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dbSNP Short Genetic Variations

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.

rs1685354

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr11:74002546 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.30437 (38219/125568, TOPMED)
G=0.2908 (8990/30918, GnomAD)
G=0.297 (1487/5008, 1000G) (+ 3 more)
G=0.248 (1109/4480, Estonian)
G=0.252 (971/3854, ALSPAC)
G=0.246 (912/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UCP3 : Intron Variant
Publications
3 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 11 NC_000011.10:g.74002546A>G
GRCh37.p13 chr 11 NC_000011.9:g.73713591A>G
UCP3 RefSeqGene NG_011515.1:g.11692T>C
Gene: UCP3, uncoupling protein 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UCP3 transcript variant long NM_003356.3:c. N/A Intron Variant
UCP3 transcript variant short NM_022803.2:c. N/A Genic 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.

Not Reported in ClinVar
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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.69563 G=0.30437
gnomAD - Genomes Global Study-wide 30918 A=0.7092 G=0.2908
gnomAD - Genomes European Sub 18476 A=0.7561 G=0.2439
gnomAD - Genomes African Sub 8700 A=0.580 G=0.420
gnomAD - Genomes East Asian Sub 1620 A=0.875 G=0.125
gnomAD - Genomes Other Sub 982 A=0.75 G=0.25
gnomAD - Genomes American Sub 838 A=0.63 G=0.37
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=0.75 G=0.25
1000Genomes Global Study-wide 5008 A=0.703 G=0.297
1000Genomes African Sub 1322 A=0.549 G=0.451
1000Genomes East Asian Sub 1008 A=0.842 G=0.158
1000Genomes Europe Sub 1006 A=0.753 G=0.247
1000Genomes South Asian Sub 978 A=0.77 G=0.23
1000Genomes American Sub 694 A=0.63 G=0.37
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.752 G=0.248
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.748 G=0.252
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.754 G=0.246
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 Note
GRCh38.p12 chr 11 NC_000011.10:g.74002546A= NC_000011.10:g.74002546A>G
GRCh37.p13 chr 11 NC_000011.9:g.73713591A= NC_000011.9:g.73713591A>G
UCP3 RefSeqGene NG_011515.1:g.11692T= NG_011515.1:g.11692T>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, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss2515269 Nov 09, 2000 (89)
2 BCM_SSAHASNP ss14155804 Dec 05, 2003 (119)
3 ABI ss40008605 Mar 13, 2006 (126)
4 AFFY ss66261343 Nov 30, 2006 (127)
5 AFFY ss76406417 Dec 08, 2007 (130)
6 KRIBB_YJKIM ss81568487 Dec 15, 2007 (130)
7 1000GENOMES ss110656737 Jan 25, 2009 (130)
8 1000GENOMES ss114786988 Jan 25, 2009 (130)
9 ILLUMINA ss160387347 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss168566014 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss170241638 Jul 04, 2010 (132)
12 AFFY ss173491987 Jul 04, 2010 (132)
13 BUSHMAN ss202878124 Jul 04, 2010 (132)
14 1000GENOMES ss225313209 Jul 14, 2010 (132)
15 1000GENOMES ss235611321 Jul 15, 2010 (132)
16 1000GENOMES ss242233358 Jul 15, 2010 (132)
17 ILLUMINA ss244280781 Jul 04, 2010 (132)
18 GMI ss281065274 May 04, 2012 (137)
19 ILLUMINA ss480077869 May 04, 2012 (137)
20 ILLUMINA ss480086619 May 04, 2012 (137)
21 ILLUMINA ss480766517 Sep 08, 2015 (146)
22 ILLUMINA ss484836784 May 04, 2012 (137)
23 ILLUMINA ss536910534 Sep 08, 2015 (146)
24 TISHKOFF ss562650336 Apr 25, 2013 (138)
25 SSMP ss658166066 Apr 25, 2013 (138)
26 ILLUMINA ss778817832 Sep 08, 2015 (146)
27 ILLUMINA ss782864956 Sep 08, 2015 (146)
28 ILLUMINA ss783829169 Sep 08, 2015 (146)
29 ILLUMINA ss832119039 Sep 08, 2015 (146)
30 ILLUMINA ss834278154 Sep 08, 2015 (146)
31 EVA-GONL ss988674651 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1077832678 Aug 21, 2014 (142)
33 1000GENOMES ss1341881375 Aug 21, 2014 (142)
34 HAMMER_LAB ss1397609026 Sep 08, 2015 (146)
35 DDI ss1426675554 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1575793141 Apr 01, 2015 (144)
37 EVA_DECODE ss1598335833 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1626893292 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1669887325 Apr 01, 2015 (144)
40 EVA_SVP ss1713264091 Apr 01, 2015 (144)
41 ILLUMINA ss1752031584 Sep 08, 2015 (146)
42 HAMMER_LAB ss1806876210 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1932032368 Feb 12, 2016 (147)
44 ILLUMINA ss1946316046 Feb 12, 2016 (147)
45 ILLUMINA ss1959365072 Feb 12, 2016 (147)
46 GENOMED ss1967391163 Jul 19, 2016 (147)
47 JJLAB ss2026760352 Sep 14, 2016 (149)
48 USC_VALOUEV ss2155071090 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2183534091 Dec 20, 2016 (150)
50 TOPMED ss2347020293 Dec 20, 2016 (150)
51 ILLUMINA ss2632850709 Nov 08, 2017 (151)
52 GRF ss2699365936 Nov 08, 2017 (151)
53 ILLUMINA ss2710739409 Nov 08, 2017 (151)
54 GNOMAD ss2901400143 Nov 08, 2017 (151)
55 SWEGEN ss3008345283 Nov 08, 2017 (151)
56 ILLUMINA ss3021352860 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3027177407 Nov 08, 2017 (151)
58 TOPMED ss3149363350 Nov 08, 2017 (151)
59 CSHL ss3349667164 Nov 08, 2017 (151)
60 ILLUMINA ss3625604125 Oct 12, 2018 (152)
61 ILLUMINA ss3626689975 Oct 12, 2018 (152)
62 ILLUMINA ss3630866757 Oct 12, 2018 (152)
63 ILLUMINA ss3632990061 Oct 12, 2018 (152)
64 ILLUMINA ss3633689638 Oct 12, 2018 (152)
65 ILLUMINA ss3634463079 Oct 12, 2018 (152)
66 ILLUMINA ss3635381152 Oct 12, 2018 (152)
67 ILLUMINA ss3636146290 Oct 12, 2018 (152)
68 ILLUMINA ss3637132024 Oct 12, 2018 (152)
69 ILLUMINA ss3640170418 Oct 12, 2018 (152)
70 ILLUMINA ss3644568863 Oct 12, 2018 (152)
71 ILLUMINA ss3651718368 Oct 12, 2018 (152)
72 1000Genomes NC_000011.9 - 73713591 Oct 12, 2018 (152)
73 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 73713591 Oct 12, 2018 (152)
74 Genetic variation in the Estonian population NC_000011.9 - 73713591 Oct 12, 2018 (152)
75 gnomAD - Genomes NC_000011.9 - 73713591 Oct 12, 2018 (152)
76 TopMed NC_000011.10 - 74002546 Oct 12, 2018 (152)
77 UK 10K study - Twins NC_000011.9 - 73713591 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)
rs56624787 May 25, 2008 (130)
rs59644746 Feb 27, 2009 (130)
rs386540927 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss110656737, ss114786988, ss168566014, ss170241638, ss202878124, ss244280781, ss281065274, ss480077869, ss1397609026, ss1598335833, ss1713264091 NC_000011.8:73391238:A= NC_000011.10:74002545:A= (self)
54424139, 30207915, 21402618, 35101665, 30207915, ss225313209, ss235611321, ss242233358, ss480086619, ss480766517, ss484836784, ss536910534, ss562650336, ss658166066, ss778817832, ss782864956, ss783829169, ss832119039, ss834278154, ss988674651, ss1077832678, ss1341881375, ss1426675554, ss1575793141, ss1626893292, ss1669887325, ss1752031584, ss1806876210, ss1932032368, ss1946316046, ss1959365072, ss1967391163, ss2026760352, ss2155071090, ss2347020293, ss2632850709, ss2699365936, ss2710739409, ss2901400143, ss3008345283, ss3021352860, ss3349667164, ss3625604125, ss3626689975, ss3630866757, ss3632990061, ss3633689638, ss3634463079, ss3635381152, ss3636146290, ss3637132024, ss3640170418, ss3644568863, ss3651718368 NC_000011.9:73713590:A= NC_000011.10:74002545:A= (self)
66556385, ss2183534091, ss3027177407, ss3149363350 NC_000011.10:74002545:A= NC_000011.10:74002545:A= (self)
ss14155804 NT_033927.6:3912619:A= NC_000011.10:74002545:A= (self)
ss2515269, ss40008605, ss66261343, ss76406417, ss81568487, ss160387347, ss173491987 NT_167190.1:19019385:A= NC_000011.10:74002545:A= (self)
ss110656737, ss114786988, ss168566014, ss170241638, ss202878124, ss244280781, ss281065274, ss480077869, ss1397609026, ss1598335833, ss1713264091 NC_000011.8:73391238:A>G NC_000011.10:74002545:A>G (self)
54424139, 30207915, 21402618, 35101665, 30207915, ss225313209, ss235611321, ss242233358, ss480086619, ss480766517, ss484836784, ss536910534, ss562650336, ss658166066, ss778817832, ss782864956, ss783829169, ss832119039, ss834278154, ss988674651, ss1077832678, ss1341881375, ss1426675554, ss1575793141, ss1626893292, ss1669887325, ss1752031584, ss1806876210, ss1932032368, ss1946316046, ss1959365072, ss1967391163, ss2026760352, ss2155071090, ss2347020293, ss2632850709, ss2699365936, ss2710739409, ss2901400143, ss3008345283, ss3021352860, ss3349667164, ss3625604125, ss3626689975, ss3630866757, ss3632990061, ss3633689638, ss3634463079, ss3635381152, ss3636146290, ss3637132024, ss3640170418, ss3644568863, ss3651718368 NC_000011.9:73713590:A>G NC_000011.10:74002545:A>G (self)
66556385, ss2183534091, ss3027177407, ss3149363350 NC_000011.10:74002545:A>G NC_000011.10:74002545:A>G (self)
ss14155804 NT_033927.6:3912619:A>G NC_000011.10:74002545:A>G (self)
ss2515269, ss40008605, ss66261343, ss76406417, ss81568487, ss160387347, ss173491987 NT_167190.1:19019385:A>G NC_000011.10:74002545: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.

3 citations for rs1685354
PMID Title Author Year Journal
18426825 Variations in the uncoupling protein-3 gene are associated with specific obesity phenotypes. van Abeelen AF et al. 2008 European journal of endocrinology
25951190 Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology. Drenos F et al. 2015 PloS one
26332421 Sirtuin/uncoupling protein gene variants and carotid plaque area and morphology. Dong C et al. 2015 International journal of stroke

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.post58+e54ea20