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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.

rs2922126

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:172449471 (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
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.260932 (69066/264690, TOPMED)
A=0.269793 (37750/139922, GnomAD)
A=0.41560 (11744/28258, 14KJPN) (+ 19 more)
A=0.30318 (5727/18890, ALFA)
A=0.41163 (6899/16760, 8.3KJPN)
A=0.3082 (1974/6404, 1000G_30x)
A=0.3151 (1578/5008, 1000G)
A=0.3672 (1645/4480, Estonian)
A=0.3360 (1295/3854, ALSPAC)
A=0.3269 (1212/3708, TWINSUK)
A=0.4532 (1328/2930, KOREAN)
A=0.4329 (793/1832, Korea1K)
A=0.2977 (334/1122, Daghestan)
A=0.330 (329/998, GoNL)
A=0.424 (335/790, PRJEB37584)
A=0.357 (214/600, NorthernSweden)
T=0.350 (103/294, SGDP_PRJ)
A=0.347 (75/216, Qatari)
A=0.402 (86/214, Vietnamese)
A=0.221 (46/208, HapMap)
A=0.38 (15/40, GENOME_DK)
T=0.39 (15/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GHSR : 2KB Upstream Variant
Publications
8 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 18890 T=0.69682 A=0.30318 0.493065 0.099418 0.407517 7
European Sub 14286 T=0.65722 A=0.34278 0.429371 0.114938 0.455691 1
African Sub 2946 T=0.8988 A=0.1012 0.80516 0.007468 0.187373 1
African Others Sub 114 T=0.947 A=0.053 0.894737 0.0 0.105263 0
African American Sub 2832 T=0.8969 A=0.1031 0.801554 0.007768 0.190678 1
Asian Sub 112 T=0.527 A=0.473 0.357143 0.303571 0.339286 4
East Asian Sub 86 T=0.56 A=0.44 0.372093 0.255814 0.372093 2
Other Asian Sub 26 T=0.42 A=0.58 0.307692 0.461538 0.230769 2
Latin American 1 Sub 146 T=0.726 A=0.274 0.534247 0.082192 0.383562 0
Latin American 2 Sub 610 T=0.700 A=0.300 0.504918 0.104918 0.390164 1
South Asian Sub 98 T=0.53 A=0.47 0.244898 0.183673 0.571429 1
Other Sub 692 T=0.697 A=0.303 0.517341 0.124277 0.358382 5


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 T=0.739068 A=0.260932
gnomAD - Genomes Global Study-wide 139922 T=0.730207 A=0.269793
gnomAD - Genomes European Sub 75788 T=0.65334 A=0.34666
gnomAD - Genomes African Sub 41920 T=0.89599 A=0.10401
gnomAD - Genomes American Sub 13628 T=0.70957 A=0.29043
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.6532 A=0.3468
gnomAD - Genomes East Asian Sub 3114 T=0.5588 A=0.4412
gnomAD - Genomes Other Sub 2150 T=0.7056 A=0.2944
14KJPN JAPANESE Study-wide 28258 T=0.58440 A=0.41560
Allele Frequency Aggregator Total Global 18890 T=0.69682 A=0.30318
Allele Frequency Aggregator European Sub 14286 T=0.65722 A=0.34278
Allele Frequency Aggregator African Sub 2946 T=0.8988 A=0.1012
Allele Frequency Aggregator Other Sub 692 T=0.697 A=0.303
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.700 A=0.300
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.726 A=0.274
Allele Frequency Aggregator Asian Sub 112 T=0.527 A=0.473
Allele Frequency Aggregator South Asian Sub 98 T=0.53 A=0.47
8.3KJPN JAPANESE Study-wide 16760 T=0.58837 A=0.41163
1000Genomes_30x Global Study-wide 6404 T=0.6918 A=0.3082
1000Genomes_30x African Sub 1786 T=0.9507 A=0.0493
1000Genomes_30x Europe Sub 1266 T=0.6548 A=0.3452
1000Genomes_30x South Asian Sub 1202 T=0.5399 A=0.4601
1000Genomes_30x East Asian Sub 1170 T=0.5299 A=0.4701
1000Genomes_30x American Sub 980 T=0.647 A=0.353
1000Genomes Global Study-wide 5008 T=0.6849 A=0.3151
1000Genomes African Sub 1322 T=0.9486 A=0.0514
1000Genomes East Asian Sub 1008 T=0.5288 A=0.4712
1000Genomes Europe Sub 1006 T=0.6541 A=0.3459
1000Genomes South Asian Sub 978 T=0.549 A=0.451
1000Genomes American Sub 694 T=0.646 A=0.354
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6328 A=0.3672
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6640 A=0.3360
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6731 A=0.3269
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5468 A=0.4532
Korean Genome Project KOREAN Study-wide 1832 T=0.5671 A=0.4329
Genome-wide autozygosity in Daghestan Global Study-wide 1122 T=0.7023 A=0.2977
Genome-wide autozygosity in Daghestan Daghestan Sub 626 T=0.751 A=0.249
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.750 A=0.250
Genome-wide autozygosity in Daghestan Central Asia Sub 116 T=0.586 A=0.414
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.676 A=0.324
Genome-wide autozygosity in Daghestan South Asian Sub 94 T=0.46 A=0.54
Genome-wide autozygosity in Daghestan Caucasus Sub 34 T=0.76 A=0.24
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.670 A=0.330
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.576 A=0.424
CNV burdens in cranial meningiomas CRM Sub 790 T=0.576 A=0.424
Northern Sweden ACPOP Study-wide 600 T=0.643 A=0.357
SGDP_PRJ Global Study-wide 294 T=0.350 A=0.650
Qatari Global Study-wide 216 T=0.653 A=0.347
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.598 A=0.402
HapMap Global Study-wide 208 T=0.779 A=0.221
HapMap African Sub 120 T=0.950 A=0.050
HapMap Asian Sub 88 T=0.55 A=0.45
The Danish reference pan genome Danish Study-wide 40 T=0.62 A=0.38
Siberian Global Study-wide 38 T=0.39 A=0.61
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 3 NC_000003.12:g.172449471T>A
GRCh37.p13 chr 3 NC_000003.11:g.172167261T>A
GHSR RefSeqGene NG_021159.1:g.3986A>T
Gene: GHSR, growth hormone secretagogue receptor (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
GHSR transcript variant 1b NM_004122.2:c. N/A Upstream Transcript Variant
GHSR transcript variant 1a NM_198407.2:c. N/A Upstream 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 T= A
GRCh38.p14 chr 3 NC_000003.12:g.172449471= NC_000003.12:g.172449471T>A
GRCh37.p13 chr 3 NC_000003.11:g.172167261= NC_000003.11:g.172167261T>A
GHSR RefSeqGene NG_021159.1:g.3986= NG_021159.1:g.3986A>T
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#.

70 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4121810 Nov 05, 2001 (101)
2 CSHL-HAPMAP ss19514528 Feb 27, 2004 (120)
3 SSAHASNP ss21934902 Apr 05, 2004 (121)
4 PERLEGEN ss23933108 Sep 20, 2004 (123)
5 ABI ss44374195 Mar 13, 2006 (126)
6 IMCJ-GDT ss46563949 Mar 13, 2006 (126)
7 PERLEGEN ss68882720 May 18, 2007 (127)
8 HUMANGENOME_JCVI ss96075503 Feb 05, 2009 (130)
9 BGI ss104013177 Dec 01, 2009 (131)
10 1000GENOMES ss112695961 Jan 25, 2009 (130)
11 ENSEMBL ss133164113 Dec 01, 2009 (131)
12 GMI ss156508979 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss162830189 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss206153587 Jul 04, 2010 (132)
15 1000GENOMES ss220582242 Jul 14, 2010 (132)
16 1000GENOMES ss232145157 Jul 14, 2010 (132)
17 1000GENOMES ss239492067 Jul 15, 2010 (132)
18 ILLUMINA ss244292954 Jul 04, 2010 (132)
19 BL ss253685856 May 09, 2011 (134)
20 GMI ss277458535 May 04, 2012 (137)
21 PJP ss292975177 May 09, 2011 (134)
22 TISHKOFF ss557119560 Apr 25, 2013 (138)
23 SSMP ss650865137 Apr 25, 2013 (138)
24 EVA-GONL ss979461342 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1071058315 Aug 21, 2014 (142)
26 1000GENOMES ss1307294409 Aug 21, 2014 (142)
27 HAMMER_LAB ss1397359376 Sep 08, 2015 (146)
28 DDI ss1429673744 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1580298537 Apr 01, 2015 (144)
30 EVA_DECODE ss1588955999 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1608816670 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1651810703 Apr 01, 2015 (144)
33 HAMMER_LAB ss1800447359 Sep 08, 2015 (146)
34 WEILL_CORNELL_DGM ss1922681556 Feb 12, 2016 (147)
35 GENOMED ss1969591036 Jul 19, 2016 (147)
36 JJLAB ss2021916154 Sep 14, 2016 (149)
37 USC_VALOUEV ss2150013691 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2258207349 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2625457565 Nov 08, 2017 (151)
40 GRF ss2705434409 Nov 08, 2017 (151)
41 GNOMAD ss2802394894 Nov 08, 2017 (151)
42 SWEGEN ss2993651433 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3024726524 Nov 08, 2017 (151)
44 CSHL ss3345398109 Nov 08, 2017 (151)
45 URBANLAB ss3647587287 Oct 12, 2018 (152)
46 EGCUT_WGS ss3661600692 Jul 13, 2019 (153)
47 EVA_DECODE ss3710837140 Jul 13, 2019 (153)
48 ACPOP ss3730597591 Jul 13, 2019 (153)
49 EVA ss3761042282 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3804177514 Jul 13, 2019 (153)
51 EVA ss3828220705 Apr 25, 2020 (154)
52 EVA ss3837543437 Apr 25, 2020 (154)
53 EVA ss3842975562 Apr 25, 2020 (154)
54 SGDP_PRJ ss3857570069 Apr 25, 2020 (154)
55 KRGDB ss3903643067 Apr 25, 2020 (154)
56 KOGIC ss3952953085 Apr 25, 2020 (154)
57 EVA ss3984519239 Apr 26, 2021 (155)
58 TOPMED ss4593579753 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5162866883 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5257018547 Oct 12, 2022 (156)
61 EVA ss5345083577 Oct 12, 2022 (156)
62 HUGCELL_USP ss5456063070 Oct 12, 2022 (156)
63 1000G_HIGH_COVERAGE ss5536986637 Oct 12, 2022 (156)
64 SANFORD_IMAGENETICS ss5633758664 Oct 12, 2022 (156)
65 TOMMO_GENOMICS ss5696112026 Oct 12, 2022 (156)
66 YY_MCH ss5804494577 Oct 12, 2022 (156)
67 EVA ss5826863865 Oct 12, 2022 (156)
68 EVA ss5853961488 Oct 12, 2022 (156)
69 EVA ss5872143204 Oct 12, 2022 (156)
70 EVA ss5962135605 Oct 12, 2022 (156)
71 1000Genomes NC_000003.11 - 172167261 Oct 12, 2018 (152)
72 1000Genomes_30x NC_000003.12 - 172449471 Oct 12, 2022 (156)
73 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 172167261 Oct 12, 2018 (152)
74 Genome-wide autozygosity in Daghestan NC_000003.10 - 173649955 Apr 25, 2020 (154)
75 Genetic variation in the Estonian population NC_000003.11 - 172167261 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000003.11 - 172167261 Apr 25, 2020 (154)
77 gnomAD - Genomes NC_000003.12 - 172449471 Apr 26, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000003.11 - 172167261 Apr 25, 2020 (154)
79 HapMap NC_000003.12 - 172449471 Apr 25, 2020 (154)
80 KOREAN population from KRGDB NC_000003.11 - 172167261 Apr 25, 2020 (154)
81 Korean Genome Project NC_000003.12 - 172449471 Apr 25, 2020 (154)
82 Northern Sweden NC_000003.11 - 172167261 Jul 13, 2019 (153)
83 CNV burdens in cranial meningiomas NC_000003.11 - 172167261 Apr 26, 2021 (155)
84 Qatari NC_000003.11 - 172167261 Apr 25, 2020 (154)
85 SGDP_PRJ NC_000003.11 - 172167261 Apr 25, 2020 (154)
86 Siberian NC_000003.11 - 172167261 Apr 25, 2020 (154)
87 8.3KJPN NC_000003.11 - 172167261 Apr 26, 2021 (155)
88 14KJPN NC_000003.12 - 172449471 Oct 12, 2022 (156)
89 TopMed NC_000003.12 - 172449471 Apr 26, 2021 (155)
90 UK 10K study - Twins NC_000003.11 - 172167261 Oct 12, 2018 (152)
91 A Vietnamese Genetic Variation Database NC_000003.11 - 172167261 Jul 13, 2019 (153)
92 ALFA NC_000003.12 - 172449471 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
335100, ss112695961, ss162830189, ss206153587, ss244292954, ss253685856, ss277458535, ss292975177, ss1397359376, ss1588955999 NC_000003.10:173649954:T:A NC_000003.12:172449470:T:A (self)
18601492, 10365218, 7338940, 6463476, 4555617, 10820461, 3882456, 68592, 4723486, 9587049, 2530045, 20836190, 10365218, 2267498, ss220582242, ss232145157, ss239492067, ss557119560, ss650865137, ss979461342, ss1071058315, ss1307294409, ss1429673744, ss1580298537, ss1608816670, ss1651810703, ss1800447359, ss1922681556, ss1969591036, ss2021916154, ss2150013691, ss2625457565, ss2705434409, ss2802394894, ss2993651433, ss3345398109, ss3661600692, ss3730597591, ss3761042282, ss3828220705, ss3837543437, ss3857570069, ss3903643067, ss3984519239, ss5162866883, ss5345083577, ss5633758664, ss5826863865, ss5962135605 NC_000003.11:172167260:T:A NC_000003.12:172449470:T:A (self)
24512572, 132142357, 2510538, 9331086, 29949130, 430957308, 8378872301, ss2258207349, ss3024726524, ss3647587287, ss3710837140, ss3804177514, ss3842975562, ss3952953085, ss4593579753, ss5257018547, ss5456063070, ss5536986637, ss5696112026, ss5804494577, ss5853961488, ss5872143204 NC_000003.12:172449470:T:A NC_000003.12:172449470:T:A (self)
ss19514528, ss21934902 NT_005612.14:78662418:T:A NC_000003.12:172449470:T:A (self)
ss4121810, ss23933108, ss44374195, ss46563949, ss68882720, ss96075503, ss104013177, ss133164113, ss156508979 NT_005612.16:78662406:T:A NC_000003.12:172449470:T:A (self)
Help

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

8 citations for rs2922126
PMID Title Author Year Journal
19024096 Ghrelin receptor gene polymorphisms are associated with female metabolic syndrome in Chinese population. Li WJ et al. 2008 Chinese medical journal
20404923 Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. Gjesing AP et al. 2010 PloS one
20920174 Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study. Campa D et al. 2010 BMC gastroenterology
21269581 Analysis of the influence of the ghrelin receptor rs509035, rs512692 and rs2922126 polymorphisms in the risk of cardiovascular disease in patients with rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2011 Clinical and experimental rheumatology
22457237 GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood. Riedl S et al. 2012 European journal of endocrinology
22927710 Genetic markers of cardiovascular disease in rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2012 Mediators of inflammation
24340245 Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach. Yan XS et al. 2013 SpringerPlus
34174062 The Leu72Met (rs696217 G>T) Polymorphism of the Ghrelin Gene Might Be a Protective Factor for Nonalcoholic Fatty Liver Disease. Tabaeian SP et al. 2021 Journal of gastrointestinal and liver diseases
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.post820+afb47a3d