Name: rs4988497
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.

rs4988497

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:30969841 (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: G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.010091 (2671/264690, TOPMED)
T=0.009162 (2303/251376, GnomAD_exome)
T=0.010904 (1529/140226, GnomAD) (+ 16 more)
T=0.009306 (1129/121326, ExAC)
T=0.00629 (495/78684, PAGE_STUDY)
T=0.01257 (918/73036, ALFA)
T=0.00900 (117/13006, GO-ESP)
T=0.0047 (30/6404, 1000G_30x)
T=0.0044 (22/5008, 1000G)
T=0.0232 (104/4480, Estonian)
T=0.0148 (57/3854, ALSPAC)
T=0.0102 (38/3708, TWINSUK)
T=0.010 (10/998, GoNL)
T=0.013 (8/600, NorthernSweden)
T=0.028 (15/534, MGP)
T=0.013 (4/304, FINRISK)
T=0.03 (1/40, GENOME_DK)
G=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GHRHR : Intron Variant
Publications: 0 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	89486	G=0.98811	T=0.01189
European	Sub	69754	G=0.98661	T=0.01339
African	Sub	8870	G=0.9977	T=0.0023
African Others	Sub	306	G=1.000	T=0.000
African American	Sub	8564	G=0.9977	T=0.0023
Asian	Sub	250	G=1.000	T=0.000
East Asian	Sub	192	G=1.000	T=0.000
Other Asian	Sub	58	G=1.00	T=0.00
Latin American 1	Sub	508	G=0.988	T=0.012
Latin American 2	Sub	634	G=0.991	T=0.009
South Asian	Sub	104	G=0.990	T=0.010
Other	Sub	9366	G=0.9896	T=0.0104

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
TopMed	Global	Study-wide	264690	G=0.989909	T=0.010091
gnomAD - Exomes	Global	Study-wide	251376	G=0.990838	T=0.009162
gnomAD - Exomes	European	Sub	135332	G=0.985709	T=0.014291
gnomAD - Exomes	Asian	Sub	49010	G=0.99914	T=0.00086
gnomAD - Exomes	American	Sub	34584	G=0.99358	T=0.00642
gnomAD - Exomes	African	Sub	16234	G=0.99710	T=0.00290
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	G=0.99911	T=0.00089
gnomAD - Exomes	Other	Sub	6138	G=0.9920	T=0.0080
gnomAD - Genomes	Global	Study-wide	140226	G=0.989096	T=0.010904
gnomAD - Genomes	European	Sub	75934	G=0.98395	T=0.01605
gnomAD - Genomes	African	Sub	42032	G=0.99753	T=0.00247
gnomAD - Genomes	American	Sub	13652	G=0.98696	T=0.01304
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9988	T=0.0012
gnomAD - Genomes	East Asian	Sub	3132	G=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2152	G=0.9888	T=0.0112
ExAC	Global	Study-wide	121326	G=0.990694	T=0.009306
ExAC	Europe	Sub	73294	G=0.98636	T=0.01364
ExAC	Asian	Sub	25166	G=0.99909	T=0.00091
ExAC	American	Sub	11576	G=0.99464	T=0.00536
ExAC	African	Sub	10382	G=0.99701	T=0.00299
ExAC	Other	Sub	908	G=0.986	T=0.014
The PAGE Study	Global	Study-wide	78684	G=0.99371	T=0.00629
The PAGE Study	AfricanAmerican	Sub	32504	G=0.99689	T=0.00311
The PAGE Study	Mexican	Sub	10808	G=0.99334	T=0.00666
The PAGE Study	Asian	Sub	8318	G=0.9996	T=0.0004
The PAGE Study	PuertoRican	Sub	7918	G=0.9819	T=0.0181
The PAGE Study	NativeHawaiian	Sub	4530	G=0.9956	T=0.0044
The PAGE Study	Cuban	Sub	4230	G=0.9830	T=0.0170
The PAGE Study	Dominican	Sub	3828	G=0.9927	T=0.0073
The PAGE Study	CentralAmerican	Sub	2450	G=0.9902	T=0.0098
The PAGE Study	SouthAmerican	Sub	1982	G=0.9914	T=0.0086
The PAGE Study	NativeAmerican	Sub	1260	G=0.9929	T=0.0071
The PAGE Study	SouthAsian	Sub	856	G=0.993	T=0.007
Allele Frequency Aggregator	Total	Global	73036	G=0.98743	T=0.01257
Allele Frequency Aggregator	European	Sub	59594	G=0.98631	T=0.01369
Allele Frequency Aggregator	Other	Sub	7914	G=0.9900	T=0.0100
Allele Frequency Aggregator	African	Sub	4032	G=0.9975	T=0.0025
Allele Frequency Aggregator	Latin American 2	Sub	634	G=0.991	T=0.009
Allele Frequency Aggregator	Latin American 1	Sub	508	G=0.988	T=0.012
Allele Frequency Aggregator	Asian	Sub	250	G=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	104	G=0.990	T=0.010
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99100	T=0.00900
GO Exome Sequencing Project	European American	Sub	8600	G=0.9883	T=0.0117
GO Exome Sequencing Project	African American	Sub	4406	G=0.9964	T=0.0036
1000Genomes_30x	Global	Study-wide	6404	G=0.9953	T=0.0047
1000Genomes_30x	African	Sub	1786	G=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9834	T=0.0166
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	G=0.991	T=0.009
1000Genomes	Global	Study-wide	5008	G=0.9956	T=0.0044
1000Genomes	African	Sub	1322	G=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	G=0.9841	T=0.0159
1000Genomes	South Asian	Sub	978	G=1.000	T=0.000
1000Genomes	American	Sub	694	G=0.991	T=0.009
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9768	T=0.0232
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9852	T=0.0148
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9898	T=0.0102
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.990	T=0.010
Northern Sweden	ACPOP	Study-wide	600	G=0.987	T=0.013
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.972	T=0.028
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.987	T=0.013
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	T=0.03
SGDP_PRJ	Global	Study-wide	6	G=0.5	T=0.5

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 7	NC_000007.14:g.30969841G>T
GRCh37.p13 chr 7	NC_000007.13:g.31009456G>T
GHRHR RefSeqGene	NG_021416.1:g.10821G>T

Gene: GHRHR, growth hormone releasing hormone receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GHRHR transcript	NM_000823.4:c.269-26G>T	N/A	Intron 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.

Not Reported in ClinVar

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	G=	T
GRCh38.p14 chr 7	NC_000007.14:g.30969841=	NC_000007.14:g.30969841G>T
GRCh37.p13 chr 7	NC_000007.13:g.31009456=	NC_000007.13:g.31009456G>T
GHRHR RefSeqGene	NG_021416.1:g.10821=	NG_021416.1:g.10821G>T
GHRHR transcript	NM_000823.3:c.269-26=	NM_000823.3:c.269-26G>T
GHRHR transcript	NM_000823.4:c.269-26=	NM_000823.4:c.269-26G>T

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#.

53 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	IARC-GAN	ss7844177	Mar 31, 2003 (113)
2	CEPH	ss46525949	Mar 14, 2006 (126)
3	BCMHGSC_JDW	ss93653680	Mar 24, 2008 (129)
4	ENSEMBL	ss142806093	Dec 01, 2009 (131)
5	1000GENOMES	ss233912512	Jul 15, 2010 (132)
6	1000GENOMES	ss490943411	May 04, 2012 (137)
7	CLINSEQ_SNP	ss491904265	May 04, 2012 (137)
8	ILLUMINA	ss535716505	Sep 08, 2015 (146)
9	NHLBI-ESP	ss712766817	Apr 25, 2013 (138)
10	EVA-GONL	ss984111122	Aug 21, 2014 (142)
11	1000GENOMES	ss1324516439	Aug 21, 2014 (142)
12	EVA_GENOME_DK	ss1582134787	Apr 01, 2015 (144)
13	EVA_FINRISK	ss1584051786	Apr 01, 2015 (144)
14	EVA_DECODE	ss1593682171	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1617887150	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1660881183	Apr 01, 2015 (144)
17	EVA_EXAC	ss1688691523	Apr 01, 2015 (144)
18	EVA_MGP	ss1711159062	Apr 01, 2015 (144)
19	ILLUMINA	ss1959000478	Feb 12, 2016 (147)
20	HUMAN_LONGEVITY	ss2292874365	Dec 20, 2016 (150)
21	ILLUMINA	ss2711107552	Nov 08, 2017 (151)
22	GNOMAD	ss2736365559	Nov 08, 2017 (151)
23	GNOMAD	ss2747799932	Nov 08, 2017 (151)
24	GNOMAD	ss2851411731	Nov 08, 2017 (151)
25	AFFY	ss2985403451	Nov 08, 2017 (151)
26	SWEGEN	ss3000864305	Nov 08, 2017 (151)
27	ILLUMINA	ss3022722482	Nov 08, 2017 (151)
28	ILLUMINA	ss3629785040	Oct 12, 2018 (152)
29	ILLUMINA	ss3653252340	Oct 12, 2018 (152)
30	ILLUMINA	ss3654164117	Oct 12, 2018 (152)
31	EGCUT_WGS	ss3668793562	Jul 13, 2019 (153)
32	EVA_DECODE	ss3719389700	Jul 13, 2019 (153)
33	ILLUMINA	ss3726433318	Jul 13, 2019 (153)
34	ACPOP	ss3734490250	Jul 13, 2019 (153)
35	PAGE_CC	ss3771361470	Jul 13, 2019 (153)
36	EVA	ss3824266110	Apr 26, 2020 (154)
37	EVA	ss3825717452	Apr 26, 2020 (154)
38	SGDP_PRJ	ss3866943615	Apr 26, 2020 (154)
39	FSA-LAB	ss3984363561	Apr 26, 2021 (155)
40	EVA	ss3986377978	Apr 26, 2021 (155)
41	TOPMED	ss4740670919	Apr 26, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5272341189	Oct 14, 2022 (156)
43	EVA	ss5372583314	Oct 14, 2022 (156)
44	HUGCELL_USP	ss5469576090	Oct 14, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5560239657	Oct 14, 2022 (156)
46	SANFORD_IMAGENETICS	ss5624659151	Oct 14, 2022 (156)
47	SANFORD_IMAGENETICS	ss5642640122	Oct 14, 2022 (156)
48	EVA	ss5822609978	Oct 14, 2022 (156)
49	EVA	ss5848133492	Oct 14, 2022 (156)
50	EVA	ss5848679629	Oct 14, 2022 (156)
51	EVA	ss5858296385	Oct 14, 2022 (156)
52	EVA	ss5971846261	Oct 14, 2022 (156)
53	EVA	ss5979821814	Oct 14, 2022 (156)
54	1000Genomes	NC_000007.13 - 31009456	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000007.14 - 30969841	Oct 14, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 31009456	Oct 12, 2018 (152)
57	Genetic variation in the Estonian population	NC_000007.13 - 31009456	Oct 12, 2018 (152)
58	ExAC	NC_000007.13 - 31009456	Oct 12, 2018 (152)
59	FINRISK	NC_000007.13 - 31009456	Apr 26, 2020 (154)
60	The Danish reference pan genome	NC_000007.13 - 31009456	Apr 26, 2020 (154)
61	gnomAD - Genomes	NC_000007.14 - 30969841	Apr 26, 2021 (155)
62	gnomAD - Exomes	NC_000007.13 - 31009456	Jul 13, 2019 (153)
63	GO Exome Sequencing Project	NC_000007.13 - 31009456	Oct 12, 2018 (152)
64	Genome of the Netherlands Release 5	NC_000007.13 - 31009456	Apr 26, 2020 (154)
65	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 31009456	Apr 26, 2020 (154)
66	Northern Sweden	NC_000007.13 - 31009456	Jul 13, 2019 (153)
67	The PAGE Study	NC_000007.14 - 30969841	Jul 13, 2019 (153)
68	SGDP_PRJ	NC_000007.13 - 31009456	Apr 26, 2020 (154)
69	TopMed	NC_000007.14 - 30969841	Apr 26, 2021 (155)
70	UK 10K study - Twins	NC_000007.13 - 31009456	Oct 12, 2018 (152)
71	ALFA	NC_000007.14 - 30969841	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93653680, ss491904265, ss1593682171	NC_000007.12:30975980:G:T	NC_000007.14:30969840:G:T	(self)
36464754, 20332330, 14531810, 8753979, 48247, 8299726, 5525677, 724087, 9065669, 274822, 7775115, 18960595, 20332330, ss233912512, ss490943411, ss535716505, ss712766817, ss984111122, ss1324516439, ss1582134787, ss1584051786, ss1617887150, ss1660881183, ss1688691523, ss1711159062, ss1959000478, ss2711107552, ss2736365559, ss2747799932, ss2851411731, ss2985403451, ss3000864305, ss3022722482, ss3629785040, ss3653252340, ss3654164117, ss3668793562, ss3734490250, ss3824266110, ss3825717452, ss3866943615, ss3984363561, ss3986377978, ss5372583314, ss5624659151, ss5642640122, ss5822609978, ss5848133492, ss5848679629, ss5971846261, ss5979821814	NC_000007.13:31009455:G:T	NC_000007.14:30969840:G:T	(self)
47765592, 257105254, 582939, 578048478, 429262677, ss2292874365, ss3719389700, ss3726433318, ss3771361470, ss4740670919, ss5272341189, ss5469576090, ss5560239657, ss5858296385	NC_000007.14:30969840:G:T	NC_000007.14:30969840:G:T	(self)
ss7844177, ss46525949, ss142806093	NT_007819.17:30999455:G:T	NC_000007.14:30969840:G:T	(self)

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

No publications for rs4988497

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4988497