 - 141493961 Apr 26, 2020 (154)
83 Siberian NC_000004.11 - 141493961 Apr 26, 2020 (154)
84 TopMed NC_000004.12 - 140572807 Oct 12, 2018 (152)
85 UK 10K study - Twins NC_000004.11 - 141493961 Oct 12, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000004.11 - 141493961 Jul 13, 2019 (153)
87 dbGaP Population Frequency Project NC_000004.12 - 140572807 Apr 26, 2020 (154)
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)
rs17292686 Oct 07, 2004 (123)
rs57389161 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13722906, ss3906545512 NC_000004.11:141493960:T:A NC_000004.12:140572806:T:A
ss78168503, ss78774410, ss84878234 NC_000004.9:141851565:T:C NC_000004.12:140572806:T:C (self)
ss108402920, ss110702870, ss117214935, ss164548262, ss199267247, ss277963866, ss285020096, ss293203208, ss484710676, ss1590272571 NC_000004.10:141713410:T:C NC_000004.12:140572806:T:C (self)
23606068, 13127945, 9327391, 6975075, 64518191, 5816217, 13722906, 4962198, 6043434, 12235036, 3236139, 13127945, 2897113, ss221254157, ss232630176, ss239870614, ss479574564, ss533101895, ss557902916, ss651721107, ss779612122, ss781015451, ss835084348, ss980760451, ss1072019667, ss1312118876, ss1430074479, ss1580810136, ss1611332165, ss1654326198, ss1802306438, ss1924001504, ss1958725456, ss1969889942, ss2022588169, ss2150719785, ss2435672433, ss2625790657, ss2634186480, ss2706211264, ss2816129217, ss2995681078, ss3022421146, ss3345998958, ss3629080306, ss3632118694, ss3642368516, ss3652911163, ss3663589143, ss3731677333, ss3762505344, ss3784883601, ss3790316801, ss3795192319, ss3828849476, ss3837873372, ss3860218056, ss3906545512 NC_000004.11:141493960:T:C NC_000004.12:140572806:T:C (self)
379281, 295092152, 295997846, ss2267774235, ss3025071376, ss3444767147, ss3713210397, ss3726176183, ss3771157812, ss3805665437, ss3843313224 NC_000004.12:140572806:T:C NC_000004.12:140572806:T:C (self)
ss2420701, ss24222120, ss105869396, ss157988442 NT_016354.19:66041681:T:C NC_000004.12:140572806:T:C (self)
ss11642597 NT_016606.15:3013625:T:C NC_000004.12:140572806:T:C (self)
13722906, ss3906545512 NC_000004.11:141493960:T:G NC_000004.12:140572806:T:G
Help

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

15 citations for rs1800592
PMID Title Author Year Journal
16338218 Association of the -112A>C polymorphism of the uncoupling protein 1 gene with insulin resistance in Japanese individuals with type 2 diabetes. Fukuyama K et al. 2006 Biochemical and biophysical research communications
19076691 A UCP1-412A>C polymorphism is associated with abdominal fat area in Korean women. Cha MH et al. 2008 Hereditas
19736300 Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. Mori M et al. 2009 The Journal of physiology
23043591 Association of the UCP-1 single nucleotide polymorphism A-3826G with the dampness-phlegm pattern among Korean stroke patients. Lim JH et al. 2012 BMC complementary and alternative medicine
24138564 The presence of at least three alleles of the ADRB3 Trp64Arg (C/T) and UCP1 -3826A/G polymorphisms is associated with protection to overweight/obesity and with higher high-density lipoprotein cholesterol levels in Caucasian-Brazilian patients with type 2 diabetes. Brondani LA et al. 2014 Metabolic syndrome and related disorders
24804925 Meta-analysis reveals the association of common variants in the uncoupling protein (UCP) 1-3 genes with body mass index variability. Brondani LA et al. 2014 PloS one
25274455 The gene polymorphisms of UCP1 but not PPAR γ and TCF7L2 are associated with diabetic retinopathy in Chinese type 2 diabetes mellitus cases. Zhang Y et al. 2015 Acta ophthalmologica
25368670 CardioGxE, a catalog of gene-environment interactions for cardiometabolic traits. Parnell LD et al. 2014 BioData mining
25646961 Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study. Nakatochi M et al. 2015 PloS one
26458326 UCP1 -3826 A>G polymorphism affects weight, fat mass, and risk of type 2 diabetes mellitus in grade III obese patients. Nicoletti CF et al. 2016 Nutrition (Burbank, Los Angeles County, Calif.)
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
27730450 Candidate gene studies of diabetic retinopathy in human. Priščáková P et al. 2016 Molecular biology reports
27806373 The Genetic Predisposition Score of Seven Obesity-Related Single Nucleotide Polymorphisms Is Associated with Better Metabolic Outcomes after Roux-en-Y Gastric Bypass. Nicoletti CF et al. 2016 Journal of nutrigenetics and nutrigenomics
30458724 Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study. Chathoth S et al. 2018 BMC medical genetics
30518806 Association of uncoupling protein gene polymorphisms with essential hypertension in a northeastern Han Chinese population. Sun H et al. 2019 Journal of human hypertension
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.post536+f5d31d6