Name: rs9330264
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.

rs9330264

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:155123274 (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 / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.230727 (61071/264690, TOPMED)
T=0.246881 (34476/139646, GnomAD)
T=0.00074 (21/28248, 14KJPN) (+ 16 more)
T=0.31016 (5859/18890, ALFA)
T=0.00101 (17/16758, 8.3KJPN)
T=0.1663 (1065/6404, 1000G_30x)
T=0.1659 (831/5008, 1000G)
T=0.3915 (1754/4480, Estonian)
T=0.3521 (1357/3854, ALSPAC)
T=0.3633 (1347/3708, TWINSUK)
T=0.0041 (12/2930, KOREAN)
T=0.0011 (2/1832, Korea1K)
T=0.351 (350/998, GoNL)
T=0.352 (211/600, NorthernSweden)
T=0.134 (71/528, SGDP_PRJ)
T=0.347 (75/216, Qatari)
T=0.25 (13/52, Siberian)
T=0.30 (14/46, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)

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	18890	T=0.31016	C=0.68984
European	Sub	14286	T=0.37414	C=0.62586
African	Sub	2946	T=0.0553	C=0.9447
African Others	Sub	114	T=0.009	C=0.991
African American	Sub	2832	T=0.0572	C=0.9428
Asian	Sub	112	T=0.000	C=1.000
East Asian	Sub	86	T=0.00	C=1.00
Other Asian	Sub	26	T=0.00	C=1.00
Latin American 1	Sub	146	T=0.233	C=0.767
Latin American 2	Sub	610	T=0.172	C=0.828
South Asian	Sub	98	T=0.34	C=0.66
Other	Sub	692	T=0.259	C=0.741

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=0.230727	C=0.769273
gnomAD - Genomes	Global	Study-wide	139646	T=0.246881	C=0.753119
gnomAD - Genomes	European	Sub	75662	T=0.35162	C=0.64838
gnomAD - Genomes	African	Sub	41828	T=0.06144	C=0.93856
gnomAD - Genomes	American	Sub	13564	T=0.24071	C=0.75929
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.4488	C=0.5512
gnomAD - Genomes	East Asian	Sub	3134	T=0.0153	C=0.9847
gnomAD - Genomes	Other	Sub	2138	T=0.2334	C=0.7666
14KJPN	JAPANESE	Study-wide	28248	T=0.00074	C=0.99926
Allele Frequency Aggregator	Total	Global	18890	T=0.31016	C=0.68984
Allele Frequency Aggregator	European	Sub	14286	T=0.37414	C=0.62586
Allele Frequency Aggregator	African	Sub	2946	T=0.0553	C=0.9447
Allele Frequency Aggregator	Other	Sub	692	T=0.259	C=0.741
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.172	C=0.828
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.233	C=0.767
Allele Frequency Aggregator	Asian	Sub	112	T=0.000	C=1.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.34	C=0.66
8.3KJPN	JAPANESE	Study-wide	16758	T=0.00101	C=0.99899
1000Genomes_30x	Global	Study-wide	6404	T=0.1663	C=0.8337
1000Genomes_30x	African	Sub	1786	T=0.0112	C=0.9888
1000Genomes_30x	Europe	Sub	1266	T=0.3618	C=0.6382
1000Genomes_30x	South Asian	Sub	1202	T=0.3087	C=0.6913
1000Genomes_30x	East Asian	Sub	1170	T=0.0162	C=0.9838
1000Genomes_30x	American	Sub	980	T=0.201	C=0.799
1000Genomes	Global	Study-wide	5008	T=0.1659	C=0.8341
1000Genomes	African	Sub	1322	T=0.0136	C=0.9864
1000Genomes	East Asian	Sub	1008	T=0.0169	C=0.9831
1000Genomes	Europe	Sub	1006	T=0.3579	C=0.6421
1000Genomes	South Asian	Sub	978	T=0.309	C=0.691
1000Genomes	American	Sub	694	T=0.193	C=0.807
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3915	C=0.6085
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3521	C=0.6479
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3633	C=0.6367
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0041	A=0.0000, C=0.9959, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0011	C=0.9989
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.351	C=0.649
Northern Sweden	ACPOP	Study-wide	600	T=0.352	C=0.648
SGDP_PRJ	Global	Study-wide	528	T=0.134	C=0.866
Qatari	Global	Study-wide	216	T=0.347	C=0.653
Siberian	Global	Study-wide	52	T=0.25	C=0.75
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	46	T=0.30	C=0.70
The Danish reference pan genome	Danish	Study-wide	40	T=0.35	C=0.65

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.155123274T>A
GRCh38.p14 chr 1	NC_000001.11:g.155123274T>C
GRCh38.p14 chr 1	NC_000001.11:g.155123274T>G
GRCh37.p13 chr 1	NC_000001.10:g.155095750T>A
GRCh37.p13 chr 1	NC_000001.10:g.155095750T>C
GRCh37.p13 chr 1	NC_000001.10:g.155095750T>G

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	C	G
GRCh38.p14 chr 1	NC_000001.11:g.155123274=	NC_000001.11:g.155123274T>A	NC_000001.11:g.155123274T>C	NC_000001.11:g.155123274T>G
GRCh37.p13 chr 1	NC_000001.10:g.155095750=	NC_000001.10:g.155095750T>A	NC_000001.10:g.155095750T>C	NC_000001.10:g.155095750T>G

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#.

78 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13986032	Dec 05, 2003 (119)
2	SC_SNP	ss14769461	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss17362047	Feb 27, 2004 (120)
4	SSAHASNP	ss20573481	Apr 05, 2004 (123)
5	HGSV	ss83241487	Dec 14, 2007 (130)
6	HGSV	ss83632807	Dec 14, 2007 (130)
7	HGSV	ss85371553	Dec 14, 2007 (130)
8	BCMHGSC_JDW	ss87825813	Mar 23, 2008 (129)
9	HUMANGENOME_JCVI	ss97975037	Feb 04, 2009 (130)
10	BGI	ss102785947	Dec 01, 2009 (131)
11	1000GENOMES	ss108602156	Jan 23, 2009 (130)
12	ILLUMINA-UK	ss119034262	Dec 01, 2009 (131)
13	ENSEMBL	ss138083898	Dec 01, 2009 (131)
14	ENSEMBL	ss139209745	Dec 01, 2009 (131)
15	GMI	ss155757237	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss164127244	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss165226281	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss167138133	Jul 04, 2010 (132)
19	BUSHMAN	ss199090683	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss205436351	Jul 04, 2010 (132)
21	1000GENOMES	ss218652926	Jul 14, 2010 (132)
22	1000GENOMES	ss230733196	Jul 14, 2010 (132)
23	1000GENOMES	ss238380744	Jul 15, 2010 (132)
24	GMI	ss276052332	May 04, 2012 (137)
25	GMI	ss284153273	Apr 25, 2013 (138)
26	PJP	ss290637765	May 09, 2011 (134)
27	TISHKOFF	ss554699651	Apr 25, 2013 (138)
28	SSMP	ss648416083	Apr 25, 2013 (138)
29	EVA-GONL	ss975685978	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1068271900	Aug 21, 2014 (142)
31	1000GENOMES	ss1292939572	Aug 21, 2014 (142)
32	DDI	ss1425979929	Apr 01, 2015 (144)
33	EVA_GENOME_DK	ss1574394128	Apr 01, 2015 (144)
34	EVA_DECODE	ss1585067630	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1601221518	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1644215551	Apr 01, 2015 (144)
37	HAMMER_LAB	ss1795096966	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1918919887	Feb 12, 2016 (147)
39	GENOMED	ss1966868217	Jul 19, 2016 (147)
40	JJLAB	ss2019975419	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2148000211	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2166571774	Dec 20, 2016 (150)
43	SYSTEMSBIOZJU	ss2624495669	Nov 08, 2017 (151)
44	GRF	ss2697973047	Nov 08, 2017 (151)
45	GNOMAD	ss2761357479	Nov 08, 2017 (151)
46	AFFY	ss2985525257	Nov 08, 2017 (151)
47	SWEGEN	ss2987757615	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3023744920	Nov 08, 2017 (151)
49	CSHL	ss3343712072	Nov 08, 2017 (151)
50	URBANLAB	ss3646791986	Oct 11, 2018 (152)
51	EGCUT_WGS	ss3655698182	Jul 12, 2019 (153)
52	EVA_DECODE	ss3687789615	Jul 12, 2019 (153)
53	ACPOP	ss3727488440	Jul 12, 2019 (153)
54	EVA	ss3746812460	Jul 12, 2019 (153)
55	PACBIO	ss3783567266	Jul 12, 2019 (153)
56	PACBIO	ss3789198617	Jul 12, 2019 (153)
57	PACBIO	ss3794070625	Jul 12, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3799813563	Jul 12, 2019 (153)
59	EVA	ss3826425834	Apr 25, 2020 (154)
60	EVA	ss3836607560	Apr 25, 2020 (154)
61	EVA	ss3842016793	Apr 25, 2020 (154)
62	SGDP_PRJ	ss3850013358	Apr 25, 2020 (154)
63	KRGDB	ss3895221492	Apr 25, 2020 (154)
64	KOGIC	ss3945659533	Apr 25, 2020 (154)
65	EVA	ss3984825728	Apr 25, 2021 (155)
66	TOPMED	ss4468432984	Apr 25, 2021 (155)
67	TOMMO_GENOMICS	ss5146500245	Apr 25, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5244304987	Oct 12, 2022 (156)
69	EVA	ss5322073058	Oct 12, 2022 (156)
70	HUGCELL_USP	ss5444897307	Oct 12, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5517639505	Oct 12, 2022 (156)
72	SANFORD_IMAGENETICS	ss5626597991	Oct 12, 2022 (156)
73	TOMMO_GENOMICS	ss5673701443	Oct 12, 2022 (156)
74	YY_MCH	ss5801263011	Oct 12, 2022 (156)
75	EVA	ss5832670083	Oct 12, 2022 (156)
76	EVA	ss5849110083	Oct 12, 2022 (156)
77	EVA	ss5910259826	Oct 12, 2022 (156)
78	EVA	ss5938392234	Oct 12, 2022 (156)
79	1000Genomes	NC_000001.10 - 155095750	Oct 11, 2018 (152)
80	1000Genomes_30x	NC_000001.11 - 155123274	Oct 12, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 155095750	Oct 11, 2018 (152)
82	Genetic variation in the Estonian population	NC_000001.10 - 155095750	Oct 11, 2018 (152)
83	The Danish reference pan genome	NC_000001.10 - 155095750	Apr 25, 2020 (154)
84	gnomAD - Genomes	NC_000001.11 - 155123274	Apr 25, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000001.10 - 155095750	Apr 25, 2020 (154)
86	KOREAN population from KRGDB	NC_000001.10 - 155095750	Apr 25, 2020 (154)
87	Korean Genome Project	NC_000001.11 - 155123274	Apr 25, 2020 (154)
88	Northern Sweden	NC_000001.10 - 155095750	Jul 12, 2019 (153)
89	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 155095750	Apr 25, 2021 (155)
90	Qatari	NC_000001.10 - 155095750	Apr 25, 2020 (154)
91	SGDP_PRJ	NC_000001.10 - 155095750	Apr 25, 2020 (154)
92	Siberian	NC_000001.10 - 155095750	Apr 25, 2020 (154)
93	8.3KJPN	NC_000001.10 - 155095750	Apr 25, 2021 (155)
94	14KJPN	NC_000001.11 - 155123274	Oct 12, 2022 (156)
95	TopMed	NC_000001.11 - 155123274	Apr 25, 2021 (155)
96	UK 10K study - Twins	NC_000001.10 - 155095750	Oct 11, 2018 (152)
97	ALFA	NC_000001.11 - 155123274	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)
rs12752758	Sep 24, 2004 (123)
rs57280484	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
2398886, ss3895221492	NC_000001.10:155095749:T:A	NC_000001.11:155123273:T:A	(self)
ss83241487, ss83632807, ss85371553	NC_000001.8:151908822:T:C	NC_000001.11:155123273:T:C	(self)
ss87825813, ss108602156, ss119034262, ss164127244, ss165226281, ss167138133, ss199090683, ss205436351, ss276052332, ss284153273, ss290637765, ss1585067630	NC_000001.9:153362373:T:C	NC_000001.11:155123273:T:C	(self)
3732076, 2029512, 1436430, 1709880, 881410, 2398886, 773305, 51655, 961817, 2030338, 516565, 4469552, 2029512, ss218652926, ss230733196, ss238380744, ss554699651, ss648416083, ss975685978, ss1068271900, ss1292939572, ss1425979929, ss1574394128, ss1601221518, ss1644215551, ss1795096966, ss1918919887, ss1966868217, ss2019975419, ss2148000211, ss2624495669, ss2697973047, ss2761357479, ss2985525257, ss2987757615, ss3343712072, ss3655698182, ss3727488440, ss3746812460, ss3783567266, ss3789198617, ss3794070625, ss3826425834, ss3836607560, ss3850013358, ss3895221492, ss3984825728, ss5146500245, ss5322073058, ss5626597991, ss5832670083, ss5938392234	NC_000001.10:155095749:T:C	NC_000001.11:155123273:T:C	(self)
5165440, 27158497, 2037534, 7538547, 32039319, 7417616589, ss2166571774, ss3023744920, ss3646791986, ss3687789615, ss3799813563, ss3842016793, ss3945659533, ss4468432984, ss5244304987, ss5444897307, ss5517639505, ss5673701443, ss5801263011, ss5849110083, ss5910259826	NC_000001.11:155123273:T:C	NC_000001.11:155123273:T:C	(self)
ss97975037, ss102785947, ss138083898, ss139209745, ss155757237	NT_004487.19:6584391:T:C	NC_000001.11:155123273:T:C	(self)
ss13986032, ss14769461, ss17362047, ss20573481	NT_079484.1:1545581:T:C	NC_000001.11:155123273:T:C	(self)
2398886, ss3895221492	NC_000001.10:155095749:T:G	NC_000001.11:155123273:T:G	(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 rs9330264

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

rs9330264