Name: rs572169
Published: September 21, 2022
License: Open Access

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.

rs572169

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:172447937 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.295048 (106009/359294, ALFA)
T=0.245147 (64888/264690, TOPMED)
T=0.307829 (77121/250532, GnomAD_exome) (+ 27 more)
T=0.244986 (34322/140098, GnomAD)
T=0.301768 (36386/120576, ExAC)
T=0.23347 (18327/78498, PAGE_STUDY)
T=0.41217 (11647/28258, 14KJPN)
T=0.41366 (6933/16760, 8.3KJPN)
T=0.23059 (2999/13006, GO-ESP)
T=0.2325 (1489/6404, 1000G_30x)
T=0.2380 (1192/5008, 1000G)
T=0.2962 (1327/4480, Estonian)
T=0.3153 (1215/3854, ALSPAC)
T=0.3093 (1147/3708, TWINSUK)
T=0.4532 (1327/2928, KOREAN)
T=0.3057 (637/2084, HGDP_Stanford)
T=0.4672 (856/1832, Korea1K)
T=0.2012 (334/1660, HapMap)
T=0.3092 (350/1132, Daghestan)
T=0.336 (335/998, GoNL)
T=0.481 (379/788, PRJEB37584)
T=0.378 (227/600, NorthernSweden)
T=0.328 (177/540, Vietnamese)
T=0.137 (73/534, MGP)
T=0.311 (94/302, FINRISK)
C=0.361 (104/288, SGDP_PRJ)
T=0.111 (24/216, Qatari)
T=0.02 (2/84, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.39 (14/36, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: GHSR : Synonymous Variant
Publications: 15 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	375652	C=0.707184	T=0.292816	0.505771	0.091404	0.402825	32
European	Sub	316118	C=0.701978	T=0.298022	0.495245	0.091289	0.413466	12
African	Sub	16070	C=0.90498	T=0.09502	0.820784	0.010828	0.168388	2
African Others	Sub	594	C=0.961	T=0.039	0.922559	0.0	0.077441	0
African American	Sub	15476	C=0.90282	T=0.09718	0.816878	0.011243	0.171879	2
Asian	Sub	6868	C=0.5345	T=0.4655	0.290623	0.221607	0.487769	1
East Asian	Sub	4904	C=0.5316	T=0.4684	0.285073	0.22186	0.493067	0
Other Asian	Sub	1964	C=0.5418	T=0.4582	0.304481	0.220978	0.474542	1
Latin American 1	Sub	1474	C=0.7883	T=0.2117	0.617368	0.040706	0.341927	0
Latin American 2	Sub	7218	C=0.6135	T=0.3865	0.377667	0.150734	0.471599	0
South Asian	Sub	5220	C=0.7640	T=0.2360	0.592337	0.064368	0.343295	4
Other	Sub	22684	C=0.70336	T=0.29664	0.508023	0.101305	0.390672	25

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	359294	C=0.704952	T=0.295048
Allele Frequency Aggregator	European	Sub	306044	C=0.702543	T=0.297457
Allele Frequency Aggregator	Other	Sub	21238	C=0.70148	T=0.29852
Allele Frequency Aggregator	African	Sub	11232	C=0.90180	T=0.09820
Allele Frequency Aggregator	Latin American 2	Sub	7218	C=0.6135	T=0.3865
Allele Frequency Aggregator	Asian	Sub	6868	C=0.5345	T=0.4655
Allele Frequency Aggregator	South Asian	Sub	5220	C=0.7640	T=0.2360
Allele Frequency Aggregator	Latin American 1	Sub	1474	C=0.7883	T=0.2117
TopMed	Global	Study-wide	264690	C=0.754853	T=0.245147
gnomAD - Exomes	Global	Study-wide	250532	C=0.692171	T=0.307829
gnomAD - Exomes	European	Sub	134716	C=0.687149	T=0.312851
gnomAD - Exomes	Asian	Sub	48968	C=0.68398	T=0.31602
gnomAD - Exomes	American	Sub	34516	C=0.57849	T=0.42151
gnomAD - Exomes	African	Sub	16162	C=0.91709	T=0.08291
gnomAD - Exomes	Ashkenazi Jewish	Sub	10052	C=0.80969	T=0.19031
gnomAD - Exomes	Other	Sub	6118	C=0.7225	T=0.2775
gnomAD - Genomes	Global	Study-wide	140098	C=0.755014	T=0.244986
gnomAD - Genomes	European	Sub	75842	C=0.68500	T=0.31500
gnomAD - Genomes	African	Sub	42022	C=0.91447	T=0.08553
gnomAD - Genomes	American	Sub	13644	C=0.68668	T=0.31332
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8051	T=0.1949
gnomAD - Genomes	East Asian	Sub	3120	C=0.5564	T=0.4436
gnomAD - Genomes	Other	Sub	2146	C=0.7526	T=0.2474
ExAC	Global	Study-wide	120576	C=0.698232	T=0.301768
ExAC	Europe	Sub	72844	C=0.69081	T=0.30919
ExAC	Asian	Sub	25106	C=0.69059	T=0.30941
ExAC	American	Sub	11506	C=0.56562	T=0.43438
ExAC	African	Sub	10222	C=0.91616	T=0.08384
ExAC	Other	Sub	898	C=0.733	T=0.267
The PAGE Study	Global	Study-wide	78498	C=0.76653	T=0.23347
The PAGE Study	AfricanAmerican	Sub	32382	C=0.90322	T=0.09678
The PAGE Study	Mexican	Sub	10802	C=0.59887	T=0.40113
The PAGE Study	Asian	Sub	8310	C=0.5931	T=0.4069
The PAGE Study	PuertoRican	Sub	7902	C=0.7956	T=0.2044
The PAGE Study	NativeHawaiian	Sub	4524	C=0.5294	T=0.4706
The PAGE Study	Cuban	Sub	4226	C=0.7683	T=0.2317
The PAGE Study	Dominican	Sub	3818	C=0.8347	T=0.1653
The PAGE Study	CentralAmerican	Sub	2448	C=0.6511	T=0.3489
The PAGE Study	SouthAmerican	Sub	1976	C=0.6827	T=0.3173
The PAGE Study	NativeAmerican	Sub	1260	C=0.6587	T=0.3413
The PAGE Study	SouthAsian	Sub	850	C=0.748	T=0.252
14KJPN	JAPANESE	Study-wide	28258	C=0.58783	T=0.41217
8.3KJPN	JAPANESE	Study-wide	16760	C=0.58634	T=0.41366
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.76941	T=0.23059
GO Exome Sequencing Project	European American	Sub	8600	C=0.6963	T=0.3037
GO Exome Sequencing Project	African American	Sub	4406	C=0.9122	T=0.0878
1000Genomes_30x	Global	Study-wide	6404	C=0.7675	T=0.2325
1000Genomes_30x	African	Sub	1786	C=0.9446	T=0.0554
1000Genomes_30x	Europe	Sub	1266	C=0.7283	T=0.2717
1000Genomes_30x	South Asian	Sub	1202	C=0.7829	T=0.2171
1000Genomes_30x	East Asian	Sub	1170	C=0.5735	T=0.4265
1000Genomes_30x	American	Sub	980	C=0.708	T=0.292
1000Genomes	Global	Study-wide	5008	C=0.7620	T=0.2380
1000Genomes	African	Sub	1322	C=0.9440	T=0.0560
1000Genomes	East Asian	Sub	1008	C=0.5764	T=0.4236
1000Genomes	Europe	Sub	1006	C=0.7237	T=0.2763
1000Genomes	South Asian	Sub	978	C=0.782	T=0.218
1000Genomes	American	Sub	694	C=0.712	T=0.288
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7038	T=0.2962
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6847	T=0.3153
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6907	T=0.3093
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.5468	T=0.4532
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6943	T=0.3057
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.521	T=0.479
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.720	T=0.280
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.771	T=0.229
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.716	T=0.284
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.930	T=0.070
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.699	T=0.301
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.40	T=0.60
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5328	T=0.4672
HapMap	Global	Study-wide	1660	C=0.7988	T=0.2012
HapMap	African	Sub	686	C=0.929	T=0.071
HapMap	American	Sub	544	C=0.733	T=0.267
HapMap	Asian	Sub	254	C=0.618	T=0.382
HapMap	Europe	Sub	176	C=0.756	T=0.244
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.6908	T=0.3092
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	C=0.639	T=0.361
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.771	T=0.229
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.664	T=0.336
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.741	T=0.259
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.85	T=0.15
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.78	T=0.22
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.664	T=0.336
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.519	T=0.481
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.519	T=0.481
Northern Sweden	ACPOP	Study-wide	600	C=0.622	T=0.378
A Vietnamese Genetic Variation Database	Global	Study-wide	540	C=0.672	T=0.328
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.863	T=0.137
FINRISK	Finnish from FINRISK project	Study-wide	302	C=0.689	T=0.311
SGDP_PRJ	Global	Study-wide	288	C=0.361	T=0.639
Qatari	Global	Study-wide	216	C=0.889	T=0.111
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	C=0.98	T=0.02
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	36	C=0.39	T=0.61

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.172447937C>T
GRCh37.p13 chr 3	NC_000003.11:g.172165727C>T
GHSR RefSeqGene	NG_021159.1:g.5520G>A

Gene: GHSR, growth hormone secretagogue receptor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GHSR transcript variant 1a	NM_198407.2:c.477G>A	R [CGG] > R [CGA]	Coding Sequence Variant
growth hormone secretagogue receptor type 1 isoform 1a	NP_940799.1:p.Arg159=	R (Arg) > R (Arg)	Synonymous Variant
GHSR transcript variant 1b	NM_004122.2:c.477G>A	R [CGG] > R [CGA]	Coding Sequence Variant
growth hormone secretagogue receptor type 1 isoform 1b	NP_004113.1:p.Arg159=	R (Arg) > R (Arg)	Synonymous 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.

Allele: T (allele ID: 251009 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000249477.1	not specified	Benign
RCV000347022.5	Short stature due to growth hormone secretagogue receptor deficiency	Benign
RCV001723864.4	not provided	Benign

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=	T
GRCh38.p14 chr 3	NC_000003.12:g.172447937=	NC_000003.12:g.172447937C>T
GRCh37.p13 chr 3	NC_000003.11:g.172165727=	NC_000003.11:g.172165727C>T
GHSR RefSeqGene	NG_021159.1:g.5520=	NG_021159.1:g.5520G>A
GHSR transcript variant 1a	NM_198407.2:c.477=	NM_198407.2:c.477G>A
GHSR transcript variant 1b	NM_004122.2:c.477=	NM_004122.2:c.477G>A
growth hormone secretagogue receptor type 1 isoform 1a	NP_940799.1:p.Arg159=	NP_940799.1:p.Arg159=
growth hormone secretagogue receptor type 1 isoform 1b	NP_004113.1:p.Arg159=	NP_004113.1:p.Arg159=

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#.

174 SubSNP, 30 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss743520	Aug 11, 2000 (83)
2	KWOK	ss1177165	Oct 04, 2000 (86)
3	KWOK	ss2022813	Oct 18, 2000 (87)
4	TSC-CSHL	ss2362009	Oct 23, 2000 (88)
5	SC_JCM	ss2491893	Nov 09, 2000 (92)
6	YUSUKE	ss3198813	Aug 15, 2001 (98)
7	SC_JCM	ss4156524	Nov 05, 2001 (101)
8	TSC-CSHL	ss5566780	Oct 08, 2002 (108)
9	HG_BONN_CNS_SNPS	ss12587070	Aug 26, 2003 (117)
10	PERLEGEN	ss23933082	Sep 20, 2004 (123)
11	ABI	ss44463049	Mar 13, 2006 (126)
12	IMCJ-GDT	ss46563952	Mar 13, 2006 (126)
13	APPLERA_GI	ss48417339	Mar 13, 2006 (126)
14	ILLUMINA	ss67419257	Dec 01, 2006 (127)
15	ILLUMINA	ss67780723	Dec 01, 2006 (127)
16	ILLUMINA	ss68244062	Dec 12, 2006 (127)
17	ILLUMINA	ss70846462	May 27, 2008 (130)
18	ILLUMINA	ss71431130	May 17, 2007 (127)
19	ILLUMINA	ss75517983	Dec 07, 2007 (129)
20	KRIBB_YJKIM	ss83486711	Dec 16, 2007 (130)
21	1000GENOMES	ss112695951	Jan 25, 2009 (130)
22	ENSEMBL	ss139714548	Dec 01, 2009 (131)
23	ILLUMINA	ss154340271	Dec 01, 2009 (131)
24	GMI	ss156508966	Dec 01, 2009 (131)
25	ILLUMINA	ss159516849	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159706535	Dec 01, 2009 (131)
27	ILLUMINA	ss160744457	Dec 01, 2009 (131)
28	ILLUMINA	ss173924966	Jul 04, 2010 (132)
29	1000GENOMES	ss220582234	Jul 14, 2010 (132)
30	1000GENOMES	ss232145153	Jul 14, 2010 (132)
31	1000GENOMES	ss239492063	Jul 15, 2010 (132)
32	ILLUMINA	ss244303262	Jul 04, 2010 (132)
33	GMI	ss277458531	May 04, 2012 (137)
34	PJP	ss292975174	May 09, 2011 (134)
35	NHLBI-ESP	ss342152280	May 09, 2011 (134)
36	ILLUMINA	ss410939002	Sep 17, 2011 (135)
37	ILLUMINA	ss481152658	May 04, 2012 (137)
38	ILLUMINA	ss481174978	May 04, 2012 (137)
39	ILLUMINA	ss482163345	Sep 08, 2015 (146)
40	ILLUMINA	ss485371509	May 04, 2012 (137)
41	1000GENOMES	ss490878092	May 04, 2012 (137)
42	GSK-GENETICS	ss491268996	May 04, 2012 (137)
43	EXOME_CHIP	ss491348990	May 04, 2012 (137)
44	CLINSEQ_SNP	ss491845525	May 04, 2012 (137)
45	ILLUMINA	ss537312926	Sep 08, 2015 (146)
46	SSMP	ss650865126	Apr 25, 2013 (138)
47	ILLUMINA	ss778930311	Aug 21, 2014 (142)
48	ILLUMINA	ss780685637	Aug 21, 2014 (142)
49	ILLUMINA	ss783131363	Aug 21, 2014 (142)
50	ILLUMINA	ss783359133	Aug 21, 2014 (142)
51	ILLUMINA	ss784087857	Aug 21, 2014 (142)
52	ILLUMINA	ss832390264	Apr 01, 2015 (144)
53	ILLUMINA	ss833028139	Aug 21, 2014 (142)
54	ILLUMINA	ss833618967	Aug 21, 2014 (142)
55	ILLUMINA	ss834391842	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss974450694	Aug 21, 2014 (142)
57	EVA-GONL	ss979461332	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1067457041	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1071058309	Aug 21, 2014 (142)
60	1000GENOMES	ss1307294359	Aug 21, 2014 (142)
61	HAMMER_LAB	ss1397359374	Sep 08, 2015 (146)
62	DDI	ss1429673740	Apr 01, 2015 (144)
63	EVA_GENOME_DK	ss1580298531	Apr 01, 2015 (144)
64	EVA_FINRISK	ss1584031609	Apr 01, 2015 (144)
65	EVA_DECODE	ss1588955988	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1608816643	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1651810676	Apr 01, 2015 (144)
68	EVA_EXAC	ss1687295674	Apr 01, 2015 (144)
69	EVA_MGP	ss1711041404	Apr 01, 2015 (144)
70	EVA_SVP	ss1712631981	Apr 01, 2015 (144)
71	ILLUMINA	ss1752452750	Sep 08, 2015 (146)
72	ILLUMINA	ss1752452751	Sep 08, 2015 (146)
73	ILLUMINA	ss1917775164	Feb 12, 2016 (147)
74	WEILL_CORNELL_DGM	ss1922681545	Feb 12, 2016 (147)
75	ILLUMINA	ss1946102494	Feb 12, 2016 (147)
76	ILLUMINA	ss1958629061	Feb 12, 2016 (147)
77	GENOMED	ss1969591034	Jul 19, 2016 (147)
78	JJLAB	ss2021916147	Sep 14, 2016 (149)
79	USC_VALOUEV	ss2150013687	Dec 20, 2016 (150)
80	HUMAN_LONGEVITY	ss2258207228	Dec 20, 2016 (150)
81	SYSTEMSBIOZJU	ss2625457563	Nov 08, 2017 (151)
82	ILLUMINA	ss2634044434	Nov 08, 2017 (151)
83	ILLUMINA	ss2634044435	Nov 08, 2017 (151)
84	GRF	ss2705434402	Nov 08, 2017 (151)
85	GNOMAD	ss2734203843	Nov 08, 2017 (151)
86	GNOMAD	ss2747140528	Nov 08, 2017 (151)
87	GNOMAD	ss2802394761	Nov 08, 2017 (151)
88	AFFY	ss2985276625	Nov 08, 2017 (151)
89	AFFY	ss2985901187	Nov 08, 2017 (151)
90	SWEGEN	ss2993651418	Nov 08, 2017 (151)
91	ILLUMINA	ss3022313879	Nov 08, 2017 (151)
92	EVA_SAMSUNG_MC	ss3023059960	Nov 08, 2017 (151)
93	BIOINF_KMB_FNS_UNIBA	ss3024726522	Nov 08, 2017 (151)
94	CSHL	ss3345398105	Nov 08, 2017 (151)
95	ILLUMINA	ss3628836860	Oct 12, 2018 (152)
96	ILLUMINA	ss3628836861	Oct 12, 2018 (152)
97	ILLUMINA	ss3631985656	Oct 12, 2018 (152)
98	ILLUMINA	ss3633317129	Oct 12, 2018 (152)
99	ILLUMINA	ss3634035222	Oct 12, 2018 (152)
100	ILLUMINA	ss3634928408	Oct 12, 2018 (152)
101	ILLUMINA	ss3634928409	Oct 12, 2018 (152)
102	ILLUMINA	ss3635718600	Oct 12, 2018 (152)
103	ILLUMINA	ss3636626359	Oct 12, 2018 (152)
104	ILLUMINA	ss3637471038	Oct 12, 2018 (152)
105	ILLUMINA	ss3638456618	Oct 12, 2018 (152)
106	ILLUMINA	ss3639231036	Oct 12, 2018 (152)
107	ILLUMINA	ss3639915378	Oct 12, 2018 (152)
108	ILLUMINA	ss3640635705	Oct 12, 2018 (152)
109	ILLUMINA	ss3640635706	Oct 12, 2018 (152)
110	ILLUMINA	ss3643410332	Oct 12, 2018 (152)
111	ILLUMINA	ss3643961945	Oct 12, 2018 (152)
112	ILLUMINA	ss3644835154	Oct 12, 2018 (152)
113	OMUKHERJEE_ADBS	ss3646295752	Oct 12, 2018 (152)
114	URBANLAB	ss3647587285	Oct 12, 2018 (152)
115	ILLUMINA	ss3652794834	Oct 12, 2018 (152)
116	ILLUMINA	ss3654046549	Oct 12, 2018 (152)
117	EGCUT_WGS	ss3661600678	Jul 13, 2019 (153)
118	EVA_DECODE	ss3710837125	Jul 13, 2019 (153)
119	ACPOP	ss3730597582	Jul 13, 2019 (153)
120	ILLUMINA	ss3744518760	Jul 13, 2019 (153)
121	ILLUMINA	ss3745228388	Jul 13, 2019 (153)
122	ILLUMINA	ss3745228389	Jul 13, 2019 (153)
123	EVA	ss3761042261	Jul 13, 2019 (153)
124	PAGE_CC	ss3771083327	Jul 13, 2019 (153)
125	ILLUMINA	ss3772723544	Jul 13, 2019 (153)
126	ILLUMINA	ss3772723545	Jul 13, 2019 (153)
127	KHV_HUMAN_GENOMES	ss3804177499	Jul 13, 2019 (153)
128	EVA	ss3823974671	Apr 25, 2020 (154)
129	EVA	ss3825521236	Apr 25, 2020 (154)
130	EVA	ss3825537755	Apr 25, 2020 (154)
131	EVA	ss3825646916	Apr 25, 2020 (154)
132	EVA	ss3828220699	Apr 25, 2020 (154)
133	EVA	ss3837543435	Apr 25, 2020 (154)
134	EVA	ss3842975560	Apr 25, 2020 (154)
135	HGDP	ss3847732378	Apr 25, 2020 (154)
136	SGDP_PRJ	ss3857570047	Apr 25, 2020 (154)
137	KRGDB	ss3903643048	Apr 25, 2020 (154)
138	KOGIC	ss3952953049	Apr 25, 2020 (154)
139	FSA-LAB	ss3984268155	Apr 26, 2021 (155)
140	FSA-LAB	ss3984268156	Apr 26, 2021 (155)
141	EVA	ss3984519237	Apr 26, 2021 (155)
142	EVA	ss3985037127	Apr 26, 2021 (155)
143	EVA	ss3986025461	Apr 26, 2021 (155)
144	EVA	ss3986261937	Apr 26, 2021 (155)
145	EVA	ss4017119327	Apr 26, 2021 (155)
146	TOPMED	ss4593579307	Apr 26, 2021 (155)
147	TOMMO_GENOMICS	ss5162866837	Apr 26, 2021 (155)
148	EVA	ss5237002012	Apr 26, 2021 (155)
149	EVA	ss5237179502	Apr 26, 2021 (155)
150	EVA	ss5237640835	Oct 12, 2022 (156)
151	1000G_HIGH_COVERAGE	ss5257018507	Oct 12, 2022 (156)
152	TRAN_CS_UWATERLOO	ss5314408788	Oct 12, 2022 (156)
153	EVA	ss5314912448	Oct 12, 2022 (156)
154	EVA	ss5345083508	Oct 12, 2022 (156)
155	HUGCELL_USP	ss5456063032	Oct 12, 2022 (156)
156	EVA	ss5507312657	Oct 12, 2022 (156)
157	1000G_HIGH_COVERAGE	ss5536986575	Oct 12, 2022 (156)
158	EVA	ss5624134053	Oct 12, 2022 (156)
159	SANFORD_IMAGENETICS	ss5624538814	Oct 12, 2022 (156)
160	SANFORD_IMAGENETICS	ss5633758639	Oct 12, 2022 (156)
161	TOMMO_GENOMICS	ss5696111965	Oct 12, 2022 (156)
162	EVA	ss5799599713	Oct 12, 2022 (156)
163	EVA	ss5800111180	Oct 12, 2022 (156)
164	YY_MCH	ss5804494566	Oct 12, 2022 (156)
165	EVA	ss5826863849	Oct 12, 2022 (156)
166	EVA	ss5847231117	Oct 12, 2022 (156)
167	EVA	ss5847990899	Oct 12, 2022 (156)
168	EVA	ss5848597312	Oct 12, 2022 (156)
169	EVA	ss5853961485	Oct 12, 2022 (156)
170	EVA	ss5872143153	Oct 12, 2022 (156)
171	EVA	ss5962135580	Oct 12, 2022 (156)
172	EVA	ss5979680330	Oct 12, 2022 (156)
173	EVA	ss5980187244	Oct 12, 2022 (156)
174	EVA	ss5981218973	Oct 12, 2022 (156)
175	1000Genomes	NC_000003.11 - 172165727	Oct 12, 2018 (152)
176	1000Genomes_30x	NC_000003.12 - 172447937	Oct 12, 2022 (156)
177	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 172165727	Oct 12, 2018 (152)
178	Genome-wide autozygosity in Daghestan	NC_000003.10 - 173648421	Apr 25, 2020 (154)
179	Genetic variation in the Estonian population	NC_000003.11 - 172165727	Oct 12, 2018 (152)
180	ExAC	NC_000003.11 - 172165727	Oct 12, 2018 (152)
181	FINRISK	NC_000003.11 - 172165727	Apr 25, 2020 (154)
182	The Danish reference pan genome	NC_000003.11 - 172165727	Apr 25, 2020 (154)
183	gnomAD - Genomes	NC_000003.12 - 172447937	Apr 26, 2021 (155)
184	gnomAD - Exomes	NC_000003.11 - 172165727	Jul 13, 2019 (153)
185	GO Exome Sequencing Project	NC_000003.11 - 172165727	Oct 12, 2018 (152)
186	Genome of the Netherlands Release 5	NC_000003.11 - 172165727	Apr 25, 2020 (154)
187	HGDP-CEPH-db Supplement 1	NC_000003.10 - 173648421	Apr 25, 2020 (154)
188	HapMap	NC_000003.12 - 172447937	Apr 25, 2020 (154)
189	KOREAN population from KRGDB	NC_000003.11 - 172165727	Apr 25, 2020 (154)
190	Korean Genome Project	NC_000003.12 - 172447937	Apr 25, 2020 (154)
191	Medical Genome Project healthy controls from Spanish population	NC_000003.11 - 172165727	Apr 25, 2020 (154)
192	Northern Sweden	NC_000003.11 - 172165727	Jul 13, 2019 (153)
193	The PAGE Study	NC_000003.12 - 172447937	Jul 13, 2019 (153)
194	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 172165727	Apr 26, 2021 (155)
195	CNV burdens in cranial meningiomas	NC_000003.11 - 172165727	Apr 26, 2021 (155)
196	Qatari	NC_000003.11 - 172165727	Apr 25, 2020 (154)
197	SGDP_PRJ	NC_000003.11 - 172165727	Apr 25, 2020 (154)
198	Siberian	NC_000003.11 - 172165727	Apr 25, 2020 (154)
199	8.3KJPN	NC_000003.11 - 172165727	Apr 26, 2021 (155)
200	14KJPN	NC_000003.12 - 172447937	Oct 12, 2022 (156)
201	TopMed	NC_000003.12 - 172447937	Apr 26, 2021 (155)
202	UK 10K study - Twins	NC_000003.11 - 172165727	Oct 12, 2018 (152)
203	A Vietnamese Genetic Variation Database	NC_000003.11 - 172165727	Jul 13, 2019 (153)
204	ALFA	NC_000003.12 - 172447937	Apr 26, 2021 (155)
205	ClinVar	RCV000249477.1	Oct 12, 2018 (152)
206	ClinVar	RCV000347022.5	Oct 12, 2022 (156)
207	ClinVar	RCV001723864.4	Oct 12, 2022 (156)

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)
rs1666047	Jan 18, 2001 (92)
rs61504146	May 27, 2008 (130)
rs386599530	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639231036, ss3639915378, ss3643961945	NC_000003.9:173648428:C:T	NC_000003.12:172447936:C:T	(self)
335098, 410270, ss112695951, ss277458531, ss292975174, ss410939002, ss481152658, ss491268996, ss491845525, ss1397359374, ss1588955988, ss1712631981, ss3643410332, ss3847732378	NC_000003.10:173648420:C:T	NC_000003.12:172447936:C:T	(self)
18601441, 10365189, 7338926, 7242666, 28070, 6463470, 3296363, 432948, 4555607, 10820442, 157164, 3882447, 263054, 68590, 4723475, 9587027, 2530041, 20836144, 10365189, 2267490, ss220582234, ss232145153, ss239492063, ss342152280, ss481174978, ss482163345, ss485371509, ss490878092, ss491348990, ss537312926, ss650865126, ss778930311, ss780685637, ss783131363, ss783359133, ss784087857, ss832390264, ss833028139, ss833618967, ss834391842, ss974450694, ss979461332, ss1067457041, ss1071058309, ss1307294359, ss1429673740, ss1580298531, ss1584031609, ss1608816643, ss1651810676, ss1687295674, ss1711041404, ss1752452750, ss1752452751, ss1917775164, ss1922681545, ss1946102494, ss1958629061, ss1969591034, ss2021916147, ss2150013687, ss2625457563, ss2634044434, ss2634044435, ss2705434402, ss2734203843, ss2747140528, ss2802394761, ss2985276625, ss2985901187, ss2993651418, ss3022313879, ss3023059960, ss3345398105, ss3628836860, ss3628836861, ss3631985656, ss3633317129, ss3634035222, ss3634928408, ss3634928409, ss3635718600, ss3636626359, ss3637471038, ss3638456618, ss3640635705, ss3640635706, ss3644835154, ss3646295752, ss3652794834, ss3654046549, ss3661600678, ss3730597582, ss3744518760, ss3745228388, ss3745228389, ss3761042261, ss3772723544, ss3772723545, ss3823974671, ss3825521236, ss3825537755, ss3825646916, ss3828220699, ss3837543435, ss3857570047, ss3903643048, ss3984268155, ss3984268156, ss3984519237, ss3985037127, ss3986025461, ss3986261937, ss4017119327, ss5162866837, ss5314912448, ss5345083508, ss5507312657, ss5624134053, ss5624538814, ss5633758639, ss5799599713, ss5800111180, ss5826863849, ss5847231117, ss5847990899, ss5848597312, ss5962135580, ss5979680330, ss5980187244, ss5981218973	NC_000003.11:172165726:C:T	NC_000003.12:172447936:C:T	(self)
RCV000249477.1, RCV000347022.5, RCV001723864.4, 24512510, 132142024, 2510531, 9331050, 304796, 29949069, 430956862, 10356170466, ss2258207228, ss3024726522, ss3647587285, ss3710837125, ss3771083327, ss3804177499, ss3842975560, ss3952953049, ss4593579307, ss5237002012, ss5237179502, ss5237640835, ss5257018507, ss5314408788, ss5456063032, ss5536986575, ss5696111965, ss5804494566, ss5853961485, ss5872143153	NC_000003.12:172447936:C:T	NC_000003.12:172447936:C:T	(self)
ss743520, ss1177165, ss2022813, ss2362009, ss2491893, ss3198813, ss4156524, ss5566780, ss12587070, ss23933082, ss44463049, ss46563952, ss48417339, ss67419257, ss67780723, ss68244062, ss70846462, ss71431130, ss75517983, ss83486711, ss139714548, ss154340271, ss156508966, ss159516849, ss159706535, ss160744457, ss173924966, ss244303262	NT_005612.16:78660872:C:T	NC_000003.12:172447936:C:T	(self)

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

15 citations for rs572169

PMID	Title	Author	Year	Journal
18647811	Ghrelin receptor gene polymorphisms and body size in children and adults.	Garcia EA et al.	2008	The Journal of clinical endocrinology and metabolism
19165163	Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity.	Gueorguiev M et al.	2009	Obesity (Silver Spring, Md.)
19593725	Association of maternally inherited GNAS alleles with African-American male birth weight.	Adkins RM et al.	2010	International journal of pediatric obesity
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
20586762	Genetic variation of the ghrelin signaling system in females with severe alcohol dependence.	Landgren S et al.	2010	Alcoholism, clinical and experimental research
20881960	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Lango Allen H et al.	2010	Nature
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
21194676	Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.	Lanktree MB et al.	2011	American journal of human genetics
21448464	The ghrelin signalling system is involved in the consumption of sweets.	Landgren S et al.	2011	PloS one
22406557	Human longevity and variation in GH/IGF-1/insulin signaling, DNA damage signaling and repair and pro/antioxidant pathway genes: cross sectional and longitudinal studies.	Soerensen M et al.	2012	Experimental gerontology
22457237	GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood.	Riedl S et al.	2012	European journal of endocrinology
23227170	Ghrelin influences novelty seeking behavior in rodents and men.	Hansson C et al.	2012	PloS one
25376984	Associations between ghrelin and ghrelin receptor polymorphisms and cancer in Caucasian populations: a meta-analysis.	Pabalan NA et al.	2014	BMC genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
28977211	Association of 5-HT2C (rs3813929) and UCP3 (rs1800849) gene polymorphisms with type 2 diabetes in obese women candidates for bariatric surgery.	Schnor NPP et al.	2017	Archives of endocrinology and metabolism

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs572169