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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.

rs1801260

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:55435202 (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=0.226306 (59901/264690, TOPMED)
G=0.268097 (69998/261092, ALFA)
G=0.242754 (34006/140084, GnomAD) (+ 19 more)
G=0.20069 (15795/78702, PAGE_STUDY)
G=0.17093 (4830/28258, 14KJPN)
G=0.17208 (2884/16760, 8.3KJPN)
G=0.2278 (1459/6404, 1000G_30x)
G=0.2296 (1150/5008, 1000G)
G=0.3522 (1578/4480, Estonian)
G=0.2745 (1058/3854, ALSPAC)
G=0.2686 (996/3708, TWINSUK)
G=0.1013 (296/2922, KOREAN)
G=0.2257 (427/1892, HapMap)
G=0.270 (269/998, GoNL)
G=0.092 (73/790, PRJEB37584)
G=0.257 (154/600, NorthernSweden)
G=0.272 (145/534, MGP)
A=0.406 (95/234, SGDP_PRJ)
G=0.319 (69/216, Qatari)
G=0.088 (19/216, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.40 (8/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM165 : Intron Variant
CLOCK : 3 Prime UTR Variant
Publications
78 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 266222 A=0.732227 G=0.267773 0.537258 0.072804 0.389938 3
European Sub 232812 A=0.722914 G=0.277086 0.522568 0.07674 0.400692 0
African Sub 11746 A=0.82513 G=0.17487 0.682956 0.032692 0.284352 1
African Others Sub 434 A=0.818 G=0.182 0.668203 0.032258 0.299539 0
African American Sub 11312 A=0.82541 G=0.17459 0.683522 0.032709 0.283769 1
Asian Sub 3868 A=0.8958 G=0.1042 0.802482 0.010858 0.18666 0
East Asian Sub 3136 A=0.8980 G=0.1020 0.806122 0.010204 0.183673 0
Other Asian Sub 732 A=0.887 G=0.113 0.786885 0.013661 0.199454 0
Latin American 1 Sub 1042 A=0.7534 G=0.2466 0.566219 0.059501 0.37428 0
Latin American 2 Sub 6648 A=0.7677 G=0.2323 0.586643 0.051143 0.362214 1
South Asian Sub 368 A=0.633 G=0.367 0.396739 0.130435 0.472826 0
Other Sub 9738 A=0.7551 G=0.2449 0.575888 0.065722 0.35839 3


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=0.773694 G=0.226306
Allele Frequency Aggregator Total Global 261092 A=0.731903 G=0.268097
Allele Frequency Aggregator European Sub 229642 A=0.722895 G=0.277105
Allele Frequency Aggregator African Sub 10604 A=0.82724 G=0.17276
Allele Frequency Aggregator Other Sub 8920 A=0.7543 G=0.2457
Allele Frequency Aggregator Latin American 2 Sub 6648 A=0.7677 G=0.2323
Allele Frequency Aggregator Asian Sub 3868 A=0.8958 G=0.1042
Allele Frequency Aggregator Latin American 1 Sub 1042 A=0.7534 G=0.2466
Allele Frequency Aggregator South Asian Sub 368 A=0.633 G=0.367
gnomAD - Genomes Global Study-wide 140084 A=0.757246 G=0.242754
gnomAD - Genomes European Sub 75862 A=0.71028 G=0.28972
gnomAD - Genomes African Sub 41978 A=0.82736 G=0.17264
gnomAD - Genomes American Sub 13642 A=0.76572 G=0.23428
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.7633 G=0.2367
gnomAD - Genomes East Asian Sub 3130 A=0.9173 G=0.0827
gnomAD - Genomes Other Sub 2152 A=0.7495 G=0.2505
The PAGE Study Global Study-wide 78702 A=0.79931 G=0.20069
The PAGE Study AfricanAmerican Sub 32516 A=0.82476 G=0.17524
The PAGE Study Mexican Sub 10810 A=0.77502 G=0.22498
The PAGE Study Asian Sub 8318 A=0.8435 G=0.1565
The PAGE Study PuertoRican Sub 7918 A=0.7504 G=0.2496
The PAGE Study NativeHawaiian Sub 4534 A=0.7717 G=0.2283
The PAGE Study Cuban Sub 4230 A=0.7461 G=0.2539
The PAGE Study Dominican Sub 3828 A=0.8103 G=0.1897
The PAGE Study CentralAmerican Sub 2450 A=0.7914 G=0.2086
The PAGE Study SouthAmerican Sub 1982 A=0.8042 G=0.1958
The PAGE Study NativeAmerican Sub 1260 A=0.7373 G=0.2627
The PAGE Study SouthAsian Sub 856 A=0.624 G=0.376
14KJPN JAPANESE Study-wide 28258 A=0.82907 G=0.17093
8.3KJPN JAPANESE Study-wide 16760 A=0.82792 G=0.17208
1000Genomes_30x Global Study-wide 6404 A=0.7722 G=0.2278
1000Genomes_30x African Sub 1786 A=0.8438 G=0.1562
1000Genomes_30x Europe Sub 1266 A=0.7006 G=0.2994
1000Genomes_30x South Asian Sub 1202 A=0.6190 G=0.3810
1000Genomes_30x East Asian Sub 1170 A=0.9026 G=0.0974
1000Genomes_30x American Sub 980 A=0.766 G=0.234
1000Genomes Global Study-wide 5008 A=0.7704 G=0.2296
1000Genomes African Sub 1322 A=0.8480 G=0.1520
1000Genomes East Asian Sub 1008 A=0.8988 G=0.1012
1000Genomes Europe Sub 1006 A=0.6948 G=0.3052
1000Genomes South Asian Sub 978 A=0.617 G=0.383
1000Genomes American Sub 694 A=0.762 G=0.238
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6478 G=0.3522
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7255 G=0.2745
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7314 G=0.2686
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.8987 G=0.1013
HapMap Global Study-wide 1892 A=0.7743 G=0.2257
HapMap American Sub 770 A=0.747 G=0.253
HapMap African Sub 692 A=0.796 G=0.204
HapMap Asian Sub 254 A=0.835 G=0.165
HapMap Europe Sub 176 A=0.722 G=0.278
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.730 G=0.270
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.908 G=0.092
CNV burdens in cranial meningiomas CRM Sub 790 A=0.908 G=0.092
Northern Sweden ACPOP Study-wide 600 A=0.743 G=0.257
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.728 G=0.272
SGDP_PRJ Global Study-wide 234 A=0.406 G=0.594
Qatari Global Study-wide 216 A=0.681 G=0.319
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.912 G=0.088
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 20 A=0.40 G=0.60
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 4 NC_000004.12:g.55435202A>G
GRCh37.p13 chr 4 NC_000004.11:g.56301369A>G
Gene: CLOCK, clock circadian regulator (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CLOCK transcript variant 2 NM_004898.4:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant 1 NM_001267843.2:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X1 XM_005265787.3:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X2 XM_047416431.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X3 XM_017008854.2:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X4 XM_011534410.3:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X5 XM_011534411.3:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X6 XM_047416432.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X7 XM_024454284.2:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X8 XM_047416433.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X9 XM_047416434.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X10 XM_047416435.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X11 XM_047416436.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X12 XM_047416437.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X13 XM_047416438.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X14 XM_047416439.1:c.*213= N/A 3 Prime UTR Variant
CLOCK transcript variant X15 XM_047416440.1:c.*213= N/A 3 Prime UTR Variant
Gene: TMEM165, transmembrane protein 165 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM165 transcript variant 1 NM_018475.5:c. N/A Genic Downstream Transcript Variant
TMEM165 transcript variant 2 NR_073070.2:n. N/A Genic Downstream Transcript Variant
TMEM165 transcript variant X1 XM_011534394.4:c.898+1055…

XM_011534394.4:c.898+10559A>G

N/A Intron Variant
TMEM165 transcript variant X2 XM_017008412.2:c. N/A Genic Downstream Transcript Variant
TMEM165 transcript variant X3 XM_047415962.1: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

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 4 NC_000004.12:g.55435202= NC_000004.12:g.55435202A>G
GRCh37.p13 chr 4 NC_000004.11:g.56301369= NC_000004.11:g.56301369A>G
CLOCK transcript variant 2 NM_004898.4:c.*213= NM_004898.4:c.*213T>C
CLOCK transcript variant 2 NM_004898.3:c.*213= NM_004898.3:c.*213T>C
CLOCK transcript variant X1 XM_005265787.3:c.*213= XM_005265787.3:c.*213T>C
CLOCK transcript variant X1 XM_005265787.2:c.*213= XM_005265787.2:c.*213T>C
CLOCK transcript variant X1 XM_005265787.1:c.*213= XM_005265787.1:c.*213T>C
CLOCK transcript variant X5 XM_011534411.3:c.*213= XM_011534411.3:c.*213T>C
CLOCK transcript variant X6 XM_011534411.2:c.*213= XM_011534411.2:c.*213T>C
CLOCK transcript variant X5 XM_011534411.1:c.*213= XM_011534411.1:c.*213T>C
CLOCK transcript variant X4 XM_011534410.3:c.*213= XM_011534410.3:c.*213T>C
CLOCK transcript variant X5 XM_011534410.2:c.*213= XM_011534410.2:c.*213T>C
CLOCK transcript variant X4 XM_011534410.1:c.*213= XM_011534410.1:c.*213T>C
CLOCK transcript variant 1 NM_001267843.2:c.*213= NM_001267843.2:c.*213T>C
CLOCK transcript variant 1 NM_001267843.1:c.*213= NM_001267843.1:c.*213T>C
CLOCK transcript variant X7 XM_024454284.2:c.*213= XM_024454284.2:c.*213T>C
CLOCK transcript variant X3 XM_024454284.1:c.*213= XM_024454284.1:c.*213T>C
CLOCK transcript variant X3 XM_017008854.2:c.*213= XM_017008854.2:c.*213T>C
CLOCK transcript variant X4 XM_017008854.1:c.*213= XM_017008854.1:c.*213T>C
CLOCK transcript variant X9 XM_047416434.1:c.*213= XM_047416434.1:c.*213T>C
CLOCK transcript variant X8 XM_047416433.1:c.*213= XM_047416433.1:c.*213T>C
CLOCK transcript variant X12 XM_047416437.1:c.*213= XM_047416437.1:c.*213T>C
CLOCK transcript variant X11 XM_047416436.1:c.*213= XM_047416436.1:c.*213T>C
CLOCK transcript variant X13 XM_047416438.1:c.*213= XM_047416438.1:c.*213T>C
CLOCK transcript variant X2 XM_047416431.1:c.*213= XM_047416431.1:c.*213T>C
CLOCK transcript variant X10 XM_047416435.1:c.*213= XM_047416435.1:c.*213T>C
CLOCK transcript variant X14 XM_047416439.1:c.*213= XM_047416439.1:c.*213T>C
CLOCK transcript variant X6 XM_047416432.1:c.*213= XM_047416432.1:c.*213T>C
CLOCK transcript variant X15 XM_047416440.1:c.*213= XM_047416440.1:c.*213T>C
TMEM165 transcript variant X1 XM_011534394.4:c.898+10559= XM_011534394.4:c.898+10559A>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#.

125 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421499 Nov 14, 2000 (89)
2 TSC-CSHL ss3166126 Jun 15, 2001 (96)
3 YUSUKE ss4978976 Aug 28, 2002 (108)
4 SC_JCM ss5779715 Feb 20, 2003 (111)
5 PERLEGEN ss24395640 Sep 20, 2004 (123)
6 ILLUMINA ss75099580 Dec 06, 2007 (129)
7 HGSV ss84250913 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss92586465 Mar 24, 2008 (129)
9 BGI ss104067933 Dec 01, 2009 (131)
10 1000GENOMES ss112256617 Jan 25, 2009 (130)
11 1000GENOMES ss113066388 Jan 25, 2009 (130)
12 KRIBB_YJKIM ss119404009 Dec 01, 2009 (131)
13 ENSEMBL ss139616103 Dec 01, 2009 (131)
14 ILLUMINA ss160463013 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss163448686 Jul 04, 2010 (132)
16 ILLUMINA ss172925446 Jul 04, 2010 (132)
17 BUSHMAN ss198514453 Jul 04, 2010 (132)
18 1000GENOMES ss220920397 Jul 14, 2010 (132)
19 1000GENOMES ss232388893 Jul 14, 2010 (132)
20 1000GENOMES ss239682575 Jul 15, 2010 (132)
21 BL ss253139762 May 09, 2011 (134)
22 GMI ss277714526 May 04, 2012 (137)
23 GMI ss284907573 Apr 25, 2013 (138)
24 ILLUMINA ss480300960 May 04, 2012 (137)
25 ILLUMINA ss480312075 May 04, 2012 (137)
26 ILLUMINA ss481067847 Sep 08, 2015 (146)
27 ILLUMINA ss484948293 May 04, 2012 (137)
28 ILLUMINA ss536992446 Sep 08, 2015 (146)
29 TISHKOFF ss557511015 Apr 25, 2013 (138)
30 SSMP ss651306815 Apr 25, 2013 (138)
31 ILLUMINA ss778467825 Sep 08, 2015 (146)
32 ILLUMINA ss782920454 Sep 08, 2015 (146)
33 ILLUMINA ss783883481 Sep 08, 2015 (146)
34 ILLUMINA ss832175581 Sep 08, 2015 (146)
35 ILLUMINA ss833923584 Sep 08, 2015 (146)
36 EVA-GONL ss980104164 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1071529075 Aug 21, 2014 (142)
38 1000GENOMES ss1309702368 Aug 21, 2014 (142)
39 DDI ss1429879986 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1580551690 Apr 01, 2015 (144)
41 EVA_DECODE ss1589602185 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1610069443 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1653063476 Apr 01, 2015 (144)
44 EVA_MGP ss1711059908 Apr 01, 2015 (144)
45 EVA_SVP ss1712672620 Apr 01, 2015 (144)
46 ILLUMINA ss1752525681 Sep 08, 2015 (146)
47 HAMMER_LAB ss1801434672 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1923343319 Feb 12, 2016 (147)
49 ILLUMINA ss1946116224 Feb 12, 2016 (147)
50 ILLUMINA ss1958683635 Feb 12, 2016 (147)
51 GENOMED ss1969737751 Jul 19, 2016 (147)
52 JJLAB ss2022255489 Sep 14, 2016 (149)
53 USC_VALOUEV ss2150380650 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2262881040 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2625626908 Nov 08, 2017 (151)
56 ILLUMINA ss2634119022 Nov 08, 2017 (151)
57 GRF ss2705845496 Nov 08, 2017 (151)
58 ILLUMINA ss2711005044 Nov 08, 2017 (151)
59 GNOMAD ss2809213614 Nov 08, 2017 (151)
60 AFFY ss2985292386 Nov 08, 2017 (151)
61 AFFY ss2985915317 Nov 08, 2017 (151)
62 SWEGEN ss2994686870 Nov 08, 2017 (151)
63 ILLUMINA ss3022373609 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3024898765 Nov 08, 2017 (151)
65 CSHL ss3345710104 Nov 08, 2017 (151)
66 ILLUMINA ss3625843654 Oct 12, 2018 (152)
67 ILLUMINA ss3628964733 Oct 12, 2018 (152)
68 ILLUMINA ss3632055753 Oct 12, 2018 (152)
69 ILLUMINA ss3633334805 Oct 12, 2018 (152)
70 ILLUMINA ss3634053783 Oct 12, 2018 (152)
71 ILLUMINA ss3634952167 Oct 12, 2018 (152)
72 ILLUMINA ss3635736718 Oct 12, 2018 (152)
73 ILLUMINA ss3636655094 Oct 12, 2018 (152)
74 ILLUMINA ss3637489232 Oct 12, 2018 (152)
75 ILLUMINA ss3638486537 Oct 12, 2018 (152)
76 ILLUMINA ss3640659463 Oct 12, 2018 (152)
77 ILLUMINA ss3643437925 Oct 12, 2018 (152)
78 ILLUMINA ss3644848994 Oct 12, 2018 (152)
79 OMUKHERJEE_ADBS ss3646307631 Oct 12, 2018 (152)
80 ILLUMINA ss3652858266 Oct 12, 2018 (152)
81 ILLUMINA ss3654063336 Oct 12, 2018 (152)
82 EGCUT_WGS ss3662572383 Jul 13, 2019 (153)
83 EVA_DECODE ss3712036275 Jul 13, 2019 (153)
84 ILLUMINA ss3726133299 Jul 13, 2019 (153)
85 ACPOP ss3731140298 Jul 13, 2019 (153)
86 ILLUMINA ss3744234439 Jul 13, 2019 (153)
87 ILLUMINA ss3745252428 Jul 13, 2019 (153)
88 EVA ss3761786838 Jul 13, 2019 (153)
89 PAGE_CC ss3771124507 Jul 13, 2019 (153)
90 ILLUMINA ss3772747082 Jul 13, 2019 (153)
91 PACBIO ss3784711600 Jul 13, 2019 (153)
92 PACBIO ss3790169590 Jul 13, 2019 (153)
93 PACBIO ss3795044696 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3804922570 Jul 13, 2019 (153)
95 EVA ss3825657360 Apr 26, 2020 (154)
96 EVA ss3828534155 Apr 26, 2020 (154)
97 EVA ss3837704490 Apr 26, 2020 (154)
98 EVA ss3843140602 Apr 26, 2020 (154)
99 SGDP_PRJ ss3858928484 Apr 26, 2020 (154)
100 KRGDB ss3905166171 Apr 26, 2020 (154)
101 FSA-LAB ss3984283535 Apr 26, 2021 (155)
102 FSA-LAB ss3984283536 Apr 26, 2021 (155)
103 EVA ss3984528029 Apr 26, 2021 (155)
104 EVA ss4017145954 Apr 26, 2021 (155)
105 TOPMED ss4613591907 Apr 26, 2021 (155)
106 TOMMO_GENOMICS ss5165678949 Apr 26, 2021 (155)
107 1000G_HIGH_COVERAGE ss5259171207 Oct 13, 2022 (156)
108 EVA ss5314957830 Oct 13, 2022 (156)
109 EVA ss5348955897 Oct 13, 2022 (156)
110 HUGCELL_USP ss5457935677 Oct 13, 2022 (156)
111 EVA ss5507509043 Oct 13, 2022 (156)
112 1000G_HIGH_COVERAGE ss5540223500 Oct 13, 2022 (156)
113 SANFORD_IMAGENETICS ss5624555601 Oct 13, 2022 (156)
114 SANFORD_IMAGENETICS ss5635010811 Oct 13, 2022 (156)
115 TOMMO_GENOMICS ss5700013603 Oct 13, 2022 (156)
116 EVA ss5799615088 Oct 13, 2022 (156)
117 YY_MCH ss5805075303 Oct 13, 2022 (156)
118 EVA ss5843985279 Oct 13, 2022 (156)
119 EVA ss5847243085 Oct 13, 2022 (156)
120 EVA ss5848010379 Oct 13, 2022 (156)
121 EVA ss5854216929 Oct 13, 2022 (156)
122 EVA ss5863408537 Oct 13, 2022 (156)
123 EVA ss5963385342 Oct 13, 2022 (156)
124 EVA ss5979700152 Oct 13, 2022 (156)
125 EVA ss5980224277 Oct 13, 2022 (156)
126 1000Genomes NC_000004.11 - 56301369 Oct 12, 2018 (152)
127 1000Genomes_30x NC_000004.12 - 55435202 Oct 13, 2022 (156)
128 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 56301369 Oct 12, 2018 (152)
129 Genetic variation in the Estonian population NC_000004.11 - 56301369 Oct 12, 2018 (152)
130 The Danish reference pan genome NC_000004.11 - 56301369 Apr 26, 2020 (154)
131 gnomAD - Genomes NC_000004.12 - 55435202 Apr 26, 2021 (155)
132 Genome of the Netherlands Release 5 NC_000004.11 - 56301369 Apr 26, 2020 (154)
133 HapMap NC_000004.12 - 55435202 Apr 26, 2020 (154)
134 KOREAN population from KRGDB NC_000004.11 - 56301369 Apr 26, 2020 (154)
135 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 56301369 Apr 26, 2020 (154)
136 Northern Sweden NC_000004.11 - 56301369 Jul 13, 2019 (153)
137 The PAGE Study NC_000004.12 - 55435202 Jul 13, 2019 (153)
138 CNV burdens in cranial meningiomas NC_000004.11 - 56301369 Apr 26, 2021 (155)
139 Qatari NC_000004.11 - 56301369 Apr 26, 2020 (154)
140 SGDP_PRJ NC_000004.11 - 56301369 Apr 26, 2020 (154)
141 Siberian NC_000004.11 - 56301369 Apr 26, 2020 (154)
142 8.3KJPN NC_000004.11 - 56301369 Apr 26, 2021 (155)
143 14KJPN NC_000004.12 - 55435202 Oct 13, 2022 (156)
144 TopMed NC_000004.12 - 55435202 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000004.11 - 56301369 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000004.11 - 56301369 Jul 13, 2019 (153)
147 ALFA NC_000004.12 - 55435202 Apr 26, 2021 (155)
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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)
rs3792602 Oct 09, 2002 (108)
rs17720939 Oct 07, 2004 (123)
rs60881643 May 26, 2008 (130)
rs386545625 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84250913 NC_000004.9:56142296:A:G NC_000004.12:55435201:A:G (self)
ss92586465, ss112256617, ss113066388, ss160463013, ss163448686, ss198514453, ss253139762, ss277714526, ss284907573, ss480300960, ss1589602185, ss1712672620, ss3643437925 NC_000004.10:55996125:A:G NC_000004.12:55435201:A:G (self)
21096245, 11740991, 8310631, 6716629, 5176606, 12343565, 175668, 4425163, 77389, 5385249, 10945464, 2897004, 23648256, 11740991, 2577923, ss220920397, ss232388893, ss239682575, ss480312075, ss481067847, ss484948293, ss536992446, ss557511015, ss651306815, ss778467825, ss782920454, ss783883481, ss832175581, ss833923584, ss980104164, ss1071529075, ss1309702368, ss1429879986, ss1580551690, ss1610069443, ss1653063476, ss1711059908, ss1752525681, ss1801434672, ss1923343319, ss1946116224, ss1958683635, ss1969737751, ss2022255489, ss2150380650, ss2625626908, ss2634119022, ss2705845496, ss2711005044, ss2809213614, ss2985292386, ss2985915317, ss2994686870, ss3022373609, ss3345710104, ss3625843654, ss3628964733, ss3632055753, ss3633334805, ss3634053783, ss3634952167, ss3635736718, ss3636655094, ss3637489232, ss3638486537, ss3640659463, ss3644848994, ss3646307631, ss3652858266, ss3654063336, ss3662572383, ss3731140298, ss3744234439, ss3745252428, ss3761786838, ss3772747082, ss3784711600, ss3790169590, ss3795044696, ss3825657360, ss3828534155, ss3837704490, ss3858928484, ss3905166171, ss3984283535, ss3984283536, ss3984528029, ss4017145954, ss5165678949, ss5314957830, ss5348955897, ss5507509043, ss5624555601, ss5635010811, ss5799615088, ss5843985279, ss5847243085, ss5848010379, ss5963385342, ss5979700152, ss5980224277 NC_000004.11:56301368:A:G NC_000004.12:55435201:A:G (self)
27749435, 149529889, 2614111, 345976, 33850707, 450969463, 6729869383, ss2262881040, ss3024898765, ss3712036275, ss3726133299, ss3771124507, ss3804922570, ss3843140602, ss4613591907, ss5259171207, ss5457935677, ss5540223500, ss5700013603, ss5805075303, ss5854216929, ss5863408537 NC_000004.12:55435201:A:G NC_000004.12:55435201:A:G (self)
ss2421499, ss3166126, ss4978976, ss5779715, ss24395640, ss75099580, ss104067933, ss119404009, ss139616103, ss172925446 NT_022853.15:3641251:A:G NC_000004.12:55435201:A:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

78 citations for rs1801260
PMID Title Author Year Journal
17221848 Actimetric evidence that CLOCK 3111 T/C SNP influences sleep and activity patterns in patients affected by bipolar depression. Benedetti F et al. 2007 American journal of medical genetics. Part B, Neuropsychiatric genetics
17428266 Clock genes beyond the clock: CLOCK genotype biases neural correlates of moral valence decision in depressed patients. Benedetti F et al. 2008 Genes, brain, and behavior
17948273 A polymorphism at the 3'-untranslated region of the CLOCK gene is associated with adult attention-deficit hyperactivity disorder. Kissling C et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
18071340 Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man. Scott EM et al. 2008 International journal of obesity (2005)
18228528 Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Shi J et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
18663240 Genetic differences in human circadian clock genes among worldwide populations. Ciarleglio CM et al. 2008 Journal of biological rhythms
18957941 Genome-wide association scan for five major dimensions of personality. Terracciano A et al. 2010 Molecular psychiatry
19166596 Circadian polymorphisms associated with affective disorders. Kripke DF et al. 2009 Journal of circadian rhythms
19846548 CLOCK genetic variation and metabolic syndrome risk: modulation by monounsaturated fatty acids. Garaulet M et al. 2009 The American journal of clinical nutrition
19888304 Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population). Garaulet M et al. 2010 European journal of human genetics
20065968 CLOCK gene is implicated in weight reduction in obese patients participating in a dietary programme based on the Mediterranean diet. Garaulet M et al. 2010 International journal of obesity (2005)
20072116 Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. Soria V et al. 2010 Neuropsychopharmacology
20124474 CLOCK in breast tumorigenesis: genetic, epigenetic, and transcriptional profiling analyses. Hoffman AE et al. 2010 Cancer research
20180986 CLOCK is suggested to associate with comorbid alcohol use and depressive disorders. Sjöholm LK et al. 2010 Journal of circadian rhythms
20364331 The association of CLOCK gene T3111C polymorphism and hPER3 gene 54-nucleotide repeat polymorphism with Chinese Han people schizophrenics. Zhang J et al. 2011 Molecular biology reports
20368993 ARNTL (BMAL1) and NPAS2 gene variants contribute to fertility and seasonality. Kovanen L et al. 2010 PloS one
20396431 Genotyping sleep disorders patients. Kripke DF et al. 2010 Psychiatry investigation
20567242 The chronobiology, etiology and pathophysiology of obesity. Garaulet M et al. 2010 International journal of obesity (2005)
20600471 Association between CLOCK 3111T/C and preferred circadian phase in Korean patients with bipolar disorder. Lee KY et al. 2010 Progress in neuro-psychopharmacology & biological psychiatry
20961464 The association of the Clock 3111 T/C SNP with lipids and lipoproteins including small dense low-density lipoprotein: results from the Mima study. Tsuzaki K et al. 2010 BMC medical genetics
21773969 Functional polymorphisms of circadian positive feedback regulation genes and clinical outcome of Chinese patients with resected colorectal cancer. Zhou F et al. 2012 Cancer
21781277 Functional genetic variation in the Rev-Erbα pathway and lithium response in the treatment of bipolar disorder. McCarthy MJ et al. 2011 Genes, brain, and behavior
22105624 The genetics of attention deficit/hyperactivity disorder in adults, a review. Franke B et al. 2012 Molecular psychiatry
22310473 SIRT1 and CLOCK 3111T> C combined genotype is associated with evening preference and weight loss resistance in a behavioral therapy treatment for obesity. Garaulet M et al. 2012 International journal of obesity (2005)
23131019 Physical activity and sex modulate obesity risk linked to 3111T/C gene variant of the CLOCK gene in an elderly population: the SUN Project. Galbete C et al. 2012 Chronobiology international
23768840 Genetic polymorphisms in the aryl hydrocarbon receptor-signaling pathway and sleep disturbances in middle-aged women. Ziv-Gal A et al. 2013 Sleep medicine
23808549 Candidate gene associations with withdrawn behavior. Rubin DH et al. 2013 Journal of child psychology and psychiatry, and allied disciplines
24037774 Association of the clock genes polymorphisms with colorectal cancer susceptibility. Karantanos T et al. 2013 Journal of surgical oncology
24068320 Human CLOCK gene-associated attention deficit hyperactivity disorder-related features in healthy adults: quantitative association study using Wender Utah Rating Scale. Jeong SH et al. 2014 European archives of psychiatry and clinical neuroscience
24328727 Beneficial effect of CLOCK gene polymorphism rs1801260 in combination with low-fat diet on insulin metabolism in the patients with metabolic syndrome. Garcia-Rios A et al. 2014 Chronobiology international
24510388 Circadian rhythm of homocysteine is hCLOCK genotype dependent. Paul B et al. 2014 Molecular biology reports
24764655 Genetic variations in colorectal cancer risk and clinical outcome. Zhang K et al. 2014 World journal of gastroenterology
24824748 Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphisms in schizophrenia. Jung JS et al. 2014 Chronobiology international
24892753 PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy. Santos B et al. 2014 Epilepsy & behavior
25020710
25089907 REV-ERB ALPHA polymorphism is associated with obesity in the Spanish obese male population. Ruano EG et al. 2014 PloS one
25201053 Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningness-eveningness preference and circadian rhythm sleep disorder. Hida A et al. 2014 Scientific reports
25258123 Clock gene variants differentiate mood disorders. Dmitrzak-Weglarz MP et al. 2015 Molecular biology reports
25309987 Clock gene modulates roles of OXTR and AVPR1b genes in prosociality. Ci H et al. 2014 PloS one
26084345 Gene-Environment Interactions of Circadian-Related Genes for Cardiometabolic Traits. Dashti HS et al. 2015 Diabetes care
26134245 Association of CLOCK, ARNTL, and NPAS2 gene polymorphisms and seasonal variations in mood and behavior. Kim HI et al. 2015 Chronobiology international
26181468 Variants of the CLOCK gene affect the risk of idiopathic male infertility in the Han-Chinese population. Shen O et al. 2015 Chronobiology international
26204460 Effects of CLOCK gene variants and early stress on hopelessness and suicide in bipolar depression. Benedetti F et al. 2015 Chronobiology international
26346429 Chronic consumption of a low-fat diet improves cardiometabolic risk factors according to the CLOCK gene in patients with coronary heart disease. Gomez-Delgado F et al. 2015 Molecular nutrition & food research
26374515 Variant of the clock circadian regulator (CLOCK) gene and related haplotypes are associated with the prevalence of type 2 diabetes in the Japanese population. Uemura H et al. 2016 Journal of diabetes
26553137 Association between genetic variants of the clock gene and obesity and sleep duration. Valladares M et al. 2015 Journal of physiology and biochemistry
26706567 Daily Eating Patterns and Their Impact on Health and Disease. Zarrinpar A et al. 2016 Trends in endocrinology and metabolism
26739996 CLOCK gene variation is associated with incidence of type-2 diabetes and cardiovascular diseases in type-2 diabetic subjects: dietary modulation in the PREDIMED randomized trial. Corella D et al. 2016 Cardiovascular diabetology
26926884 Molecular analyses of circadian gene variants reveal sex-dependent links between depression and clocks. Shi SQ et al. 2016 Translational psychiatry
26927084 Nutrigenetics and Nutrimiromics of the Circadian System: The Time for Human Health. Micó V et al. 2016 International journal of molecular sciences
26977390 Interdependence of nutrient metabolism and the circadian clock system: Importance for metabolic health. Ribas-Latre A et al. 2016 Molecular metabolism
27089360 Nutritional Genomics and the Mediterranean Diet's Effects on Human Cardiovascular Health. Fitó M et al. 2016 Nutrients
27313610 Evidences of Polymorphism Associated with Circadian System and Risk of Pathologies: A Review of the Literature. Valenzuela FJ et al. 2016 International journal of endocrinology
27660894 Association of CLOCK, ARNTL, PER2, and GNB3 polymorphisms with diurnal preference in a Korean population. Song HM et al. 2016 Chronobiology international
27666868 Gender effects of single nucleotide polymorphisms and miRNAs targeting clock-genes in metastatic colorectal cancer patients (mCRC). Garufi C et al. 2016 Scientific reports
27821618 Diurnal Blood Pressure Rhythmicity in Relation to Environmental and Genetic Cues in Untreated Referred Patients. Sheng CS et al. 2017 Hypertension (Dallas, Tex.
27895820 Sleep, circadian dysrhythmia, obesity and diabetes. Sridhar GR et al. 2016 World journal of diabetes
27992853 CLOCK gene variants associated with the discrepancy between subjective and objective severity in bipolar depression. Suzuki M et al. 2017 Journal of affective disorders
27996307 Clock genes associate with white matter integrity in depressed bipolar patients. Bollettini I et al. 2017 Chronobiology international
28466652 A genetic CLOCK variant associated with cluster headache causing increased mRNA levels. Fourier C et al. 2018 Cephalalgia
28645331 Circadian CLOCK gene polymorphisms in relation to sleep patterns and obesity in African Americans: findings from the Jackson heart study. Riestra P et al. 2017 BMC genetics
28780642 CLOCK rs1801260 Polymorphism is Associated with Susceptibility to Parkinson's Disease in a Chinese Population. Lou F et al. 2017 Neuroscience bulletin
30518396 Associations of clock genes polymorphisms with soft tissue sarcoma susceptibility and prognosis. Benna C et al. 2018 Journal of translational medicine
30696097 CLOCK Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD. Carpena MX et al. 2019 Genes
30728411 CLOCK gene polymorphisms and quality of aging in a cohort of nonagenarians - The MUGELLO Study. Pagliai G et al. 2019 Scientific reports
31739444 Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility. Lesicka M et al. 2019 International journal of molecular sciences
32061680 Rhythm and blues: Influence of CLOCK T3111C on peripheral electrophysiological indicators of negative affective processing. Armbruster D et al. 2020 Physiology & behavior
32737280 Effects of Occupational Stress and Circadian CLOCK Gene Polymorphism on Sleep Quality of Oil Workers in Xinjiang, China. Ning L et al. 2020 Medical science monitor
32785234 Sex modifies the association between the CLOCK variant rs1801260 and BMI in school-age children. Meng Y et al. 2020 PloS one
34068889 CLOCK Gene Variation Is Associated with the Incidence of Metabolic Syndrome Modulated by Monounsaturated Fatty Acids. Shin D et al. 2021 Journal of personalized medicine
34112033 For whom the circadian clock ticks? Investigation of PERIOD and CLOCK gene variants in bipolar disorder. Yegin Z et al. 2021 Chronobiology international
34117726 The association of polymorphisms in related circadian rhythm genes and clopidogrel resistance susceptibility. Su J et al. 2021 Basic & clinical pharmacology & toxicology
34141862 Common genetic variation in circadian clock genes are associated with cardiovascular risk factors in an African American and Hispanic/Latino cohort. Salazar P et al. 2021 International journal of cardiology. Heart & vasculature
34309832 Gene polymorphism association studies in cluster headache: A field synopsis and systematic meta-analyses. Cargnin S et al. 2021 Headache
35053018 The Association between Circadian Clock Gene Polymorphisms and Metabolic Syndrome: A Systematic Review and Meta-Analysis. Škrlec I et al. 2021 Biology
35437765 No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta-analysis. Cui J et al. 2022 Annals of human genetics
35961261 Circadian clock gene variants and their link with chronotype, chrononutrition, sleeping patterns and obesity in the European prospective investigation into cancer and nutrition (EPIC) study. Molina-Montes E et al. 2022 Clinical nutrition (Edinburgh, Scotland)
36079729 Influence of CLOCK Gene Variants on Weight Response after Bariatric Surgery. Torrego-Ellacuría M et al. 2022 Nutrients
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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.post820+afb47a3d