Name: rs9268516
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.

rs9268516

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32411712 (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=0.253387 (67069/264690, TOPMED)
T=0.239633 (33575/140110, GnomAD)
T=0.26832 (22099/82360, ALFA) (+ 19 more)
T=0.10096 (2853/28258, 14KJPN)
T=0.10078 (1689/16760, 8.3KJPN)
T=0.2121 (1358/6404, 1000G_30x)
T=0.2095 (1049/5008, 1000G)
T=0.1859 (833/4480, Estonian)
T=0.3241 (1249/3854, ALSPAC)
T=0.3099 (1149/3708, TWINSUK)
T=0.1942 (569/2930, KOREAN)
T=0.1794 (339/1890, HapMap)
T=0.2934 (331/1128, Daghestan)
T=0.269 (268/998, GoNL)
T=0.182 (142/782, PRJEB37584)
T=0.327 (196/600, NorthernSweden)
T=0.194 (42/216, Qatari)
T=0.102 (22/216, Vietnamese)
C=0.438 (91/208, SGDP_PRJ)
T=0.17 (16/94, Ancient Sardinia)
T=0.30 (12/40, GENOME_DK)
C=0.42 (15/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 3 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	82360	C=0.73168	T=0.26832
European	Sub	65320	C=0.72731	T=0.27269
African	Sub	6456	C=0.8199	T=0.1801
African Others	Sub	216	C=0.889	T=0.111
African American	Sub	6240	C=0.8175	T=0.1825
Asian	Sub	442	C=0.803	T=0.197
East Asian	Sub	378	C=0.804	T=0.196
Other Asian	Sub	64	C=0.80	T=0.20
Latin American 1	Sub	278	C=0.716	T=0.284
Latin American 2	Sub	4966	C=0.6887	T=0.3113
South Asian	Sub	150	C=0.753	T=0.247
Other	Sub	4748	C=0.7104	T=0.2896

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	C=0.746613	T=0.253387
gnomAD - Genomes	Global	Study-wide	140110	C=0.760367	T=0.239633
gnomAD - Genomes	European	Sub	75872	C=0.73801	T=0.26199
gnomAD - Genomes	African	Sub	41990	C=0.81746	T=0.18254
gnomAD - Genomes	American	Sub	13650	C=0.70879	T=0.29121
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6993	T=0.3007
gnomAD - Genomes	East Asian	Sub	3128	C=0.8405	T=0.1595
gnomAD - Genomes	Other	Sub	2148	C=0.7398	T=0.2602
Allele Frequency Aggregator	Total	Global	82360	C=0.73168	T=0.26832
Allele Frequency Aggregator	European	Sub	65320	C=0.72731	T=0.27269
Allele Frequency Aggregator	African	Sub	6456	C=0.8199	T=0.1801
Allele Frequency Aggregator	Latin American 2	Sub	4966	C=0.6887	T=0.3113
Allele Frequency Aggregator	Other	Sub	4748	C=0.7104	T=0.2896
Allele Frequency Aggregator	Asian	Sub	442	C=0.803	T=0.197
Allele Frequency Aggregator	Latin American 1	Sub	278	C=0.716	T=0.284
Allele Frequency Aggregator	South Asian	Sub	150	C=0.753	T=0.247
14KJPN	JAPANESE	Study-wide	28258	C=0.89904	T=0.10096
8.3KJPN	JAPANESE	Study-wide	16760	C=0.89922	T=0.10078
1000Genomes_30x	Global	Study-wide	6404	C=0.7879	T=0.2121
1000Genomes_30x	African	Sub	1786	C=0.8270	T=0.1730
1000Genomes_30x	Europe	Sub	1266	C=0.7141	T=0.2859
1000Genomes_30x	South Asian	Sub	1202	C=0.7845	T=0.2155
1000Genomes_30x	East Asian	Sub	1170	C=0.8940	T=0.1060
1000Genomes_30x	American	Sub	980	C=0.690	T=0.310
1000Genomes	Global	Study-wide	5008	C=0.7905	T=0.2095
1000Genomes	African	Sub	1322	C=0.8328	T=0.1672
1000Genomes	East Asian	Sub	1008	C=0.8829	T=0.1171
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=0.684	T=0.316
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8141	T=0.1859
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6759	T=0.3241
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6901	T=0.3099
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8058	T=0.1942
HapMap	Global	Study-wide	1890	C=0.8206	T=0.1794
HapMap	American	Sub	770	C=0.752	T=0.248
HapMap	African	Sub	692	C=0.893	T=0.107
HapMap	Asian	Sub	252	C=0.865	T=0.135
HapMap	Europe	Sub	176	C=0.773	T=0.227
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	C=0.7066	T=0.2934
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	C=0.643	T=0.357
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.792	T=0.208
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.795	T=0.205
Genome-wide autozygosity in Daghestan	Europe	Sub	106	C=0.792	T=0.208
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.75	T=0.25
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.81	T=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.731	T=0.269
CNV burdens in cranial meningiomas	Global	Study-wide	782	C=0.818	T=0.182
CNV burdens in cranial meningiomas	CRM	Sub	782	C=0.818	T=0.182
Northern Sweden	ACPOP	Study-wide	600	C=0.673	T=0.327
Qatari	Global	Study-wide	216	C=0.806	T=0.194
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.898	T=0.102
SGDP_PRJ	Global	Study-wide	208	C=0.438	T=0.562
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	94	C=0.83	T=0.17
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30
Siberian	Global	Study-wide	36	C=0.42	T=0.58

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 6	NC_000006.12:g.32411712C>T
GRCh37.p13 chr 6	NC_000006.11:g.32379489C>T
BTNL2 RefSeqGene	NG_054759.1:g.2168G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3849787C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3849893C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3743942C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3693858C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3634760C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3640356C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3715940T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3721560T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3726850T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3726148T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3752678T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3758263T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3652001C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3657586C>T
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.43033G>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	C=	T
GRCh38.p14 chr 6	NC_000006.12:g.32411712=	NC_000006.12:g.32411712C>T
GRCh37.p13 chr 6	NC_000006.11:g.32379489=	NC_000006.11:g.32379489C>T
BTNL2 RefSeqGene	NG_054759.1:g.2168=	NG_054759.1:g.2168G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3849787=	NT_113891.3:g.3849787C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3849893=	NT_113891.2:g.3849893C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3743942=	NT_167244.2:g.3743942C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3693858=	NT_167244.1:g.3693858C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3634760=	NT_167248.2:g.3634760C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3640356=	NT_167248.1:g.3640356C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3715940T>C	NT_167246.2:g.3715940=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3721560T>C	NT_167246.1:g.3721560=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3726850T>C	NT_167249.2:g.3726850=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3726148T>C	NT_167249.1:g.3726148=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3752678T>C	NT_167247.2:g.3752678=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3758263T>C	NT_167247.1:g.3758263=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3652001=	NT_167245.2:g.3652001C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3657586=	NT_167245.1:g.3657586C>T
GRCh38.p14 chr 6 alt locus HSCHR6_8_CTG1	NT_187692.1:g.43033=	NT_187692.1:g.43033G>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#.

113 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12693325	Oct 31, 2003 (118)
2	FHCRC	ss23138318	Sep 20, 2004 (126)
3	KRIBB_YJKIM	ss65847637	Nov 30, 2006 (127)
4	ILLUMINA	ss75265258	Dec 06, 2007 (129)
5	BCMHGSC_JDW	ss93437825	Mar 24, 2008 (129)
6	HUMANGENOME_JCVI	ss98487604	Feb 06, 2009 (130)
7	KRIBB_YJKIM	ss119587308	Dec 01, 2009 (131)
8	ENSEMBL	ss139522443	Dec 01, 2009 (131)
9	GMI	ss156753591	Dec 01, 2009 (131)
10	ILLUMINA	ss160970543	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss162203541	Jul 04, 2010 (135)
12	ILLUMINA	ss174789881	Jul 04, 2010 (135)
13	BUSHMAN	ss201632714	Jul 04, 2010 (135)
14	BCM-HGSC-SUB	ss207599405	Jul 04, 2010 (135)
15	1000GENOMES	ss222307116	Jul 14, 2010 (137)
16	1000GENOMES	ss233401945	Jul 14, 2010 (137)
17	1000GENOMES	ss240472746	Jul 15, 2010 (137)
18	GMI	ss278730405	May 04, 2012 (137)
19	GMI	ss285375524	Apr 25, 2013 (138)
20	PJP	ss293827441	May 09, 2011 (137)
21	ILLUMINA	ss481848539	May 04, 2012 (137)
22	ILLUMINA	ss481881254	May 04, 2012 (137)
23	ILLUMINA	ss482840317	Sep 08, 2015 (146)
24	ILLUMINA	ss485718702	May 04, 2012 (137)
25	ILLUMINA	ss537579375	Sep 08, 2015 (146)
26	TISHKOFF	ss559117897	Apr 25, 2013 (138)
27	SSMP	ss653040658	Apr 25, 2013 (138)
28	ILLUMINA	ss779004616	Sep 08, 2015 (146)
29	ILLUMINA	ss783305004	Sep 08, 2015 (146)
30	ILLUMINA	ss784257207	Sep 08, 2015 (146)
31	ILLUMINA	ss832566392	Sep 08, 2015 (146)
32	ILLUMINA	ss834467023	Sep 08, 2015 (146)
33	EVA-GONL	ss982773693	Aug 21, 2014 (142)
34	JMKIDD_LAB	ss1073510383	Aug 21, 2014 (142)
35	1000GENOMES	ss1319579090	Aug 21, 2014 (142)
36	HAMMER_LAB	ss1397450663	Sep 08, 2015 (146)
37	EVA_GENOME_DK	ss1581609994	Apr 01, 2015 (144)
38	EVA_DECODE	ss1592317255	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1615289055	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1658283088	Apr 01, 2015 (144)
41	EVA_SVP	ss1712852114	Apr 01, 2015 (144)
42	ILLUMINA	ss1752630812	Sep 08, 2015 (146)
43	HAMMER_LAB	ss1804361016	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1926025792	Feb 12, 2016 (147)
45	ILLUMINA	ss1958891563	Feb 12, 2016 (147)
46	GENOMED	ss1970359337	Jul 19, 2016 (147)
47	JJLAB	ss2023646722	Sep 14, 2016 (149)
48	ILLUMINA	ss2094825861	Dec 20, 2016 (150)
49	ILLUMINA	ss2095179193	Dec 20, 2016 (150)
50	USC_VALOUEV	ss2151814179	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2282983267	Dec 20, 2016 (150)
52	ILLUMINA	ss2634432417	Nov 08, 2017 (151)
53	GRF	ss2707408244	Nov 08, 2017 (151)
54	AFFY	ss2985995659	Nov 08, 2017 (151)
55	SWEGEN	ss2998807983	Nov 08, 2017 (151)
56	ILLUMINA	ss3022602510	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3025610545	Nov 08, 2017 (151)
58	ILLUMINA	ss3629508838	Oct 12, 2018 (152)
59	ILLUMINA	ss3632350624	Oct 12, 2018 (152)
60	ILLUMINA	ss3633416437	Oct 12, 2018 (152)
61	ILLUMINA	ss3634139017	Oct 12, 2018 (152)
62	ILLUMINA	ss3635059139	Oct 12, 2018 (152)
63	ILLUMINA	ss3635819989	Oct 12, 2018 (152)
64	ILLUMINA	ss3636780291	Oct 12, 2018 (152)
65	ILLUMINA	ss3637572782	Oct 12, 2018 (152)
66	ILLUMINA	ss3638621412	Oct 12, 2018 (152)
67	ILLUMINA	ss3640766438	Oct 12, 2018 (152)
68	ILLUMINA	ss3643562982	Oct 12, 2018 (152)
69	URBANLAB	ss3648311719	Oct 12, 2018 (152)
70	ILLUMINA	ss3653115729	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3666721297	Jul 13, 2019 (153)
72	EVA_DECODE	ss3716921770	Jul 13, 2019 (153)
73	ILLUMINA	ss3726332528	Jul 13, 2019 (153)
74	ACPOP	ss3733368494	Jul 13, 2019 (153)
75	ILLUMINA	ss3745359109	Jul 13, 2019 (153)
76	EVA	ss3764831169	Jul 13, 2019 (153)
77	ILLUMINA	ss3772852784	Jul 13, 2019 (153)
78	PACBIO	ss3785427617	Jul 13, 2019 (153)
79	PACBIO	ss3790786714	Jul 13, 2019 (153)
80	PACBIO	ss3795664227	Jul 13, 2019 (153)
81	KHV_HUMAN_GENOMES	ss3807985940	Jul 13, 2019 (153)
82	EVA	ss3829836768	Apr 26, 2020 (154)
83	EVA	ss3838396982	Apr 26, 2020 (154)
84	EVA	ss3843839210	Apr 26, 2020 (154)
85	SGDP_PRJ	ss3864268067	Apr 26, 2020 (154)
86	KRGDB	ss3911045424	Apr 26, 2020 (154)
87	EVA	ss3984566298	Apr 26, 2021 (155)
88	EVA	ss3985214158	Apr 26, 2021 (155)
89	EVA	ss4017267573	Apr 26, 2021 (155)
90	VINODS	ss4025230756	Apr 26, 2021 (155)
91	VINODS	ss4025249606	Apr 26, 2021 (155)
92	VINODS	ss4025289217	Apr 26, 2021 (155)
93	TOPMED	ss4698555460	Apr 26, 2021 (155)
94	TOMMO_GENOMICS	ss5176864116	Apr 26, 2021 (155)
95	EVA	ss5237395263	Apr 26, 2021 (155)
96	1000G_HIGH_COVERAGE	ss5267956371	Oct 17, 2022 (156)
97	EVA	ss5315143857	Oct 17, 2022 (156)
98	EVA	ss5364755871	Oct 17, 2022 (156)
99	HUGCELL_USP	ss5465687572	Oct 17, 2022 (156)
100	EVA	ss5508432841	Oct 17, 2022 (156)
101	1000G_HIGH_COVERAGE	ss5553619886	Oct 17, 2022 (156)
102	SANFORD_IMAGENETICS	ss5624624848	Oct 17, 2022 (156)
103	SANFORD_IMAGENETICS	ss5640101625	Oct 17, 2022 (156)
104	TOMMO_GENOMICS	ss5714727884	Oct 17, 2022 (156)
105	EVA	ss5799684402	Oct 17, 2022 (156)
106	YY_MCH	ss5807315177	Oct 17, 2022 (156)
107	EVA	ss5842037000	Oct 17, 2022 (156)
108	EVA	ss5847291809	Oct 17, 2022 (156)
109	EVA	ss5848091162	Oct 17, 2022 (156)
110	EVA	ss5855287605	Oct 17, 2022 (156)
111	EVA	ss5883264164	Oct 17, 2022 (156)
112	EVA	ss5968603394	Oct 17, 2022 (156)
113	EVA	ss5979781416	Oct 17, 2022 (156)
114	1000Genomes	NC_000006.11 - 32379489	Oct 12, 2018 (152)
115	1000Genomes_30x	NC_000006.12 - 32411712	Oct 17, 2022 (156)
116	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32379489	Oct 12, 2018 (152)
117	Genome-wide autozygosity in Daghestan	NC_000006.10 - 32487467	Apr 26, 2020 (154)
118	Genetic variation in the Estonian population	NC_000006.11 - 32379489	Oct 12, 2018 (152)
119	The Danish reference pan genome	NC_000006.11 - 32379489	Apr 26, 2020 (154)
120	gnomAD - Genomes	NC_000006.12 - 32411712	Apr 26, 2021 (155)
121	Genome of the Netherlands Release 5	NC_000006.11 - 32379489	Apr 26, 2020 (154)
122	HapMap	NC_000006.12 - 32411712	Apr 26, 2020 (154)
123	KOREAN population from KRGDB	NC_000006.11 - 32379489	Apr 26, 2020 (154)
124	Northern Sweden	NC_000006.11 - 32379489	Jul 13, 2019 (153)
125	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 32379489	Apr 26, 2021 (155)
126	CNV burdens in cranial meningiomas	NC_000006.11 - 32379489	Apr 26, 2021 (155)
127	Qatari	NC_000006.11 - 32379489	Apr 26, 2020 (154)
128	SGDP_PRJ	NC_000006.11 - 32379489	Apr 26, 2020 (154)
129	Siberian	NC_000006.11 - 32379489	Apr 26, 2020 (154)
130	8.3KJPN	NC_000006.11 - 32379489	Apr 26, 2021 (155)
131	14KJPN	NC_000006.12 - 32411712	Oct 17, 2022 (156)
132	TopMed	NC_000006.12 - 32411712	Apr 26, 2021 (155)
133	UK 10K study - Twins	NC_000006.11 - 32379489	Oct 12, 2018 (152)
134	A Vietnamese Genetic Variation Database	NC_000006.11 - 32379489	Jul 13, 2019 (153)
135	ALFA	NC_000006.12 - 32411712	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)
rs17202554	Mar 10, 2006 (126)
rs111593633	Sep 17, 2011 (135)
rs113405935	Sep 17, 2011 (135)
rs116335396	May 04, 2012 (137)
rs118114240	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
425311, ss93437825, ss162203541, ss201632714, ss207599405, ss278730405, ss285375524, ss293827441, ss481848539, ss1397450663, ss1592317255, ss1712852114, ss3643562982	NC_000006.10:32487466:C:T	NC_000006.12:32411711:C:T	(self)
31347461, 17479989, 12459545, 7774933, 7772023, 18222818, 6653359, 440085, 115703, 8067722, 16285047, 4330533, 34833423, 17479989, 3877414, ss222307116, ss233401945, ss240472746, ss481881254, ss482840317, ss485718702, ss537579375, ss559117897, ss653040658, ss779004616, ss783305004, ss784257207, ss832566392, ss834467023, ss982773693, ss1073510383, ss1319579090, ss1581609994, ss1615289055, ss1658283088, ss1752630812, ss1804361016, ss1926025792, ss1958891563, ss1970359337, ss2023646722, ss2094825861, ss2095179193, ss2151814179, ss2634432417, ss2707408244, ss2985995659, ss2998807983, ss3022602510, ss3629508838, ss3632350624, ss3633416437, ss3634139017, ss3635059139, ss3635819989, ss3636780291, ss3637572782, ss3638621412, ss3640766438, ss3653115729, ss3666721297, ss3733368494, ss3745359109, ss3764831169, ss3772852784, ss3785427617, ss3790786714, ss3795664227, ss3829836768, ss3838396982, ss3864268067, ss3911045424, ss3984566298, ss3985214158, ss4017267573, ss5176864116, ss5237395263, ss5315143857, ss5364755871, ss5508432841, ss5624624848, ss5640101625, ss5799684402, ss5842037000, ss5847291809, ss5848091162, ss5968603394, ss5979781416	NC_000006.11:32379488:C:T	NC_000006.12:32411711:C:T	(self)
41145821, 221366613, 3101984, 48564988, 535933018, 7036411075, ss2282983267, ss3025610545, ss3648311719, ss3716921770, ss3726332528, ss3807985940, ss3843839210, ss4698555460, ss5267956371, ss5465687572, ss5553619886, ss5714727884, ss5807315177, ss5855287605, ss5883264164	NC_000006.12:32411711:C:T	NC_000006.12:32411711:C:T	(self)
ss12693325, ss23138318, ss65847637, ss75265258, ss98487604, ss119587308, ss139522443, ss156753591, ss160970543, ss174789881	NT_007592.15:32319488:C:T	NC_000006.12:32411711:C:T	(self)
ss4025230756	NT_167246.2:3715939:T:T	NC_000006.12:32411711:C:T	(self)
ss4025249606	NT_167247.2:3752677:T:T	NC_000006.12:32411711:C:T	(self)
ss4025289217	NT_167249.2:3726849:T:T	NC_000006.12:32411711:C:T	(self)

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

3 citations for rs9268516

PMID	Title	Author	Year	Journal
23028483	Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.	Ramasamy A et al.	2012	PloS one
23755072	Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma.	Li L et al.	2013	Frontiers in genetics
30154825	To ERV Is Human: A Phenotype-Wide Scan Linking Polymorphic Human Endogenous Retrovirus-K Insertions to Complex Phenotypes.	Wallace AD et al.	2018	Frontiers in genetics

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9268516