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)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
TMEM165 : Intron VariantCLOCK : 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.
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 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | A=0.773694 | 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 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 4 | NC_000004.12:g.55435202A>G |
GRCh37.p13 chr 4 | NC_000004.11:g.56301369A>G |
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 |
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 |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | A= | G |
---|---|---|
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 |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | 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) |
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) |
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) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.