Name: rs2302282
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.

rs2302282

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:2940465 (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=0.222625 (68573/308020, ALFA)
T=0.231875 (61375/264690, TOPMED)
T=0.222219 (31092/139916, GnomAD) (+ 22 more)
T=0.25368 (19965/78700, PAGE_STUDY)
T=0.33084 (9349/28258, 14KJPN)
T=0.33001 (5531/16760, 8.3KJPN)
T=0.2386 (1528/6404, 1000G_30x)
T=0.2370 (1187/5008, 1000G)
T=0.1848 (828/4480, Estonian)
T=0.1941 (748/3854, ALSPAC)
T=0.2015 (747/3708, TWINSUK)
T=0.3655 (1071/2930, KOREAN)
T=0.2673 (557/2084, HGDP_Stanford)
T=0.2611 (494/1892, HapMap)
T=0.2434 (276/1134, Daghestan)
T=0.201 (201/998, GoNL)
T=0.355 (281/792, PRJEB37584)
T=0.165 (99/600, NorthernSweden)
T=0.277 (148/534, MGP)
C=0.415 (103/248, SGDP_PRJ)
T=0.264 (57/216, Qatari)
T=0.36 (32/88, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.50 (10/20, Siberian)
T=0.50 (10/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TULP3 : Intron Variant
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	313056	C=0.777564	T=0.222436
European	Sub	273436	C=0.780669	T=0.219331
African	Sub	12152	C=0.79040	T=0.20960
African Others	Sub	456	C=0.807	T=0.193
African American	Sub	11696	C=0.78976	T=0.21024
Asian	Sub	3942	C=0.6220	T=0.3780
East Asian	Sub	3196	C=0.6446	T=0.3554
Other Asian	Sub	746	C=0.525	T=0.475
Latin American 1	Sub	1134	C=0.7672	T=0.2328
Latin American 2	Sub	7228	C=0.7322	T=0.2678
South Asian	Sub	5226	C=0.8146	T=0.1854
Other	Sub	9938	C=0.7529	T=0.2471

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
Allele Frequency Aggregator	Total	Global	308020	C=0.777375	T=0.222625
Allele Frequency Aggregator	European	Sub	270342	C=0.780545	T=0.219455
Allele Frequency Aggregator	African	Sub	11010	C=0.78965	T=0.21035
Allele Frequency Aggregator	Other	Sub	9138	C=0.7516	T=0.2484
Allele Frequency Aggregator	Latin American 2	Sub	7228	C=0.7322	T=0.2678
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.8146	T=0.1854
Allele Frequency Aggregator	Asian	Sub	3942	C=0.6220	T=0.3780
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.7672	T=0.2328
TopMed	Global	Study-wide	264690	C=0.768125	T=0.231875
gnomAD - Genomes	Global	Study-wide	139916	C=0.777781	T=0.222219
gnomAD - Genomes	European	Sub	75812	C=0.79121	T=0.20879
gnomAD - Genomes	African	Sub	41922	C=0.78245	T=0.21755
gnomAD - Genomes	American	Sub	13614	C=0.74115	T=0.25885
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.7209	T=0.2791
gnomAD - Genomes	East Asian	Sub	3112	C=0.6314	T=0.3686
gnomAD - Genomes	Other	Sub	2138	C=0.7446	T=0.2554
The PAGE Study	Global	Study-wide	78700	C=0.74632	T=0.25368
The PAGE Study	AfricanAmerican	Sub	32516	C=0.78512	T=0.21488
The PAGE Study	Mexican	Sub	10808	C=0.73668	T=0.26332
The PAGE Study	Asian	Sub	8318	C=0.6637	T=0.3363
The PAGE Study	PuertoRican	Sub	7918	C=0.7422	T=0.2578
The PAGE Study	NativeHawaiian	Sub	4534	C=0.6189	T=0.3811
The PAGE Study	Cuban	Sub	4230	C=0.7331	T=0.2669
The PAGE Study	Dominican	Sub	3828	C=0.7806	T=0.2194
The PAGE Study	CentralAmerican	Sub	2450	C=0.7257	T=0.2743
The PAGE Study	SouthAmerican	Sub	1982	C=0.7351	T=0.2649
The PAGE Study	NativeAmerican	Sub	1260	C=0.7937	T=0.2063
The PAGE Study	SouthAsian	Sub	856	C=0.836	T=0.164
14KJPN	JAPANESE	Study-wide	28258	C=0.66916	T=0.33084
8.3KJPN	JAPANESE	Study-wide	16760	C=0.66999	T=0.33001
1000Genomes_30x	Global	Study-wide	6404	C=0.7614	T=0.2386
1000Genomes_30x	African	Sub	1786	C=0.7732	T=0.2268
1000Genomes_30x	Europe	Sub	1266	C=0.7875	T=0.2125
1000Genomes_30x	South Asian	Sub	1202	C=0.8444	T=0.1556
1000Genomes_30x	East Asian	Sub	1170	C=0.6538	T=0.3462
1000Genomes_30x	American	Sub	980	C=0.733	T=0.267
1000Genomes	Global	Study-wide	5008	C=0.7630	T=0.2370
1000Genomes	African	Sub	1322	C=0.7829	T=0.2171
1000Genomes	East Asian	Sub	1008	C=0.6548	T=0.3452
1000Genomes	Europe	Sub	1006	C=0.7873	T=0.2127
1000Genomes	South Asian	Sub	978	C=0.848	T=0.152
1000Genomes	American	Sub	694	C=0.728	T=0.272
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8152	T=0.1848
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8059	T=0.1941
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7985	T=0.2015
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6345	T=0.3655
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7327	T=0.2673
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.664	T=0.336
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.819	T=0.181
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.697	T=0.303
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.766	T=0.234
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.806	T=0.194
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.741	T=0.259
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.44	T=0.56
HapMap	Global	Study-wide	1892	C=0.7389	T=0.2611
HapMap	American	Sub	770	C=0.788	T=0.212
HapMap	African	Sub	692	C=0.704	T=0.296
HapMap	Asian	Sub	254	C=0.689	T=0.311
HapMap	Europe	Sub	176	C=0.733	T=0.267
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.7566	T=0.2434
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.725	T=0.275
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.715	T=0.285
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=0.775	T=0.225
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.870	T=0.130
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.90	T=0.10
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.69	T=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.799	T=0.201
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.645	T=0.355
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.645	T=0.355
Northern Sweden	ACPOP	Study-wide	600	C=0.835	T=0.165
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.723	T=0.277
SGDP_PRJ	Global	Study-wide	248	C=0.415	T=0.585
Qatari	Global	Study-wide	216	C=0.736	T=0.264
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	C=0.64	T=0.36
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	20	C=0.50	T=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 12	NC_000012.12:g.2940465C>T
GRCh37.p13 chr 12	NC_000012.11:g.3049631C>T

Gene: TULP3, TUB like protein 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TULP3 transcript variant 2	NM_001160408.2:c.1310-65C… NM_001160408.2:c.1310-65C>T	N/A	Intron Variant
TULP3 transcript variant 1	NM_003324.5:c.*1021=	N/A	3 Prime UTR 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=	T
GRCh38.p14 chr 12	NC_000012.12:g.2940465=	NC_000012.12:g.2940465C>T
GRCh37.p13 chr 12	NC_000012.11:g.3049631=	NC_000012.11:g.3049631C>T
TULP3 transcript variant 1	NM_003324.5:c.*1021=	NM_003324.5:c.*1021C>T
TULP3 transcript variant 1	NM_003324.4:c.*1021=	NM_003324.4:c.*1021C>T
TULP3 transcript variant 2	NM_001160408.1:c.1310-65=	NM_001160408.1:c.1310-65C>T
TULP3 transcript variant 2	NM_001160408.2:c.1310-65=	NM_001160408.2:c.1310-65C>T
TULP3 transcript variant X1	XM_005253763.1:c.674-65=	XM_005253763.1:c.674-65C>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#.

145 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3248518	Sep 28, 2001 (100)
2	SC_SNP	ss16295059	Feb 27, 2004 (120)
3	ILLUMINA	ss66710305	Nov 29, 2006 (127)
4	ILLUMINA	ss67244812	Nov 29, 2006 (127)
5	ILLUMINA	ss67641802	Nov 29, 2006 (127)
6	ILLUMINA	ss70723146	May 25, 2008 (130)
7	ILLUMINA	ss71291716	May 16, 2007 (127)
8	ILLUMINA	ss75674498	Dec 06, 2007 (129)
9	ILLUMINA	ss79128498	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss84029385	Dec 15, 2007 (130)
11	BCMHGSC_JDW	ss88918122	Mar 24, 2008 (129)
12	1000GENOMES	ss111380482	Jan 25, 2009 (130)
13	1000GENOMES	ss113076653	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss118519877	Feb 14, 2009 (130)
15	ILLUMINA	ss121996857	Dec 01, 2009 (131)
16	ILLUMINA	ss153902149	Dec 01, 2009 (131)
17	GMI	ss157023557	Dec 01, 2009 (131)
18	ILLUMINA	ss159379956	Dec 01, 2009 (131)
19	ILLUMINA	ss160533610	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168877421	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss170262035	Jul 04, 2010 (132)
22	ILLUMINA	ss171182351	Jul 04, 2010 (132)
23	ILLUMINA	ss173275303	Jul 04, 2010 (132)
24	BUSHMAN	ss203465489	Jul 04, 2010 (132)
25	1000GENOMES	ss225572654	Jul 14, 2010 (132)
26	1000GENOMES	ss235798650	Jul 15, 2010 (132)
27	1000GENOMES	ss242382091	Jul 15, 2010 (132)
28	GMI	ss281247285	May 04, 2012 (137)
29	ILLUMINA	ss480522669	May 04, 2012 (137)
30	ILLUMINA	ss480538113	May 04, 2012 (137)
31	ILLUMINA	ss481348847	Sep 08, 2015 (146)
32	ILLUMINA	ss485058621	May 04, 2012 (137)
33	ILLUMINA	ss533067564	Sep 08, 2015 (146)
34	ILLUMINA	ss537074717	Sep 08, 2015 (146)
35	TISHKOFF	ss562954511	Apr 25, 2013 (138)
36	SSMP	ss658480057	Apr 25, 2013 (138)
37	ILLUMINA	ss778864662	Sep 08, 2015 (146)
38	ILLUMINA	ss782975538	Sep 08, 2015 (146)
39	ILLUMINA	ss783936756	Sep 08, 2015 (146)
40	ILLUMINA	ss825459016	Apr 01, 2015 (144)
41	ILLUMINA	ss832231958	Sep 08, 2015 (146)
42	ILLUMINA	ss832891744	Jul 13, 2019 (153)
43	ILLUMINA	ss834325491	Sep 08, 2015 (146)
44	EVA-GONL	ss989173077	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1078201314	Aug 21, 2014 (142)
46	1000GENOMES	ss1343759965	Aug 21, 2014 (142)
47	HAMMER_LAB	ss1397623709	Sep 08, 2015 (146)
48	DDI	ss1426822321	Apr 01, 2015 (144)
49	EVA_GENOME_DK	ss1576075074	Apr 01, 2015 (144)
50	EVA_DECODE	ss1598844261	Apr 01, 2015 (144)
51	EVA_UK10K_ALSPAC	ss1627892806	Apr 01, 2015 (144)
52	EVA_UK10K_TWINSUK	ss1670886839	Apr 01, 2015 (144)
53	EVA_MGP	ss1711316742	Apr 01, 2015 (144)
54	EVA_SVP	ss1713301686	Apr 01, 2015 (144)
55	ILLUMINA	ss1752064018	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1807089700	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1932533457	Feb 12, 2016 (147)
58	ILLUMINA	ss1946329009	Feb 12, 2016 (147)
59	ILLUMINA	ss1959406423	Feb 12, 2016 (147)
60	GENOMED	ss1967507507	Jul 19, 2016 (147)
61	JJLAB	ss2027013797	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2155332546	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2187325718	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2627983403	Nov 08, 2017 (151)
65	ILLUMINA	ss2632916075	Nov 08, 2017 (151)
66	ILLUMINA	ss2635032794	Nov 08, 2017 (151)
67	GRF	ss2699651748	Nov 08, 2017 (151)
68	ILLUMINA	ss2710751776	Nov 08, 2017 (151)
69	GNOMAD	ss2906659248	Nov 08, 2017 (151)
70	SWEGEN	ss3009100446	Nov 08, 2017 (151)
71	ILLUMINA	ss3021398963	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3027309588	Nov 08, 2017 (151)
73	CSHL	ss3349890423	Nov 08, 2017 (151)
74	ILLUMINA	ss3625614176	Oct 12, 2018 (152)
75	ILLUMINA	ss3626800000	Oct 12, 2018 (152)
76	ILLUMINA	ss3626800001	Oct 12, 2018 (152)
77	ILLUMINA	ss3630928160	Oct 12, 2018 (152)
78	ILLUMINA	ss3633007605	Oct 12, 2018 (152)
79	ILLUMINA	ss3633707967	Oct 12, 2018 (152)
80	ILLUMINA	ss3634486903	Oct 12, 2018 (152)
81	ILLUMINA	ss3635399069	Oct 12, 2018 (152)
82	ILLUMINA	ss3636171154	Oct 12, 2018 (152)
83	ILLUMINA	ss3637150008	Oct 12, 2018 (152)
84	ILLUMINA	ss3637942899	Oct 12, 2018 (152)
85	ILLUMINA	ss3638985407	Oct 12, 2018 (152)
86	ILLUMINA	ss3639494302	Oct 12, 2018 (152)
87	ILLUMINA	ss3640194238	Oct 12, 2018 (152)
88	ILLUMINA	ss3641024238	Oct 12, 2018 (152)
89	ILLUMINA	ss3641318833	Oct 12, 2018 (152)
90	ILLUMINA	ss3642938316	Oct 12, 2018 (152)
91	ILLUMINA	ss3644581944	Oct 12, 2018 (152)
92	ILLUMINA	ss3651770700	Oct 12, 2018 (152)
93	EGCUT_WGS	ss3676431269	Jul 13, 2019 (153)
94	EVA_DECODE	ss3692990442	Jul 13, 2019 (153)
95	ILLUMINA	ss3725296967	Jul 13, 2019 (153)
96	ACPOP	ss3738714639	Jul 13, 2019 (153)
97	ILLUMINA	ss3744093957	Jul 13, 2019 (153)
98	ILLUMINA	ss3744787636	Jul 13, 2019 (153)
99	EVA	ss3750063953	Jul 13, 2019 (153)
100	PAGE_CC	ss3771669315	Jul 13, 2019 (153)
101	ILLUMINA	ss3772287247	Jul 13, 2019 (153)
102	PACBIO	ss3787122492	Jul 13, 2019 (153)
103	PACBIO	ss3792239144	Jul 13, 2019 (153)
104	PACBIO	ss3797121997	Jul 13, 2019 (153)
105	KHV_HUMAN_GENOMES	ss3815380921	Jul 13, 2019 (153)
106	EVA	ss3825814578	Apr 26, 2020 (154)
107	EVA	ss3832941005	Apr 26, 2020 (154)
108	EVA	ss3840033086	Apr 26, 2020 (154)
109	EVA	ss3845515478	Apr 26, 2020 (154)
110	HGDP	ss3847439012	Apr 26, 2020 (154)
111	SGDP_PRJ	ss3877555329	Apr 26, 2020 (154)
112	KRGDB	ss3926050714	Apr 26, 2020 (154)
113	FSA-LAB	ss3984018924	Apr 27, 2021 (155)
114	EVA	ss3984661096	Apr 27, 2021 (155)
115	EVA	ss3985571195	Apr 27, 2021 (155)
116	EVA	ss3986057736	Apr 27, 2021 (155)
117	EVA	ss3986554816	Apr 27, 2021 (155)
118	EVA	ss4017570369	Apr 27, 2021 (155)
119	TOPMED	ss4906675045	Apr 27, 2021 (155)
120	TOMMO_GENOMICS	ss5204781799	Apr 27, 2021 (155)
121	EVA	ss5237217903	Apr 27, 2021 (155)
122	1000G_HIGH_COVERAGE	ss5289590735	Oct 17, 2022 (156)
123	EVA	ss5315594656	Oct 17, 2022 (156)
124	EVA	ss5403533510	Oct 17, 2022 (156)
125	HUGCELL_USP	ss5484507120	Oct 17, 2022 (156)
126	EVA	ss5510580440	Oct 17, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5586413264	Oct 17, 2022 (156)
128	EVA	ss5624028084	Oct 17, 2022 (156)
129	SANFORD_IMAGENETICS	ss5624292632	Oct 17, 2022 (156)
130	SANFORD_IMAGENETICS	ss5652465812	Oct 17, 2022 (156)
131	TOMMO_GENOMICS	ss5753490506	Oct 17, 2022 (156)
132	EVA	ss5799861528	Oct 17, 2022 (156)
133	EVA	ss5800064401	Oct 17, 2022 (156)
134	EVA	ss5800173778	Oct 17, 2022 (156)
135	YY_MCH	ss5812949334	Oct 17, 2022 (156)
136	EVA	ss5837502130	Oct 17, 2022 (156)
137	EVA	ss5847402877	Oct 17, 2022 (156)
138	EVA	ss5847657200	Oct 17, 2022 (156)
139	EVA	ss5848343093	Oct 17, 2022 (156)
140	EVA	ss5850233997	Oct 17, 2022 (156)
141	EVA	ss5903047186	Oct 17, 2022 (156)
142	EVA	ss5936551423	Oct 17, 2022 (156)
143	EVA	ss5943814049	Oct 17, 2022 (156)
144	EVA	ss5979380015	Oct 17, 2022 (156)
145	EVA	ss5980715823	Oct 17, 2022 (156)
146	1000Genomes	NC_000012.11 - 3049631	Oct 12, 2018 (152)
147	1000Genomes_30x	NC_000012.12 - 2940465	Oct 17, 2022 (156)
148	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 3049631	Oct 12, 2018 (152)
149	Genome-wide autozygosity in Daghestan	NC_000012.10 - 2919892	Apr 26, 2020 (154)
150	Genetic variation in the Estonian population	NC_000012.11 - 3049631	Oct 12, 2018 (152)
151	The Danish reference pan genome	NC_000012.11 - 3049631	Apr 26, 2020 (154)
152	gnomAD - Genomes	NC_000012.12 - 2940465	Apr 27, 2021 (155)
153	Genome of the Netherlands Release 5	NC_000012.11 - 3049631	Apr 26, 2020 (154)
154	HGDP-CEPH-db Supplement 1	NC_000012.10 - 2919892	Apr 26, 2020 (154)
155	HapMap	NC_000012.12 - 2940465	Apr 26, 2020 (154)
156	KOREAN population from KRGDB	NC_000012.11 - 3049631	Apr 26, 2020 (154)
157	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 3049631	Apr 26, 2020 (154)
158	Northern Sweden	NC_000012.11 - 3049631	Jul 13, 2019 (153)
159	The PAGE Study	NC_000012.12 - 2940465	Jul 13, 2019 (153)
160	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 3049631	Apr 27, 2021 (155)
161	CNV burdens in cranial meningiomas	NC_000012.11 - 3049631	Apr 27, 2021 (155)
162	Qatari	NC_000012.11 - 3049631	Apr 26, 2020 (154)
163	SGDP_PRJ	NC_000012.11 - 3049631	Apr 26, 2020 (154)
164	Siberian	NC_000012.11 - 3049631	Apr 26, 2020 (154)
165	8.3KJPN	NC_000012.11 - 3049631	Apr 27, 2021 (155)
166	14KJPN	NC_000012.12 - 2940465	Oct 17, 2022 (156)
167	TopMed	NC_000012.12 - 2940465	Apr 27, 2021 (155)
168	UK 10K study - Twins	NC_000012.11 - 3049631	Oct 12, 2018 (152)
169	ALFA	NC_000012.12 - 2940465	Apr 27, 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)
rs59314809	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638985407, ss3639494302	NC_000012.9:2919891:C:T	NC_000012.12:2940464:C:T	(self)
94734, 116904, ss88918122, ss111380482, ss113076653, ss118519877, ss168877421, ss170262035, ss203465489, ss281247285, ss480522669, ss825459016, ss1397623709, ss1598844261, ss1713301686, ss2635032794, ss3642938316, ss3847439012	NC_000012.10:2919891:C:T	NC_000012.12:2940464:C:T	(self)
56369791, 31303722, 22169517, 2817127, 13964687, 33228108, 432502, 11999504, 797122, 210587, 14575387, 29572309, 7848900, 62751106, 31303722, ss225572654, ss235798650, ss242382091, ss480538113, ss481348847, ss485058621, ss533067564, ss537074717, ss562954511, ss658480057, ss778864662, ss782975538, ss783936756, ss832231958, ss832891744, ss834325491, ss989173077, ss1078201314, ss1343759965, ss1426822321, ss1576075074, ss1627892806, ss1670886839, ss1711316742, ss1752064018, ss1807089700, ss1932533457, ss1946329009, ss1959406423, ss1967507507, ss2027013797, ss2155332546, ss2627983403, ss2632916075, ss2699651748, ss2710751776, ss2906659248, ss3009100446, ss3021398963, ss3349890423, ss3625614176, ss3626800000, ss3626800001, ss3630928160, ss3633007605, ss3633707967, ss3634486903, ss3635399069, ss3636171154, ss3637150008, ss3637942899, ss3640194238, ss3641024238, ss3641318833, ss3644581944, ss3651770700, ss3676431269, ss3738714639, ss3744093957, ss3744787636, ss3750063953, ss3772287247, ss3787122492, ss3792239144, ss3797121997, ss3825814578, ss3832941005, ss3840033086, ss3877555329, ss3926050714, ss3984018924, ss3984661096, ss3985571195, ss3986057736, ss3986554816, ss4017570369, ss5204781799, ss5315594656, ss5403533510, ss5510580440, ss5624028084, ss5624292632, ss5652465812, ss5799861528, ss5800064401, ss5800173778, ss5837502130, ss5847402877, ss5847657200, ss5848343093, ss5936551423, ss5943814049, ss5979380015, ss5980715823	NC_000012.11:3049630:C:T	NC_000012.12:2940464:C:T	(self)
73939199, 397555719, 742271, 890784, 87327610, 122220702, 3992141177, ss2187325718, ss3027309588, ss3692990442, ss3725296967, ss3771669315, ss3815380921, ss3845515478, ss4906675045, ss5237217903, ss5289590735, ss5484507120, ss5586413264, ss5753490506, ss5812949334, ss5850233997, ss5903047186	NC_000012.12:2940464:C:T	NC_000012.12:2940464:C:T	(self)
ss16295059	NT_009759.15:2903891:C:T	NC_000012.12:2940464:C:T	(self)
ss3248518, ss66710305, ss67244812, ss67641802, ss70723146, ss71291716, ss75674498, ss79128498, ss84029385, ss121996857, ss153902149, ss157023557, ss159379956, ss160533610, ss171182351, ss173275303	NT_009759.16:2989630:C:T	NC_000012.12:2940464:C:T	(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 rs2302282

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

rs2302282