Name: rs9633289
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.

rs9633289

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:70639648 (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=0.053342 (14119/264690, TOPMED)
A=0.043507 (6098/140162, GnomAD)
A=0.28838 (8149/28258, 14KJPN) (+ 17 more)
A=0.03526 (666/18890, ALFA)
A=0.28759 (4820/16760, 8.3KJPN)
A=0.1065 (682/6404, 1000G_30x)
A=0.1076 (539/5008, 1000G)
A=0.0241 (108/4480, Estonian)
A=0.0363 (140/3854, ALSPAC)
A=0.0272 (101/3708, TWINSUK)
A=0.2846 (834/2930, KOREAN)
A=0.1005 (189/1880, HapMap)
A=0.3051 (559/1832, Korea1K)
A=0.031 (31/998, GoNL)
A=0.012 (7/600, NorthernSweden)
A=0.037 (8/216, Qatari)
A=0.205 (43/210, Vietnamese)
T=0.432 (64/148, SGDP_PRJ)
T=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 1 citation
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	18890	T=0.96474	A=0.03526
European	Sub	14286	T=0.97207	A=0.02793
African	Sub	2946	T=0.9566	A=0.0434
African Others	Sub	114	T=0.947	A=0.053
African American	Sub	2832	T=0.9569	A=0.0431
Asian	Sub	112	T=0.768	A=0.232
East Asian	Sub	86	T=0.74	A=0.26
Other Asian	Sub	26	T=0.85	A=0.15
Latin American 1	Sub	146	T=0.932	A=0.068
Latin American 2	Sub	610	T=0.908	A=0.092
South Asian	Sub	98	T=0.90	A=0.10
Other	Sub	692	T=0.947	A=0.053

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	T=0.946658	A=0.053342
gnomAD - Genomes	Global	Study-wide	140162	T=0.956493	A=0.043507
gnomAD - Genomes	European	Sub	75904	T=0.97128	A=0.02872
gnomAD - Genomes	African	Sub	42022	T=0.95445	A=0.04555
gnomAD - Genomes	American	Sub	13640	T=0.92764	A=0.07236
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9582	A=0.0418
gnomAD - Genomes	East Asian	Sub	3124	T=0.7574	A=0.2426
gnomAD - Genomes	Other	Sub	2150	T=0.9442	A=0.0558
14KJPN	JAPANESE	Study-wide	28258	T=0.71162	A=0.28838
Allele Frequency Aggregator	Total	Global	18890	T=0.96474	A=0.03526
Allele Frequency Aggregator	European	Sub	14286	T=0.97207	A=0.02793
Allele Frequency Aggregator	African	Sub	2946	T=0.9566	A=0.0434
Allele Frequency Aggregator	Other	Sub	692	T=0.947	A=0.053
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.908	A=0.092
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.932	A=0.068
Allele Frequency Aggregator	Asian	Sub	112	T=0.768	A=0.232
Allele Frequency Aggregator	South Asian	Sub	98	T=0.90	A=0.10
8.3KJPN	JAPANESE	Study-wide	16760	T=0.71241	A=0.28759
1000Genomes_30x	Global	Study-wide	6404	T=0.8935	A=0.1065
1000Genomes_30x	African	Sub	1786	T=0.9496	A=0.0504
1000Genomes_30x	Europe	Sub	1266	T=0.9787	A=0.0213
1000Genomes_30x	South Asian	Sub	1202	T=0.8744	A=0.1256
1000Genomes_30x	East Asian	Sub	1170	T=0.7393	A=0.2607
1000Genomes_30x	American	Sub	980	T=0.889	A=0.111
1000Genomes	Global	Study-wide	5008	T=0.8924	A=0.1076
1000Genomes	African	Sub	1322	T=0.9486	A=0.0514
1000Genomes	East Asian	Sub	1008	T=0.7411	A=0.2589
1000Genomes	Europe	Sub	1006	T=0.9781	A=0.0219
1000Genomes	South Asian	Sub	978	T=0.877	A=0.123
1000Genomes	American	Sub	694	T=0.902	A=0.098
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9759	A=0.0241
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9637	A=0.0363
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9728	A=0.0272
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7154	A=0.2846
HapMap	Global	Study-wide	1880	T=0.8995	A=0.1005
HapMap	American	Sub	764	T=0.910	A=0.090
HapMap	African	Sub	686	T=0.952	A=0.048
HapMap	Asian	Sub	254	T=0.681	A=0.319
HapMap	Europe	Sub	176	T=0.966	A=0.034
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6949	A=0.3051
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.969	A=0.031
Northern Sweden	ACPOP	Study-wide	600	T=0.988	A=0.012
Qatari	Global	Study-wide	216	T=0.963	A=0.037
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.795	A=0.205
SGDP_PRJ	Global	Study-wide	148	T=0.432	A=0.568
Siberian	Global	Study-wide	14	T=0.50	A=0.50

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 1	NC_000001.11:g.70639648T>A
GRCh37.p13 chr 1	NC_000001.10:g.71105331T>A

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	T=	A
GRCh38.p14 chr 1	NC_000001.11:g.70639648=	NC_000001.11:g.70639648T>A
GRCh37.p13 chr 1	NC_000001.10:g.71105331=	NC_000001.10:g.71105331T>A

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#.

51 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss13405663	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss19869265	Feb 27, 2004 (120)
3	AFFY	ss66281933	Nov 30, 2006 (127)
4	AFFY	ss75939294	Dec 06, 2007 (129)
5	KRIBB_YJKIM	ss82604237	Dec 15, 2007 (130)
6	GMI	ss155154014	Dec 01, 2009 (131)
7	AFFY	ss169406715	Jul 04, 2010 (132)
8	1000GENOMES	ss218444680	Jul 14, 2010 (132)
9	1000GENOMES	ss230578394	Jul 14, 2010 (132)
10	1000GENOMES	ss238264102	Jul 15, 2010 (132)
11	GMI	ss275869213	May 04, 2012 (137)
12	TISHKOFF	ss554231080	Apr 25, 2013 (138)
13	SSMP	ss648116395	Apr 25, 2013 (138)
14	EVA-GONL	ss975273299	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1067973724	Aug 21, 2014 (142)
16	1000GENOMES	ss1291323705	Aug 21, 2014 (142)
17	EVA_DECODE	ss1584644093	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1600403172	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1643397205	Apr 01, 2015 (144)
20	EVA_SVP	ss1712342159	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1794529943	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1918480278	Feb 12, 2016 (147)
23	GENOMED	ss1966772804	Jul 19, 2016 (147)
24	JJLAB	ss2019757723	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2147774216	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2163404804	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2624392082	Nov 08, 2017 (151)
28	GRF	ss2697693368	Nov 08, 2017 (151)
29	GNOMAD	ss2756371411	Nov 08, 2017 (151)
30	SWEGEN	ss2986989019	Nov 08, 2017 (151)
31	EGCUT_WGS	ss3655061389	Jul 12, 2019 (153)
32	EVA_DECODE	ss3686983538	Jul 12, 2019 (153)
33	ACPOP	ss3727141692	Jul 12, 2019 (153)
34	EVA	ss3746336686	Jul 12, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3799342927	Jul 12, 2019 (153)
36	SGDP_PRJ	ss3849072034	Apr 25, 2020 (154)
37	KRGDB	ss3894105602	Apr 25, 2020 (154)
38	KOGIC	ss3944722120	Apr 25, 2020 (154)
39	TOPMED	ss4453569966	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5144432419	Apr 25, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5242643237	Oct 12, 2022 (156)
42	EVA	ss5319418247	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5443669574	Oct 12, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5515111954	Oct 12, 2022 (156)
45	SANFORD_IMAGENETICS	ss5625743661	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5669342406	Oct 12, 2022 (156)
47	YY_MCH	ss5800689903	Oct 12, 2022 (156)
48	EVA	ss5832104709	Oct 12, 2022 (156)
49	EVA	ss5848952049	Oct 12, 2022 (156)
50	EVA	ss5908692459	Oct 12, 2022 (156)
51	EVA	ss5937584057	Oct 12, 2022 (156)
52	1000Genomes	NC_000001.10 - 71105331	Oct 11, 2018 (152)
53	1000Genomes_30x	NC_000001.11 - 70639648	Oct 12, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 71105331	Oct 11, 2018 (152)
55	Genetic variation in the Estonian population	NC_000001.10 - 71105331	Oct 11, 2018 (152)
56	gnomAD - Genomes	NC_000001.11 - 70639648	Apr 25, 2021 (155)
57	Genome of the Netherlands Release 5	NC_000001.10 - 71105331	Apr 25, 2020 (154)
58	HapMap	NC_000001.11 - 70639648	Apr 25, 2020 (154)
59	KOREAN population from KRGDB	NC_000001.10 - 71105331	Apr 25, 2020 (154)
60	Korean Genome Project	NC_000001.11 - 70639648	Apr 25, 2020 (154)
61	Northern Sweden	NC_000001.10 - 71105331	Jul 12, 2019 (153)
62	Qatari	NC_000001.10 - 71105331	Apr 25, 2020 (154)
63	SGDP_PRJ	NC_000001.10 - 71105331	Apr 25, 2020 (154)
64	Siberian	NC_000001.10 - 71105331	Apr 25, 2020 (154)
65	8.3KJPN	NC_000001.10 - 71105331	Apr 25, 2021 (155)
66	14KJPN	NC_000001.11 - 70639648	Oct 12, 2022 (156)
67	TopMed	NC_000001.11 - 70639648	Apr 25, 2021 (155)
68	UK 10K study - Twins	NC_000001.10 - 71105331	Oct 11, 2018 (152)
69	A Vietnamese Genetic Variation Database	NC_000001.10 - 71105331	Jul 12, 2019 (153)
70	ALFA	NC_000001.11 - 70639648	Apr 25, 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)
rs58703662	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66281933, ss75939294, ss169406715, ss275869213, ss1584644093, ss1712342159	NC_000001.9:70877918:T:A	NC_000001.11:70639647:T:A	(self)
2057632, 1128512, 799637, 482231, 1282996, 426557, 522208, 1089014, 290570, 2401726, 1128512, 236859, ss218444680, ss230578394, ss238264102, ss554231080, ss648116395, ss975273299, ss1067973724, ss1291323705, ss1600403172, ss1643397205, ss1794529943, ss1918480278, ss1966772804, ss2019757723, ss2147774216, ss2624392082, ss2697693368, ss2756371411, ss2986989019, ss3655061389, ss3727141692, ss3746336686, ss3849072034, ss3894105602, ss5144432419, ss5319418247, ss5625743661, ss5832104709, ss5937584057	NC_000001.10:71105330:T:A	NC_000001.11:70639647:T:A	(self)
2637889, 14520403, 93108, 1100121, 3179510, 17176301, 4063939041, ss2163404804, ss3686983538, ss3799342927, ss3944722120, ss4453569966, ss5242643237, ss5443669574, ss5515111954, ss5669342406, ss5800689903, ss5848952049, ss5908692459	NC_000001.11:70639647:T:A	NC_000001.11:70639647:T:A	(self)
ss13405663	NT_004464.15:1550621:T:A	NC_000001.11:70639647:T:A	(self)
ss19869265	NT_032977.6:32668399:T:A	NC_000001.11:70639647:T:A	(self)
ss82604237, ss155154014	NT_032977.9:41077248:T:A	NC_000001.11:70639647:T:A	(self)

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

1 citation for rs9633289

PMID	Title	Author	Year	Journal
26169365	Susceptible gene of stasis-stagnation constitution from genome-wide association study related to cardiovascular disturbance and possible regulated traditional Chinese medicine.	Huang KC et al.	2015	BMC complementary and alternative medicine

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

rs9633289