Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs881

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:75049302 (GRCh38.p13) 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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.191292 (50633/264690, TOPMED)
G=0.180837 (25344/140148, GnomAD)
G=0.18175 (3647/20066, ALFA) (+ 17 more)
G=0.19594 (3284/16760, 8.3KJPN)
G=0.2220 (1112/5008, 1000G)
G=0.1906 (854/4480, Estonian)
G=0.1873 (722/3854, ALSPAC)
G=0.1839 (682/3708, TWINSUK)
G=0.1908 (559/2930, KOREAN)
G=0.1882 (356/1892, HapMap)
G=0.2664 (301/1130, Daghestan)
G=0.160 (160/998, GoNL)
G=0.204 (158/776, PRJEB37584)
G=0.095 (57/600, NorthernSweden)
G=0.184 (98/534, MGP)
C=0.390 (85/218, SGDP_PRJ)
G=0.162 (35/216, Qatari)
G=0.125 (27/216, Vietnamese)
G=0.17 (7/40, GENOME_DK)
C=0.36 (5/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TACR1 : 3 Prime UTR Variant
Publications
5 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.p13 chr 2 NC_000002.12:g.75049302C>G
GRCh37.p13 chr 2 NC_000002.11:g.75276429C>G
TACR1 RefSeqGene NG_029522.1:g.155217G>C
Gene: TACR1, tachykinin receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TACR1 transcript variant long NM_001058.4:c.*130= N/A 3 Prime UTR Variant
TACR1 transcript variant short NM_015727.3: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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 20066 C=0.81825 G=0.18175
European Sub 15434 C=0.82415 G=0.17585
African Sub 2946 C=0.8123 G=0.1877
African Others Sub 114 C=0.825 G=0.175
African American Sub 2832 C=0.8118 G=0.1882
Asian Sub 112 C=0.857 G=0.143
East Asian Sub 86 C=0.83 G=0.17
Other Asian Sub 26 C=0.96 G=0.04
Latin American 1 Sub 146 C=0.781 G=0.219
Latin American 2 Sub 610 C=0.751 G=0.249
South Asian Sub 98 C=0.57 G=0.43
Other Sub 720 C=0.808 G=0.192


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 C=0.808708 G=0.191292
gnomAD - Genomes Global Study-wide 140148 C=0.819163 G=0.180837
gnomAD - Genomes European Sub 75900 C=0.83578 G=0.16422
gnomAD - Genomes African Sub 41992 C=0.81023 G=0.18977
gnomAD - Genomes American Sub 13648 C=0.75418 G=0.24582
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.8210 G=0.1790
gnomAD - Genomes East Asian Sub 3132 C=0.8321 G=0.1679
gnomAD - Genomes Other Sub 2152 C=0.7979 G=0.2021
8.3KJPN JAPANESE Study-wide 16760 C=0.80406 G=0.19594
1000Genomes Global Study-wide 5008 C=0.7780 G=0.2220
1000Genomes African Sub 1322 C=0.8011 G=0.1989
1000Genomes East Asian Sub 1008 C=0.8542 G=0.1458
1000Genomes Europe Sub 1006 C=0.8380 G=0.1620
1000Genomes South Asian Sub 978 C=0.635 G=0.365
1000Genomes American Sub 694 C=0.738 G=0.262
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8094 G=0.1906
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8127 G=0.1873
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8161 G=0.1839
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8092 G=0.1908
HapMap Global Study-wide 1892 C=0.8118 G=0.1882
HapMap American Sub 770 C=0.777 G=0.223
HapMap African Sub 692 C=0.829 G=0.171
HapMap Asian Sub 254 C=0.854 G=0.146
HapMap Europe Sub 176 C=0.835 G=0.165
Genome-wide autozygosity in Daghestan Global Study-wide 1130 C=0.7336 G=0.2664
Genome-wide autozygosity in Daghestan Daghestan Sub 626 C=0.725 G=0.275
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.694 G=0.306
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.754 G=0.246
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.870 G=0.130
Genome-wide autozygosity in Daghestan South Asian Sub 94 C=0.62 G=0.38
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.86 G=0.14
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.840 G=0.160
CNV burdens in cranial meningiomas Global Study-wide 776 C=0.796 G=0.204
CNV burdens in cranial meningiomas CRM Sub 776 C=0.796 G=0.204
Northern Sweden ACPOP Study-wide 600 C=0.905 G=0.095
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.816 G=0.184
SGDP_PRJ Global Study-wide 218 C=0.390 G=0.610
Qatari Global Study-wide 216 C=0.838 G=0.162
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.875 G=0.125
The Danish reference pan genome Danish Study-wide 40 C=0.82 G=0.17
Siberian Global Study-wide 14 C=0.36 G=0.64
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 C= G
GRCh38.p13 chr 2 NC_000002.12:g.75049302= NC_000002.12:g.75049302C>G
GRCh37.p13 chr 2 NC_000002.11:g.75276429= NC_000002.11:g.75276429C>G
TACR1 RefSeqGene NG_029522.1:g.155217= NG_029522.1:g.155217G>C
TACR1 transcript variant long NM_001058.4:c.*130= NM_001058.4:c.*130G>C
TACR1 transcript variant long NM_001058.3:c.*130= NM_001058.3:c.*130G>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#.

69 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss19421 Sep 19, 2000 (94)
2 PERLEGEN ss23864470 Sep 20, 2004 (123)
3 HG_BONN_CNS_SNPS ss28447335 Sep 20, 2004 (123)
4 AFFY ss76431223 Dec 08, 2007 (130)
5 KRIBB_YJKIM ss80753386 Dec 15, 2007 (130)
6 KRIBB_YJKIM ss104807692 Feb 05, 2009 (130)
7 1000GENOMES ss109638541 Jan 24, 2009 (130)
8 GMI ss157230254 Dec 01, 2009 (131)
9 ILLUMINA ss160961908 Dec 01, 2009 (131)
10 BUSHMAN ss200638525 Jul 04, 2010 (132)
11 1000GENOMES ss219331765 Jul 14, 2010 (132)
12 1000GENOMES ss231230061 Jul 14, 2010 (132)
13 1000GENOMES ss238770030 Jul 15, 2010 (132)
14 GMI ss276527463 May 04, 2012 (137)
15 ILLUMINA ss482814459 Sep 08, 2015 (146)
16 GSK-GENETICS ss491258211 May 04, 2012 (137)
17 ILLUMINA ss535750475 Sep 08, 2015 (146)
18 TISHKOFF ss555667385 Apr 25, 2013 (138)
19 SSMP ss649256431 Apr 25, 2013 (138)
20 EVA-GONL ss977001937 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1069241144 Aug 21, 2014 (142)
22 1000GENOMES ss1297888060 Aug 21, 2014 (142)
23 HAMMER_LAB ss1397296833 Sep 08, 2015 (146)
24 DDI ss1428625133 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1578944992 Apr 01, 2015 (144)
26 EVA_DECODE ss1586419351 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1603863611 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1646857644 Apr 01, 2015 (144)
29 EVA_MGP ss1710968161 Apr 01, 2015 (144)
30 EVA_SVP ss1712467668 Apr 01, 2015 (144)
31 HAMMER_LAB ss1796975396 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1920229629 Feb 12, 2016 (147)
33 GENOMED ss1968807759 Jul 19, 2016 (147)
34 JJLAB ss2020648608 Sep 14, 2016 (149)
35 CSHL ss2136676910 Nov 08, 2017 (151)
36 USC_VALOUEV ss2148695563 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2231656295 Dec 20, 2016 (150)
38 TOPMED ss2397623184 Dec 20, 2016 (150)
39 GRF ss2703269332 Nov 08, 2017 (151)
40 GNOMAD ss2775340546 Nov 08, 2017 (151)
41 AFFY ss2985177208 Nov 08, 2017 (151)
42 AFFY ss2985799759 Nov 08, 2017 (151)
43 SWEGEN ss2989761321 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3024090799 Nov 08, 2017 (151)
45 TOPMED ss3312267491 Nov 08, 2017 (151)
46 CSHL ss3344299500 Nov 08, 2017 (151)
47 ILLUMINA ss3628099131 Oct 11, 2018 (152)
48 ILLUMINA ss3636460767 Oct 11, 2018 (152)
49 OMUKHERJEE_ADBS ss3646262972 Oct 11, 2018 (152)
50 ILLUMINA ss3653943454 Oct 11, 2018 (152)
51 EGCUT_WGS ss3657741859 Jul 13, 2019 (153)
52 EVA_DECODE ss3704205499 Jul 13, 2019 (153)
53 ACPOP ss3728567206 Jul 13, 2019 (153)
54 EVA ss3756954493 Jul 13, 2019 (153)
55 PACBIO ss3783901488 Jul 13, 2019 (153)
56 PACBIO ss3789481423 Jul 13, 2019 (153)
57 PACBIO ss3794354394 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3801320803 Jul 13, 2019 (153)
59 EVA ss3825603814 Apr 25, 2020 (154)
60 EVA ss3827058267 Apr 25, 2020 (154)
61 EVA ss3836938076 Apr 25, 2020 (154)
62 EVA ss3842354258 Apr 25, 2020 (154)
63 SGDP_PRJ ss3852594863 Apr 25, 2020 (154)
64 KRGDB ss3898023917 Apr 25, 2020 (154)
65 FSA-LAB ss3984180362 Apr 26, 2021 (155)
66 FSA-LAB ss3984180363 Apr 26, 2021 (155)
67 EVA ss3984484949 Apr 26, 2021 (155)
68 TOPMED ss4511471712 Apr 26, 2021 (155)
69 TOMMO_GENOMICS ss5152092432 Apr 26, 2021 (155)
70 1000Genomes NC_000002.11 - 75276429 Oct 11, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 75276429 Oct 11, 2018 (152)
72 Genome-wide autozygosity in Daghestan NC_000002.10 - 75129937 Apr 25, 2020 (154)
73 Genetic variation in the Estonian population NC_000002.11 - 75276429 Oct 11, 2018 (152)
74 The Danish reference pan genome NC_000002.11 - 75276429 Apr 25, 2020 (154)
75 gnomAD - Genomes NC_000002.12 - 75049302 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000002.11 - 75276429 Apr 25, 2020 (154)
77 HapMap NC_000002.12 - 75049302 Apr 25, 2020 (154)
78 KOREAN population from KRGDB NC_000002.11 - 75276429 Apr 25, 2020 (154)
79 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 75276429 Apr 25, 2020 (154)
80 Northern Sweden NC_000002.11 - 75276429 Jul 13, 2019 (153)
81 CNV burdens in cranial meningiomas NC_000002.11 - 75276429 Apr 26, 2021 (155)
82 Qatari NC_000002.11 - 75276429 Apr 25, 2020 (154)
83 SGDP_PRJ NC_000002.11 - 75276429 Apr 25, 2020 (154)
84 Siberian NC_000002.11 - 75276429 Apr 25, 2020 (154)
85 8.3KJPN NC_000002.11 - 75276429 Apr 26, 2021 (155)
86 TopMed NC_000002.12 - 75049302 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000002.11 - 75276429 Oct 11, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000002.11 - 75276429 Jul 13, 2019 (153)
89 ALFA NC_000002.12 - 75049302 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17013 Apr 12, 2001 (94)
rs56635237 May 25, 2008 (130)
rs58986520 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
246898, ss76431223, ss109638541, ss200638525, ss276527463, ss491258211, ss1397296833, ss1586419351, ss1712467668, ss2136676910 NC_000002.10:75129936:C:G NC_000002.12:75049301:C:G (self)
8854650, 4926479, 3480107, 5114657, 2161563, 5201311, 84913, 1852071, 34280, 2271559, 4611843, 1211917, 10061739, 4926479, 1066091, ss219331765, ss231230061, ss238770030, ss482814459, ss535750475, ss555667385, ss649256431, ss977001937, ss1069241144, ss1297888060, ss1428625133, ss1578944992, ss1603863611, ss1646857644, ss1710968161, ss1796975396, ss1920229629, ss1968807759, ss2020648608, ss2148695563, ss2397623184, ss2703269332, ss2775340546, ss2985177208, ss2985799759, ss2989761321, ss3344299500, ss3628099131, ss3636460767, ss3646262972, ss3653943454, ss3657741859, ss3728567206, ss3756954493, ss3783901488, ss3789481423, ss3794354394, ss3825603814, ss3827058267, ss3836938076, ss3852594863, ss3898023917, ss3984180362, ss3984180363, ss3984484949, ss5152092432 NC_000002.11:75276428:C:G NC_000002.12:75049301:C:G (self)
62888621, 1829944, 196722804, 315294591, 11453384024, ss2231656295, ss3024090799, ss3312267491, ss3704205499, ss3801320803, ss3842354258, ss4511471712 NC_000002.12:75049301:C:G NC_000002.12:75049301:C:G (self)
ss19421, ss23864470, ss28447335, ss80753386, ss104807692, ss157230254, ss160961908 NT_022184.15:54098315:C:G NC_000002.12:75049301:C:G (self)
Help

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

5 citations for rs881
PMID Title Author Year Journal
19553914 Susceptibility locus in neurokinin-1 receptor gene associated with alcohol dependence. Seneviratne C et al. 2009 Neuropsychopharmacology
19670001
19903051 Neurokinin 1 receptor gene polymorphism might be correlated with recurrence rates in endometriosis. Renner SP et al. 2009 Gynecological endocrinology
24817687 Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. Sharp SI et al. 2014 American journal of medical genetics. Part B, Neuropsychiatric genetics
27247849 Genetic variation and cognitive dysfunction in opioid-treated patients with cancer. Kurita GP et al. 2016 Brain and behavior
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.post596+ae089ad