Name: rs7074653
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.

rs7074653

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:111073471 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.044792 (11856/264690, TOPMED)
C=0.045403 (6364/140168, GnomAD)
C=0.04105 (1160/28258, 14KJPN) (+ 13 more)
C=0.04050 (854/21086, ALFA)
C=0.04063 (681/16760, 8.3KJPN)
C=0.0453 (290/6404, 1000G_30x)
C=0.0469 (235/5008, 1000G)
C=0.0295 (132/4480, Estonian)
C=0.0376 (145/3854, ALSPAC)
C=0.0405 (150/3708, TWINSUK)
C=0.0202 (59/2922, KOREAN)
C=0.030 (30/998, GoNL)
C=0.073 (44/600, NorthernSweden)
C=0.083 (18/216, Qatari)
C=0.033 (7/214, Vietnamese)
G=0.38 (29/76, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	21086	G=0.95950	C=0.04050
European	Sub	16444	G=0.96333	C=0.03667
African	Sub	2946	G=0.9396	C=0.0604
African Others	Sub	114	G=0.939	C=0.061
African American	Sub	2832	G=0.9396	C=0.0604
Asian	Sub	112	G=0.955	C=0.045
East Asian	Sub	86	G=0.98	C=0.02
Other Asian	Sub	26	G=0.88	C=0.12
Latin American 1	Sub	146	G=0.952	C=0.048
Latin American 2	Sub	610	G=0.967	C=0.033
South Asian	Sub	98	G=0.93	C=0.07
Other	Sub	730	G=0.953	C=0.047

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=0.955208	C=0.044792
gnomAD - Genomes	Global	Study-wide	140168	G=0.954597	C=0.045403
gnomAD - Genomes	European	Sub	75884	G=0.95870	C=0.04130
gnomAD - Genomes	African	Sub	42024	G=0.94284	C=0.05716
gnomAD - Genomes	American	Sub	13654	G=0.96038	C=0.03962
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9744	C=0.0256
gnomAD - Genomes	East Asian	Sub	3134	G=0.9706	C=0.0294
gnomAD - Genomes	Other	Sub	2150	G=0.9488	C=0.0512
14KJPN	JAPANESE	Study-wide	28258	G=0.95895	C=0.04105
Allele Frequency Aggregator	Total	Global	21086	G=0.95950	C=0.04050
Allele Frequency Aggregator	European	Sub	16444	G=0.96333	C=0.03667
Allele Frequency Aggregator	African	Sub	2946	G=0.9396	C=0.0604
Allele Frequency Aggregator	Other	Sub	730	G=0.953	C=0.047
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.967	C=0.033
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.952	C=0.048
Allele Frequency Aggregator	Asian	Sub	112	G=0.955	C=0.045
Allele Frequency Aggregator	South Asian	Sub	98	G=0.93	C=0.07
8.3KJPN	JAPANESE	Study-wide	16760	G=0.95937	C=0.04063
1000Genomes_30x	Global	Study-wide	6404	G=0.9547	C=0.0453
1000Genomes_30x	African	Sub	1786	G=0.9451	C=0.0549
1000Genomes_30x	Europe	Sub	1266	G=0.9581	C=0.0419
1000Genomes_30x	South Asian	Sub	1202	G=0.9318	C=0.0682
1000Genomes_30x	East Asian	Sub	1170	G=0.9744	C=0.0256
1000Genomes_30x	American	Sub	980	G=0.972	C=0.028
1000Genomes	Global	Study-wide	5008	G=0.9531	C=0.0469
1000Genomes	African	Sub	1322	G=0.9418	C=0.0582
1000Genomes	East Asian	Sub	1008	G=0.9722	C=0.0278
1000Genomes	Europe	Sub	1006	G=0.9612	C=0.0388
1000Genomes	South Asian	Sub	978	G=0.926	C=0.074
1000Genomes	American	Sub	694	G=0.973	C=0.027
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9705	C=0.0295
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9624	C=0.0376
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9595	C=0.0405
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9798	C=0.0202
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.970	C=0.030
Northern Sweden	ACPOP	Study-wide	600	G=0.927	C=0.073
Qatari	Global	Study-wide	216	G=0.917	C=0.083
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.967	C=0.033
SGDP_PRJ	Global	Study-wide	76	G=0.38	C=0.62

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 10	NC_000010.11:g.111073471G>C
GRCh37.p13 chr 10	NC_000010.10:g.112833229G>C
ADRA2A RefSeqGene (LRG_545)	NG_012020.1:g.1440G>C

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=	C
GRCh38.p14 chr 10	NC_000010.11:g.111073471=	NC_000010.11:g.111073471G>C
GRCh37.p13 chr 10	NC_000010.10:g.112833229=	NC_000010.10:g.112833229G>C
ADRA2A RefSeqGene (LRG_545)	NG_012020.1:g.1440=	NG_012020.1:g.1440G>C

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#.

48 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10594586	Jul 11, 2003 (116)
2	PERLEGEN	ss24505893	Sep 20, 2004 (123)
3	PGA-UW-FHCRC	ss49854059	Mar 14, 2006 (126)
4	COMPLETE_GENOMICS	ss168744108	Jul 04, 2010 (132)
5	ILLUMINA	ss174229555	Jul 04, 2010 (132)
6	1000GENOMES	ss224940928	Jul 14, 2010 (132)
7	1000GENOMES	ss235334361	Jul 15, 2010 (132)
8	1000GENOMES	ss242009006	Jul 15, 2010 (132)
9	ILLUMINA	ss537430397	Sep 08, 2015 (146)
10	TISHKOFF	ss562210562	Apr 25, 2013 (138)
11	SSMP	ss657357715	Apr 25, 2013 (138)
12	EVA-GONL	ss987924014	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1077298644	Aug 21, 2014 (142)
14	1000GENOMES	ss1339075704	Aug 21, 2014 (142)
15	DDI	ss1426444785	Apr 01, 2015 (144)
16	EVA_DECODE	ss1597602048	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1625443167	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1668437200	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1806570122	Sep 08, 2015 (146)
20	WEILL_CORNELL_DGM	ss1931284850	Feb 12, 2016 (147)
21	JJLAB	ss2026375001	Sep 14, 2016 (149)
22	HUMAN_LONGEVITY	ss2178101133	Dec 20, 2016 (150)
23	GRF	ss2698909675	Nov 08, 2017 (151)
24	GNOMAD	ss2893432250	Nov 08, 2017 (151)
25	SWEGEN	ss3007154207	Nov 08, 2017 (151)
26	ILLUMINA	ss3626534536	Oct 12, 2018 (152)
27	ILLUMINA	ss3637874020	Oct 12, 2018 (152)
28	EGCUT_WGS	ss3674569062	Jul 13, 2019 (153)
29	EVA_DECODE	ss3690688538	Jul 13, 2019 (153)
30	ACPOP	ss3737682603	Jul 13, 2019 (153)
31	EVA	ss3748607378	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3813967316	Jul 13, 2019 (153)
33	SGDP_PRJ	ss3875061101	Apr 26, 2020 (154)
34	KRGDB	ss3923226669	Apr 26, 2020 (154)
35	EVA	ss4017507769	Apr 26, 2021 (155)
36	TOPMED	ss4866637779	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5199491691	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5285480015	Oct 16, 2022 (156)
39	EVA	ss5396059272	Oct 16, 2022 (156)
40	HUGCELL_USP	ss5480902126	Oct 16, 2022 (156)
41	EVA	ss5510172154	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5580164349	Oct 16, 2022 (156)
43	SANFORD_IMAGENETICS	ss5650103631	Oct 16, 2022 (156)
44	TOMMO_GENOMICS	ss5745866796	Oct 16, 2022 (156)
45	YY_MCH	ss5811887339	Oct 16, 2022 (156)
46	EVA	ss5824963730	Oct 16, 2022 (156)
47	EVA	ss5880541195	Oct 16, 2022 (156)
48	EVA	ss5941403965	Oct 16, 2022 (156)
49	1000Genomes	NC_000010.10 - 112833229	Oct 12, 2018 (152)
50	1000Genomes_30x	NC_000010.11 - 111073471	Oct 16, 2022 (156)
51	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 112833229	Oct 12, 2018 (152)
52	Genetic variation in the Estonian population	NC_000010.10 - 112833229	Oct 12, 2018 (152)
53	gnomAD - Genomes	NC_000010.11 - 111073471	Apr 26, 2021 (155)
54	Genome of the Netherlands Release 5	NC_000010.10 - 112833229	Apr 26, 2020 (154)
55	KOREAN population from KRGDB	NC_000010.10 - 112833229	Apr 26, 2020 (154)
56	Northern Sweden	NC_000010.10 - 112833229	Jul 13, 2019 (153)
57	Qatari	NC_000010.10 - 112833229	Apr 26, 2020 (154)
58	SGDP_PRJ	NC_000010.10 - 112833229	Apr 26, 2020 (154)
59	8.3KJPN	NC_000010.10 - 112833229	Apr 26, 2021 (155)
60	14KJPN	NC_000010.11 - 111073471	Oct 16, 2022 (156)
61	TopMed	NC_000010.11 - 111073471	Apr 26, 2021 (155)
62	UK 10K study - Twins	NC_000010.10 - 112833229	Oct 12, 2018 (152)
63	A Vietnamese Genetic Variation Database	NC_000010.10 - 112833229	Jul 13, 2019 (153)
64	ALFA	NC_000010.11 - 111073471	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)
rs17772429	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss168744108, ss1597602048	NC_000010.9:112823218:G:C	NC_000010.11:111073470:G:C	(self)
51523126, 28617563, 20307310, 12755520, 30404063, 10967468, 13326780, 27078081, 57460998, 28617563, 6349739, ss224940928, ss235334361, ss242009006, ss537430397, ss562210562, ss657357715, ss987924014, ss1077298644, ss1339075704, ss1426444785, ss1625443167, ss1668437200, ss1806570122, ss1931284850, ss2026375001, ss2698909675, ss2893432250, ss3007154207, ss3626534536, ss3637874020, ss3674569062, ss3737682603, ss3748607378, ss3875061101, ss3923226669, ss4017507769, ss5199491691, ss5396059272, ss5510172154, ss5650103631, ss5824963730, ss5941403965	NC_000010.10:112833228:G:C	NC_000010.11:111073470:G:C	(self)
67690284, 364090320, 79703900, 82183434, 2177405965, ss2178101133, ss3690688538, ss3813967316, ss4866637779, ss5285480015, ss5480902126, ss5580164349, ss5745866796, ss5811887339, ss5880541195	NC_000010.11:111073470:G:C	NC_000010.11:111073470:G:C	(self)
ss10594586	NT_030059.10:31271786:G:C	NC_000010.11:111073470:G:C	(self)
ss24505893, ss49854059, ss174229555	NT_030059.13:63637692:G:C	NC_000010.11:111073470:G:C	(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 rs7074653

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

rs7074653