Name: rs213006
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.

rs213006

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:21352107 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.324806 (85973/264690, TOPMED)
G=0.310192 (63613/205076, GENOGRAPHIC)
G=0.308300 (61298/198826, ALFA) (+ 19 more)
G=0.08702 (2459/28258, 14KJPN)
G=0.08508 (1426/16760, 8.3KJPN)
G=0.3250 (2081/6404, 1000G_30x)
G=0.3171 (1588/5008, 1000G)
G=0.2888 (1294/4480, Estonian)
G=0.3259 (1256/3854, ALSPAC)
G=0.3069 (1138/3708, TWINSUK)
G=0.0732 (214/2922, KOREAN)
G=0.3314 (690/2082, HGDP_Stanford)
G=0.3531 (668/1892, HapMap)
G=0.0857 (157/1832, Korea1K)
G=0.324 (323/998, GoNL)
G=0.335 (201/600, NorthernSweden)
T=0.383 (121/316, SGDP_PRJ)
G=0.412 (89/216, Qatari)
G=0.220 (47/214, Vietnamese)
G=0.35 (14/40, GENOME_DK)
G=0.17 (6/36, Ancient Sardinia)
T=0.44 (8/18, 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	198826	T=0.691700	A=0.000000, G=0.308300
European	Sub	171090	T=0.694658	A=0.000000, G=0.305342
African	Sub	8294	T=0.6549	A=0.0000, G=0.3451
African Others	Sub	298	T=0.631	A=0.000, G=0.369
African American	Sub	7996	T=0.6558	A=0.0000, G=0.3442
Asian	Sub	672	T=0.876	A=0.000, G=0.124
East Asian	Sub	536	T=0.882	A=0.000, G=0.118
Other Asian	Sub	136	T=0.853	A=0.000, G=0.147
Latin American 1	Sub	762	T=0.709	A=0.000, G=0.291
Latin American 2	Sub	6592	T=0.7010	A=0.0000, G=0.2990
South Asian	Sub	4982	T=0.6246	A=0.0000, G=0.3754
Other	Sub	6434	T=0.6815	A=0.0000, G=0.3185

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=0.675194	G=0.324806
Genographic Project	Global	Study-wide	205076	T=0.689808	G=0.310192
Allele Frequency Aggregator	Total	Global	198826	T=0.691700	A=0.000000, G=0.308300
Allele Frequency Aggregator	European	Sub	171090	T=0.694658	A=0.000000, G=0.305342
Allele Frequency Aggregator	African	Sub	8294	T=0.6549	A=0.0000, G=0.3451
Allele Frequency Aggregator	Latin American 2	Sub	6592	T=0.7010	A=0.0000, G=0.2990
Allele Frequency Aggregator	Other	Sub	6434	T=0.6815	A=0.0000, G=0.3185
Allele Frequency Aggregator	South Asian	Sub	4982	T=0.6246	A=0.0000, G=0.3754
Allele Frequency Aggregator	Latin American 1	Sub	762	T=0.709	A=0.000, G=0.291
Allele Frequency Aggregator	Asian	Sub	672	T=0.876	A=0.000, G=0.124
14KJPN	JAPANESE	Study-wide	28258	T=0.91298	G=0.08702
8.3KJPN	JAPANESE	Study-wide	16760	T=0.91492	G=0.08508
1000Genomes_30x	Global	Study-wide	6404	T=0.6750	G=0.3250
1000Genomes_30x	African	Sub	1786	T=0.5845	G=0.4155
1000Genomes_30x	Europe	Sub	1266	T=0.6959	G=0.3041
1000Genomes_30x	South Asian	Sub	1202	T=0.6040	G=0.3960
1000Genomes_30x	East Asian	Sub	1170	T=0.8726	G=0.1274
1000Genomes_30x	American	Sub	980	T=0.664	G=0.336
1000Genomes	Global	Study-wide	5008	T=0.6829	G=0.3171
1000Genomes	African	Sub	1322	T=0.5915	G=0.4085
1000Genomes	East Asian	Sub	1008	T=0.8730	G=0.1270
1000Genomes	Europe	Sub	1006	T=0.6879	G=0.3121
1000Genomes	South Asian	Sub	978	T=0.621	G=0.379
1000Genomes	American	Sub	694	T=0.661	G=0.339
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7112	G=0.2888
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6741	G=0.3259
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6931	G=0.3069
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9268	G=0.0732
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.6686	G=0.3314
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.857	G=0.143
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.604	G=0.396
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	T=0.595	G=0.405
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.634	G=0.366
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.562	G=0.438
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.685	G=0.315
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.62	G=0.38
HapMap	Global	Study-wide	1892	T=0.6469	G=0.3531
HapMap	American	Sub	770	T=0.683	G=0.317
HapMap	African	Sub	692	T=0.509	G=0.491
HapMap	Asian	Sub	254	T=0.909	G=0.091
HapMap	Europe	Sub	176	T=0.653	G=0.347
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9143	G=0.0857
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.676	G=0.324
Northern Sweden	ACPOP	Study-wide	600	T=0.665	G=0.335
SGDP_PRJ	Global	Study-wide	316	T=0.383	G=0.617
Qatari	Global	Study-wide	216	T=0.588	G=0.412
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.780	G=0.220
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	G=0.35
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	36	T=0.83	G=0.17
Siberian	Global	Study-wide	18	T=0.44	G=0.56

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.21352107T>A
GRCh38.p14 chr 1	NC_000001.11:g.21352107T>G
GRCh37.p13 chr 1	NC_000001.10:g.21678600T>A
GRCh37.p13 chr 1	NC_000001.10:g.21678600T>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	G
GRCh38.p14 chr 1	NC_000001.11:g.21352107=	NC_000001.11:g.21352107T>A	NC_000001.11:g.21352107T>G
GRCh37.p13 chr 1	NC_000001.10:g.21678600=	NC_000001.10:g.21678600T>A	NC_000001.10:g.21678600T>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#.

128 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss278234	Jul 12, 2000 (79)
2	SC_JCM	ss672721	Aug 11, 2000 (85)
3	KWOK	ss1027629	Oct 13, 2000 (89)
4	KWOK	ss1737152	Oct 18, 2000 (89)
5	TSC-CSHL	ss2412660	Oct 24, 2000 (92)
6	SC_JCM	ss2579257	Nov 09, 2000 (92)
7	ACEVAN	ss4257607	Jan 04, 2002 (102)
8	SSAHASNP	ss20443345	Apr 05, 2004 (121)
9	ABI	ss44074028	Mar 14, 2006 (126)
10	ILLUMINA	ss65722683	Oct 16, 2006 (127)
11	ILLUMINA	ss66643481	Dec 02, 2006 (127)
12	ILLUMINA	ss67226802	Dec 02, 2006 (127)
13	ILLUMINA	ss67621811	Dec 02, 2006 (127)
14	PERLEGEN	ss68760930	May 18, 2007 (127)
15	ILLUMINA	ss70705107	May 25, 2008 (130)
16	ILLUMINA	ss71271713	May 18, 2007 (127)
17	ILLUMINA	ss75525101	Dec 06, 2007 (129)
18	ILLUMINA	ss79115655	Dec 15, 2007 (130)
19	HGSV	ss81618239	Dec 15, 2007 (130)
20	KRIBB_YJKIM	ss83388168	Dec 15, 2007 (130)
21	BCMHGSC_JDW	ss87286640	Mar 23, 2008 (129)
22	HUMANGENOME_JCVI	ss97924089	Feb 05, 2009 (130)
23	BGI	ss102726067	Dec 01, 2009 (131)
24	1000GENOMES	ss110161953	Jan 24, 2009 (130)
25	ILLUMINA-UK	ss118552054	Feb 14, 2009 (130)
26	ILLUMINA	ss120244565	Dec 01, 2009 (131)
27	ILLUMINA	ss121923420	Dec 01, 2009 (131)
28	ENSEMBL	ss137836840	Dec 01, 2009 (131)
29	ENSEMBL	ss139067944	Dec 01, 2009 (131)
30	ILLUMINA	ss153860482	Dec 01, 2009 (131)
31	ILLUMINA	ss159360922	Dec 01, 2009 (131)
32	ILLUMINA	ss160505105	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss163163766	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss166213460	Jul 04, 2010 (132)
35	ILLUMINA	ss171033650	Jul 04, 2010 (132)
36	ILLUMINA	ss173131180	Jul 04, 2010 (132)
37	BUSHMAN	ss198142683	Jul 04, 2010 (132)
38	BCM-HGSC-SUB	ss205184618	Jul 04, 2010 (132)
39	1000GENOMES	ss210448193	Jul 14, 2010 (132)
40	1000GENOMES	ss218275681	Jul 14, 2010 (132)
41	1000GENOMES	ss230456596	Jul 14, 2010 (132)
42	1000GENOMES	ss238165679	Jul 15, 2010 (132)
43	ILLUMINA	ss244255251	Jul 04, 2010 (132)
44	GMI	ss275747114	May 04, 2012 (137)
45	PJP	ss290782966	May 09, 2011 (134)
46	ILLUMINA	ss480433462	May 04, 2012 (137)
47	ILLUMINA	ss480447057	May 04, 2012 (137)
48	ILLUMINA	ss481235028	Sep 08, 2015 (146)
49	ILLUMINA	ss485014147	May 04, 2012 (137)
50	ILLUMINA	ss537042612	Sep 08, 2015 (146)
51	TISHKOFF	ss553875074	Apr 25, 2013 (138)
52	SSMP	ss647630003	Apr 25, 2013 (138)
53	ILLUMINA	ss778855590	Sep 08, 2015 (146)
54	ILLUMINA	ss782953385	Sep 08, 2015 (146)
55	ILLUMINA	ss783915595	Sep 08, 2015 (146)
56	ILLUMINA	ss825446173	Apr 01, 2015 (144)
57	ILLUMINA	ss832209377	Sep 08, 2015 (146)
58	ILLUMINA	ss832872812	Jul 12, 2019 (153)
59	ILLUMINA	ss834316300	Sep 08, 2015 (146)
60	EVA-GONL	ss974931330	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1067724369	Aug 21, 2014 (142)
62	1000GENOMES	ss1289978563	Aug 21, 2014 (142)
63	DDI	ss1425740561	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1573931820	Apr 01, 2015 (144)
65	EVA_DECODE	ss1584289844	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1599697871	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1642691904	Apr 01, 2015 (144)
68	EVA_SVP	ss1712316874	Apr 01, 2015 (144)
69	ILLUMINA	ss1751898488	Sep 08, 2015 (146)
70	HAMMER_LAB	ss1794037242	Sep 08, 2015 (146)
71	WEILL_CORNELL_DGM	ss1918142852	Feb 12, 2016 (147)
72	GENOMED	ss1966701790	Jul 19, 2016 (147)
73	AMU	ss1971465194	Jul 19, 2016 (147)
74	JJLAB	ss2019583224	Sep 14, 2016 (149)
75	USC_VALOUEV	ss2147587289	Dec 20, 2016 (150)
76	HUMAN_LONGEVITY	ss2160610767	Dec 20, 2016 (150)
77	ILLUMINA	ss2632487881	Nov 08, 2017 (151)
78	GRF	ss2697491997	Nov 08, 2017 (151)
79	GNOMAD	ss2752501818	Nov 08, 2017 (151)
80	AFFY	ss2984848768	Nov 08, 2017 (151)
81	SWEGEN	ss2986441514	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3023556805	Nov 08, 2017 (151)
83	CSHL	ss3343360094	Nov 08, 2017 (151)
84	ILLUMINA	ss3626044756	Oct 11, 2018 (152)
85	ILLUMINA	ss3630525639	Oct 11, 2018 (152)
86	ILLUMINA	ss3632883759	Oct 11, 2018 (152)
87	ILLUMINA	ss3633577789	Oct 11, 2018 (152)
88	ILLUMINA	ss3634311653	Oct 11, 2018 (152)
89	ILLUMINA	ss3635271836	Oct 11, 2018 (152)
90	ILLUMINA	ss3635987840	Oct 11, 2018 (152)
91	ILLUMINA	ss3637022216	Oct 11, 2018 (152)
92	ILLUMINA	ss3637742096	Oct 11, 2018 (152)
93	ILLUMINA	ss3638891995	Oct 11, 2018 (152)
94	ILLUMINA	ss3639443043	Oct 11, 2018 (152)
95	ILLUMINA	ss3640019017	Oct 11, 2018 (152)
96	ILLUMINA	ss3642755489	Oct 11, 2018 (152)
97	URBANLAB	ss3646618767	Oct 11, 2018 (152)
98	EGCUT_WGS	ss3654512204	Jul 12, 2019 (153)
99	EVA_DECODE	ss3686316201	Jul 12, 2019 (153)
100	ACPOP	ss3726856609	Jul 12, 2019 (153)
101	ILLUMINA	ss3744612613	Jul 12, 2019 (153)
102	EVA	ss3745923071	Jul 12, 2019 (153)
103	ILLUMINA	ss3772114178	Jul 12, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3798942477	Jul 12, 2019 (153)
105	EVA	ss3826063112	Apr 25, 2020 (154)
106	HGDP	ss3847326884	Apr 25, 2020 (154)
107	SGDP_PRJ	ss3848375077	Apr 25, 2020 (154)
108	KRGDB	ss3893286562	Apr 25, 2020 (154)
109	KOGIC	ss3944001153	Apr 25, 2020 (154)
110	EVA	ss3984783238	Apr 25, 2021 (155)
111	EVA	ss4016897487	Apr 25, 2021 (155)
112	TOPMED	ss4441646013	Apr 25, 2021 (155)
113	TOMMO_GENOMICS	ss5142859901	Apr 25, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5241456670	Oct 12, 2022 (156)
115	GENOGRAPHIC	ss5314462260	Oct 12, 2022 (156)
116	EVA	ss5314599412	Oct 12, 2022 (156)
117	EVA	ss5317242876	Oct 12, 2022 (156)
118	HUGCELL_USP	ss5442612600	Oct 12, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5513340597	Oct 12, 2022 (156)
120	SANFORD_IMAGENETICS	ss5625083216	Oct 12, 2022 (156)
121	TOMMO_GENOMICS	ss5667275561	Oct 12, 2022 (156)
122	EVA	ss5799477635	Oct 12, 2022 (156)
123	YY_MCH	ss5800399078	Oct 12, 2022 (156)
124	EVA	ss5831648343	Oct 12, 2022 (156)
125	EVA	ss5848816820	Oct 12, 2022 (156)
126	EVA	ss5907337966	Oct 12, 2022 (156)
127	EVA	ss5936899763	Oct 12, 2022 (156)
128	EVA	ss5979941647	Oct 12, 2022 (156)
129	1000Genomes	NC_000001.10 - 21678600	Oct 11, 2018 (152)
130	1000Genomes_30x	NC_000001.11 - 21352107	Oct 12, 2022 (156)
131	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 21678600	Oct 11, 2018 (152)
132	Genetic variation in the Estonian population	NC_000001.10 - 21678600	Oct 11, 2018 (152)
133	Genographic Project	NC_000001.11 - 21352107	Oct 12, 2022 (156)
134	The Danish reference pan genome	NC_000001.10 - 21678600	Apr 25, 2020 (154)
135	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4625090 (NC_000001.11:21352106:T:A 0/140002) Row 4625091 (NC_000001.11:21352106:T:G 46647/139942)	-	Apr 25, 2021 (155)
136	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4625090 (NC_000001.11:21352106:T:A 0/140002) Row 4625091 (NC_000001.11:21352106:T:G 46647/139942)	-	Apr 25, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000001.10 - 21678600	Apr 25, 2020 (154)
138	HGDP-CEPH-db Supplement 1	NC_000001.9 - 21551187	Apr 25, 2020 (154)
139	HapMap	NC_000001.11 - 21352107	Apr 25, 2020 (154)
140	KOREAN population from KRGDB	NC_000001.10 - 21678600	Apr 25, 2020 (154)
141	Korean Genome Project	NC_000001.11 - 21352107	Apr 25, 2020 (154)
142	Northern Sweden	NC_000001.10 - 21678600	Jul 12, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 21678600	Apr 25, 2021 (155)
144	Qatari	NC_000001.10 - 21678600	Apr 25, 2020 (154)
145	SGDP_PRJ	NC_000001.10 - 21678600	Apr 25, 2020 (154)
146	Siberian	NC_000001.10 - 21678600	Apr 25, 2020 (154)
147	8.3KJPN	NC_000001.10 - 21678600	Apr 25, 2021 (155)
148	14KJPN	NC_000001.11 - 21352107	Oct 12, 2022 (156)
149	TopMed	NC_000001.11 - 21352107	Apr 25, 2021 (155)
150	UK 10K study - Twins	NC_000001.10 - 21678600	Oct 11, 2018 (152)
151	A Vietnamese Genetic Variation Database	NC_000001.10 - 21678600	Jul 12, 2019 (153)
152	ALFA	NC_000001.11 - 21352107	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)
rs502730	Sep 19, 2000 (85)
rs1090368	Nov 09, 2000 (89)
rs1308904	Nov 09, 2000 (89)
rs1610252	Jan 18, 2001 (92)
rs1737461	Jan 18, 2001 (92)
rs59315274	May 25, 2008 (130)
rs386558180	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5019023330	NC_000001.11:21352106:T:A	NC_000001.11:21352106:T:A	(self)
ss81618239, ss3638891995, ss3639443043	NC_000001.8:21423905:T:G	NC_000001.11:21352106:T:G	(self)
4776, ss87286640, ss110161953, ss118552054, ss163163766, ss166213460, ss198142683, ss205184618, ss210448193, ss275747114, ss290782966, ss480433462, ss825446173, ss1584289844, ss1712316874, ss3642755489, ss3847326884	NC_000001.9:21551186:T:G	NC_000001.11:21352106:T:G	(self)
664641, 351533, 250452, 1419965, 152268, 463956, 141474, 9165, 184782, 392057, 103643, 829208, 351533, 74981, ss218275681, ss230456596, ss238165679, ss480447057, ss481235028, ss485014147, ss537042612, ss553875074, ss647630003, ss778855590, ss782953385, ss783915595, ss832209377, ss832872812, ss834316300, ss974931330, ss1067724369, ss1289978563, ss1425740561, ss1573931820, ss1599697871, ss1642691904, ss1751898488, ss1794037242, ss1918142852, ss1966701790, ss1971465194, ss2019583224, ss2147587289, ss2632487881, ss2697491997, ss2752501818, ss2984848768, ss2986441514, ss3343360094, ss3626044756, ss3630525639, ss3632883759, ss3633577789, ss3634311653, ss3635271836, ss3635987840, ss3637022216, ss3637742096, ss3640019017, ss3654512204, ss3726856609, ss3744612613, ss3745923071, ss3772114178, ss3826063112, ss3848375077, ss3893286562, ss3984783238, ss4016897487, ss5142859901, ss5314599412, ss5317242876, ss5625083216, ss5799477635, ss5831648343, ss5936899763, ss5979941647	NC_000001.10:21678599:T:G	NC_000001.11:21352106:T:G	(self)
866532, 82758, 27550, 379154, 1112665, 5252348, 5019023330, ss2160610767, ss3023556805, ss3646618767, ss3686316201, ss3798942477, ss3944001153, ss4441646013, ss5241456670, ss5314462260, ss5442612600, ss5513340597, ss5667275561, ss5800399078, ss5848816820, ss5907337966	NC_000001.11:21352106:T:G	NC_000001.11:21352106:T:G	(self)
ss20443345	NT_004610.16:2481849:T:G	NC_000001.11:21352106:T:G	(self)
ss278234, ss672721, ss1027629, ss1737152, ss2412660, ss2579257, ss4257607, ss44074028, ss65722683, ss66643481, ss67226802, ss67621811, ss68760930, ss70705107, ss71271713, ss75525101, ss79115655, ss83388168, ss97924089, ss102726067, ss120244565, ss121923420, ss137836840, ss139067944, ss153860482, ss159360922, ss160505105, ss171033650, ss173131180, ss244255251	NT_004610.19:8358687:T:G	NC_000001.11:21352106:T:G	(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 rs213006

PMID	Title	Author	Year	Journal
21242547	Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.	Arnett J et al.	2011	Archives of otolaryngology--head & neck surgery

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

rs213006