Name: rs2651206
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.

rs2651206

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:43245739 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.479882 (127020/264690, TOPMED)
T=0.354673 (72735/205076, GENOGRAPHIC)
T=0.353526 (70660/199872, ALFA) (+ 21 more)
T=0.473780 (66298/139934, GnomAD)
T=0.41295 (11669/28258, 14KJPN)
T=0.41014 (6874/16760, 8.3KJPN)
T=0.4886 (3129/6404, 1000G_30x)
T=0.4882 (2445/5008, 1000G)
T=0.3556 (1593/4480, Estonian)
T=0.3539 (1364/3854, ALSPAC)
T=0.3320 (1231/3708, TWINSUK)
T=0.4290 (1257/2930, KOREAN)
T=0.4183 (871/2082, HGDP_Stanford)
C=0.4635 (877/1892, HapMap)
T=0.381 (380/998, GoNL)
T=0.409 (322/788, PRJEB37584)
T=0.305 (191/626, Chileans)
T=0.327 (196/600, NorthernSweden)
C=0.348 (119/342, SGDP_PRJ)
T=0.444 (96/216, Qatari)
T=0.421 (90/214, Vietnamese)
T=0.29 (20/70, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)
C=0.29 (11/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TTBK1 : Intron Variant
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	199872	C=0.646474	A=0.000000, T=0.353526
European	Sub	172066	C=0.658003	A=0.000000, T=0.341997
African	Sub	5624	C=0.2754	A=0.0000, T=0.7246
African Others	Sub	194	C=0.149	A=0.000, T=0.851
African American	Sub	5430	C=0.2799	A=0.0000, T=0.7201
Asian	Sub	672	C=0.647	A=0.000, T=0.353
East Asian	Sub	510	C=0.641	A=0.000, T=0.359
Other Asian	Sub	162	C=0.667	A=0.000, T=0.333
Latin American 1	Sub	898	C=0.566	A=0.000, T=0.434
Latin American 2	Sub	8720	C=0.6966	A=0.0000, T=0.3034
South Asian	Sub	4994	C=0.6177	A=0.0000, T=0.3823
Other	Sub	6898	C=0.6293	A=0.0000, T=0.3707

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=0.520118	T=0.479882
Genographic Project	Global	Study-wide	205076	C=0.645327	T=0.354673
Allele Frequency Aggregator	Total	Global	199872	C=0.646474	A=0.000000, T=0.353526
Allele Frequency Aggregator	European	Sub	172066	C=0.658003	A=0.000000, T=0.341997
Allele Frequency Aggregator	Latin American 2	Sub	8720	C=0.6966	A=0.0000, T=0.3034
Allele Frequency Aggregator	Other	Sub	6898	C=0.6293	A=0.0000, T=0.3707
Allele Frequency Aggregator	African	Sub	5624	C=0.2754	A=0.0000, T=0.7246
Allele Frequency Aggregator	South Asian	Sub	4994	C=0.6177	A=0.0000, T=0.3823
Allele Frequency Aggregator	Latin American 1	Sub	898	C=0.566	A=0.000, T=0.434
Allele Frequency Aggregator	Asian	Sub	672	C=0.647	A=0.000, T=0.353
gnomAD - Genomes	Global	Study-wide	139934	C=0.526220	T=0.473780
gnomAD - Genomes	European	Sub	75794	C=0.65109	T=0.34891
gnomAD - Genomes	African	Sub	41922	C=0.25161	T=0.74839
gnomAD - Genomes	American	Sub	13630	C=0.63272	T=0.36728
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6556	T=0.3444
gnomAD - Genomes	East Asian	Sub	3120	C=0.5679	T=0.4321
gnomAD - Genomes	Other	Sub	2146	C=0.5429	T=0.4571
14KJPN	JAPANESE	Study-wide	28258	C=0.58705	T=0.41295
8.3KJPN	JAPANESE	Study-wide	16760	C=0.58986	T=0.41014
1000Genomes_30x	Global	Study-wide	6404	C=0.5114	T=0.4886
1000Genomes_30x	African	Sub	1786	C=0.2072	T=0.7928
1000Genomes_30x	Europe	Sub	1266	C=0.6769	T=0.3231
1000Genomes_30x	South Asian	Sub	1202	C=0.5982	T=0.4018
1000Genomes_30x	East Asian	Sub	1170	C=0.5675	T=0.4325
1000Genomes_30x	American	Sub	980	C=0.679	T=0.321
1000Genomes	Global	Study-wide	5008	C=0.5118	T=0.4882
1000Genomes	African	Sub	1322	C=0.2005	T=0.7995
1000Genomes	East Asian	Sub	1008	C=0.5645	T=0.4355
1000Genomes	Europe	Sub	1006	C=0.6720	T=0.3280
1000Genomes	South Asian	Sub	978	C=0.601	T=0.399
1000Genomes	American	Sub	694	C=0.670	T=0.330
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6444	T=0.3556
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6461	T=0.3539
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6680	T=0.3320
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5710	T=0.4290
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.5817	T=0.4183
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.615	T=0.385
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.597	T=0.403
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.609	T=0.391
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.653	T=0.347
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.103	T=0.897
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.759	T=0.241
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.90	T=0.10
HapMap	Global	Study-wide	1892	C=0.4635	T=0.5365
HapMap	American	Sub	770	C=0.584	T=0.416
HapMap	African	Sub	692	C=0.236	T=0.764
HapMap	Asian	Sub	254	C=0.583	T=0.417
HapMap	Europe	Sub	176	C=0.659	T=0.341
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.619	T=0.381
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.591	T=0.409
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.591	T=0.409
Chileans	Chilean	Study-wide	626	C=0.695	T=0.305
Northern Sweden	ACPOP	Study-wide	600	C=0.673	T=0.327
SGDP_PRJ	Global	Study-wide	342	C=0.348	T=0.652
Qatari	Global	Study-wide	216	C=0.556	T=0.444
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.579	T=0.421
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	C=0.71	T=0.29
The Danish reference pan genome	Danish	Study-wide	40	C=0.65	T=0.35
Siberian	Global	Study-wide	38	C=0.29	T=0.71

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.43245739C>A
GRCh38.p14 chr 6	NC_000006.12:g.43245739C>T
GRCh37.p13 chr 6	NC_000006.11:g.43213477C>A
GRCh37.p13 chr 6	NC_000006.11:g.43213477C>T
TTBK1 RefSeqGene	NG_051244.1:g.7060C>A
TTBK1 RefSeqGene	NG_051244.1:g.7060C>T

Gene: TTBK1, tau tubulin kinase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TTBK1 transcript	NM_032538.3:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X3	XM_011514947.3:c.-54-868C… XM_011514947.3:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X1	XM_017011364.2:c.-54-868C… XM_017011364.2:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X2	XM_017011365.2:c.-54-868C… XM_017011365.2:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X4	XM_017011366.2:c.-54-868C… XM_017011366.2:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X5	XM_017011367.2:c.-54-868C… XM_017011367.2:c.-54-868C>A	N/A	Intron Variant
TTBK1 transcript variant X6	XM_011514948.3:c.	N/A	Genic Upstream Transcript Variant
TTBK1 transcript variant X7	XM_017011368.2:c.	N/A	Genic Upstream Transcript Variant

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=	A	T
GRCh38.p14 chr 6	NC_000006.12:g.43245739=	NC_000006.12:g.43245739C>A	NC_000006.12:g.43245739C>T
GRCh37.p13 chr 6	NC_000006.11:g.43213477=	NC_000006.11:g.43213477C>A	NC_000006.11:g.43213477C>T
TTBK1 RefSeqGene	NG_051244.1:g.7060=	NG_051244.1:g.7060C>A	NG_051244.1:g.7060C>T
TTBK1 transcript	NM_032538.1:c.-54-868=	NM_032538.1:c.-54-868C>A	NM_032538.1:c.-54-868C>T
TTBK1 transcript	NM_032538.3:c.-54-868=	NM_032538.3:c.-54-868C>A	NM_032538.3:c.-54-868C>T
TTBK1 transcript variant X3	XM_011514947.3:c.-54-868=	XM_011514947.3:c.-54-868C>A	XM_011514947.3:c.-54-868C>T
TTBK1 transcript variant X1	XM_017011364.2:c.-54-868=	XM_017011364.2:c.-54-868C>A	XM_017011364.2:c.-54-868C>T
TTBK1 transcript variant X2	XM_017011365.2:c.-54-868=	XM_017011365.2:c.-54-868C>A	XM_017011365.2:c.-54-868C>T
TTBK1 transcript variant X4	XM_017011366.2:c.-54-868=	XM_017011366.2:c.-54-868C>A	XM_017011366.2:c.-54-868C>T
TTBK1 transcript variant X5	XM_017011367.2:c.-54-868=	XM_017011367.2:c.-54-868C>A	XM_017011367.2:c.-54-868C>T

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#.

125 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3737722	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss10339527	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss11833272	Jul 11, 2003 (116)
4	KRIBB_YJKIM	ss65844808	Dec 03, 2006 (127)
5	AFFY	ss66079936	Dec 03, 2006 (127)
6	ILLUMINA	ss66646302	Dec 03, 2006 (127)
7	ILLUMINA	ss67265628	Dec 03, 2006 (127)
8	ILLUMINA	ss67665482	Dec 03, 2006 (127)
9	ILLUMINA	ss70744027	May 24, 2008 (130)
10	ILLUMINA	ss71315442	May 16, 2007 (127)
11	ILLUMINA	ss75532270	Dec 06, 2007 (129)
12	AFFY	ss76019857	Dec 06, 2007 (129)
13	ILLUMINA	ss79142188	Dec 15, 2007 (130)
14	KRIBB_YJKIM	ss84065197	Dec 15, 2007 (130)
15	HGSV	ss84556141	Dec 15, 2007 (130)
16	HGSV	ss84640656	Dec 15, 2007 (130)
17	BCMHGSC_JDW	ss93450446	Mar 24, 2008 (129)
18	BGI	ss104307422	Dec 01, 2009 (131)
19	1000GENOMES	ss110028599	Jan 24, 2009 (130)
20	1000GENOMES	ss114283789	Jan 25, 2009 (130)
21	ILLUMINA-UK	ss116441620	Feb 14, 2009 (130)
22	ILLUMINA	ss122077281	Dec 01, 2009 (131)
23	ENSEMBL	ss143870708	Dec 01, 2009 (131)
24	ILLUMINA	ss154225890	Dec 01, 2009 (131)
25	ILLUMINA	ss159402402	Dec 01, 2009 (131)
26	ILLUMINA	ss160566768	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss162295200	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss163452096	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss166582091	Jul 04, 2010 (132)
30	AFFY	ss170498940	Jul 04, 2010 (132)
31	ILLUMINA	ss171331451	Jul 04, 2010 (132)
32	ILLUMINA	ss173419031	Jul 04, 2010 (132)
33	BUSHMAN	ss201751078	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss207388213	Jul 04, 2010 (132)
35	1000GENOMES	ss222362162	Jul 14, 2010 (132)
36	1000GENOMES	ss233449655	Jul 14, 2010 (132)
37	1000GENOMES	ss240511566	Jul 15, 2010 (132)
38	GMI	ss278774044	May 04, 2012 (137)
39	GMI	ss285394614	Apr 25, 2013 (138)
40	PJP	ss293847515	May 09, 2011 (134)
41	ILLUMINA	ss480626526	May 04, 2012 (137)
42	ILLUMINA	ss480641469	May 04, 2012 (137)
43	ILLUMINA	ss481481261	Sep 08, 2015 (146)
44	ILLUMINA	ss485108419	May 04, 2012 (137)
45	ILLUMINA	ss537112687	Sep 08, 2015 (146)
46	TISHKOFF	ss559171898	Apr 25, 2013 (138)
47	SSMP	ss653110659	Apr 25, 2013 (138)
48	ILLUMINA	ss778502318	Sep 08, 2015 (146)
49	ILLUMINA	ss783000485	Sep 08, 2015 (146)
50	ILLUMINA	ss783960991	Sep 08, 2015 (146)
51	ILLUMINA	ss825472706	Apr 01, 2015 (144)
52	ILLUMINA	ss832257591	Sep 08, 2015 (146)
53	ILLUMINA	ss832914113	Jul 13, 2019 (153)
54	ILLUMINA	ss833958456	Sep 08, 2015 (146)
55	EVA-GONL	ss982872485	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1073572368	Aug 21, 2014 (142)
57	1000GENOMES	ss1319903732	Aug 21, 2014 (142)
58	DDI	ss1430704634	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1581650024	Apr 01, 2015 (144)
60	EVA_DECODE	ss1592408619	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1615461426	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1658455459	Apr 01, 2015 (144)
63	EVA_SVP	ss1712859508	Apr 01, 2015 (144)
64	ILLUMINA	ss1752637804	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1804404459	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1926129016	Feb 12, 2016 (147)
67	GENOMED	ss1970383978	Jul 19, 2016 (147)
68	JJLAB	ss2023703998	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2151882564	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2283615668	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2626339707	Nov 08, 2017 (151)
72	ILLUMINA	ss2634446627	Nov 08, 2017 (151)
73	GRF	ss2707481171	Nov 08, 2017 (151)
74	GNOMAD	ss2838360781	Nov 08, 2017 (151)
75	SWEGEN	ss2998974389	Nov 08, 2017 (151)
76	BIOINF_KMB_FNS_UNIBA	ss3025643455	Nov 08, 2017 (151)
77	CSHL	ss3346937003	Nov 08, 2017 (151)
78	ILLUMINA	ss3629536627	Oct 12, 2018 (152)
79	ILLUMINA	ss3632363640	Oct 12, 2018 (152)
80	ILLUMINA	ss3633420412	Oct 12, 2018 (152)
81	ILLUMINA	ss3634143270	Oct 12, 2018 (152)
82	ILLUMINA	ss3635065719	Oct 12, 2018 (152)
83	ILLUMINA	ss3635824126	Oct 12, 2018 (152)
84	ILLUMINA	ss3636788531	Oct 12, 2018 (152)
85	ILLUMINA	ss3637576939	Oct 12, 2018 (152)
86	ILLUMINA	ss3638627806	Oct 12, 2018 (152)
87	ILLUMINA	ss3639314447	Oct 12, 2018 (152)
88	ILLUMINA	ss3639682968	Oct 12, 2018 (152)
89	ILLUMINA	ss3640773018	Oct 12, 2018 (152)
90	ILLUMINA	ss3641194616	Oct 12, 2018 (152)
91	ILLUMINA	ss3641491774	Oct 12, 2018 (152)
92	ILLUMINA	ss3643569084	Oct 12, 2018 (152)
93	EGCUT_WGS	ss3666865573	Jul 13, 2019 (153)
94	EVA_DECODE	ss3717101802	Jul 13, 2019 (153)
95	ACPOP	ss3733455749	Jul 13, 2019 (153)
96	ILLUMINA	ss3745365659	Jul 13, 2019 (153)
97	EVA	ss3764953864	Jul 13, 2019 (153)
98	ILLUMINA	ss3772859230	Jul 13, 2019 (153)
99	KHV_HUMAN_GENOMES	ss3808100501	Jul 13, 2019 (153)
100	EVA	ss3829895546	Apr 26, 2020 (154)
101	EVA	ss3838424273	Apr 26, 2020 (154)
102	EVA	ss3843868676	Apr 26, 2020 (154)
103	HGDP	ss3847832570	Apr 26, 2020 (154)
104	SGDP_PRJ	ss3864464691	Apr 26, 2020 (154)
105	KRGDB	ss3911268663	Apr 26, 2020 (154)
106	EVA	ss3984568521	Apr 26, 2021 (155)
107	EVA	ss3985220679	Apr 26, 2021 (155)
108	EVA	ss4017272937	Apr 26, 2021 (155)
109	TOPMED	ss4701031922	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5177252548	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5268248032	Oct 17, 2022 (156)
112	GENOGRAPHIC	ss5314513286	Oct 17, 2022 (156)
113	EVA	ss5315153281	Oct 17, 2022 (156)
114	EVA	ss5365262959	Oct 17, 2022 (156)
115	HUGCELL_USP	ss5465940612	Oct 17, 2022 (156)
116	EVA	ss5508470446	Oct 17, 2022 (156)
117	1000G_HIGH_COVERAGE	ss5554042965	Oct 17, 2022 (156)
118	SANFORD_IMAGENETICS	ss5640288669	Oct 17, 2022 (156)
119	TOMMO_GENOMICS	ss5715226040	Oct 17, 2022 (156)
120	EVA	ss5799687818	Oct 17, 2022 (156)
121	YY_MCH	ss5807419921	Oct 17, 2022 (156)
122	EVA	ss5842165641	Oct 17, 2022 (156)
123	EVA	ss5855334958	Oct 17, 2022 (156)
124	EVA	ss5883589183	Oct 17, 2022 (156)
125	EVA	ss5968784713	Oct 17, 2022 (156)
126	1000Genomes	NC_000006.11 - 43213477	Oct 12, 2018 (152)
127	1000Genomes_30x	NC_000006.12 - 43245739	Oct 17, 2022 (156)
128	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 43213477	Oct 12, 2018 (152)
129	Chileans	NC_000006.11 - 43213477	Apr 26, 2020 (154)
130	Genetic variation in the Estonian population	NC_000006.11 - 43213477	Oct 12, 2018 (152)
131	Genographic Project	NC_000006.12 - 43245739	Oct 17, 2022 (156)
132	The Danish reference pan genome	NC_000006.11 - 43213477	Apr 26, 2020 (154)
133	gnomAD - Genomes	NC_000006.12 - 43245739	Apr 26, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000006.11 - 43213477	Apr 26, 2020 (154)
135	HGDP-CEPH-db Supplement 1	NC_000006.10 - 43321455	Apr 26, 2020 (154)
136	HapMap	NC_000006.12 - 43245739	Apr 26, 2020 (154)
137	KOREAN population from KRGDB	NC_000006.11 - 43213477	Apr 26, 2020 (154)
138	Northern Sweden	NC_000006.11 - 43213477	Jul 13, 2019 (153)
139	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 43213477	Apr 26, 2021 (155)
140	CNV burdens in cranial meningiomas	NC_000006.11 - 43213477	Apr 26, 2021 (155)
141	Qatari	NC_000006.11 - 43213477	Apr 26, 2020 (154)
142	SGDP_PRJ	NC_000006.11 - 43213477	Apr 26, 2020 (154)
143	Siberian	NC_000006.11 - 43213477	Apr 26, 2020 (154)
144	8.3KJPN	NC_000006.11 - 43213477	Apr 26, 2021 (155)
145	14KJPN	NC_000006.12 - 43245739	Oct 17, 2022 (156)
146	TopMed	NC_000006.12 - 43245739	Apr 26, 2021 (155)
147	UK 10K study - Twins	NC_000006.11 - 43213477	Oct 12, 2018 (152)
148	A Vietnamese Genetic Variation Database	NC_000006.11 - 43213477	Jul 13, 2019 (153)
149	ALFA	NC_000006.12 - 43245739	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)
rs58199275	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6464755816	NC_000006.12:43245738:C:A	NC_000006.12:43245738:C:A	(self)
ss84556141, ss84640656, ss3639314447, ss3639682968	NC_000006.9:43321454:C:T	NC_000006.12:43245738:C:T	(self)
510462, ss93450446, ss110028599, ss114283789, ss116441620, ss162295200, ss163452096, ss166582091, ss201751078, ss207388213, ss278774044, ss285394614, ss293847515, ss480626526, ss825472706, ss1592408619, ss1712859508, ss3643569084, ss3847832570	NC_000006.10:43321454:C:T	NC_000006.12:43245738:C:T	(self)
31684375, 17670699, 376797, 12603821, 7814963, 7863538, 18446057, 6740614, 446606, 117929, 8170946, 16481671, 4398918, 35221855, 17670699, 3922538, ss222362162, ss233449655, ss240511566, ss480641469, ss481481261, ss485108419, ss537112687, ss559171898, ss653110659, ss778502318, ss783000485, ss783960991, ss832257591, ss832914113, ss833958456, ss982872485, ss1073572368, ss1319903732, ss1430704634, ss1581650024, ss1615461426, ss1658455459, ss1752637804, ss1804404459, ss1926129016, ss1970383978, ss2023703998, ss2151882564, ss2626339707, ss2634446627, ss2707481171, ss2838360781, ss2998974389, ss3346937003, ss3629536627, ss3632363640, ss3633420412, ss3634143270, ss3635065719, ss3635824126, ss3636788531, ss3637576939, ss3638627806, ss3640773018, ss3641194616, ss3641491774, ss3666865573, ss3733455749, ss3745365659, ss3764953864, ss3772859230, ss3829895546, ss3838424273, ss3864464691, ss3911268663, ss3984568521, ss3985220679, ss4017272937, ss5177252548, ss5315153281, ss5365262959, ss5508470446, ss5640288669, ss5799687818, ss5842165641, ss5968784713	NC_000006.11:43213476:C:T	NC_000006.12:43245738:C:T	(self)
41568900, 120137, 223558157, 3120137, 49063144, 538409480, 6464755816, ss2283615668, ss3025643455, ss3717101802, ss3808100501, ss3843868676, ss4701031922, ss5268248032, ss5314513286, ss5465940612, ss5554042965, ss5715226040, ss5807419921, ss5855334958, ss5883589183	NC_000006.12:43245738:C:T	NC_000006.12:43245738:C:T	(self)
ss10339527, ss11833272	NT_007592.13:34010603:C:T	NC_000006.12:43245738:C:T	(self)
ss3737722, ss65844808, ss66079936, ss66646302, ss67265628, ss67665482, ss70744027, ss71315442, ss75532270, ss76019857, ss79142188, ss84065197, ss104307422, ss122077281, ss143870708, ss154225890, ss159402402, ss160566768, ss170498940, ss171331451, ss173419031	NT_007592.15:43153476:C:T	NC_000006.12:43245738: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 rs2651206

PMID	Title	Author	Year	Journal
20096481	Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.	Vázquez-Higuera JL et al.	2011	Neurobiology of aging
21219968	Tau-tubulin kinase-1 gene variants are associated with Alzheimer's disease in Han Chinese.	Yu NN et al.	2011	Neuroscience letters
24808823	Tau-tubulin kinase.	Ikezu S et al.	2014	Frontiers in molecular neuroscience

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
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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

rs2651206