Name: rs2480054
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.

rs2480054

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:14466039 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.448744 (118778/264690, TOPMED)
A=0.433821 (65881/151862, ALFA)
A=0.448937 (62835/139964, GnomAD) (+ 21 more)
A=0.38357 (10839/28258, 14KJPN)
A=0.38592 (6468/16760, 8.3KJPN)
A=0.4304 (2756/6404, 1000G_30x)
A=0.4273 (2140/5008, 1000G)
A=0.4190 (1877/4480, Estonian)
A=0.4323 (1666/3854, ALSPAC)
A=0.4323 (1603/3708, TWINSUK)
A=0.4038 (1183/2930, KOREAN)
A=0.4343 (820/1888, HapMap)
A=0.3821 (700/1832, Korea1K)
A=0.4134 (468/1132, Daghestan)
A=0.431 (430/998, GoNL)
A=0.348 (266/764, PRJEB37584)
A=0.368 (221/600, NorthernSweden)
A=0.291 (136/468, SGDP_PRJ)
A=0.389 (84/216, Qatari)
A=0.269 (57/212, Vietnamese)
G=0.47 (38/80, Ancient Sardinia)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
A=0.34 (13/38, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KAZN : 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	151862	A=0.433821	G=0.566179
European	Sub	125974	A=0.426786	G=0.573214
African	Sub	8848	A=0.4884	G=0.5116
African Others	Sub	304	A=0.467	G=0.533
African American	Sub	8544	A=0.4891	G=0.5109
Asian	Sub	672	A=0.286	G=0.714
East Asian	Sub	508	A=0.325	G=0.675
Other Asian	Sub	164	A=0.165	G=0.835
Latin American 1	Sub	884	A=0.483	G=0.517
Latin American 2	Sub	8436	A=0.5011	G=0.4989
South Asian	Sub	198	A=0.419	G=0.581
Other	Sub	6850	A=0.4185	G=0.5815

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	A=0.448744	G=0.551256
Allele Frequency Aggregator	Total	Global	151862	A=0.433821	G=0.566179
Allele Frequency Aggregator	European	Sub	125974	A=0.426786	G=0.573214
Allele Frequency Aggregator	African	Sub	8848	A=0.4884	G=0.5116
Allele Frequency Aggregator	Latin American 2	Sub	8436	A=0.5011	G=0.4989
Allele Frequency Aggregator	Other	Sub	6850	A=0.4185	G=0.5815
Allele Frequency Aggregator	Latin American 1	Sub	884	A=0.483	G=0.517
Allele Frequency Aggregator	Asian	Sub	672	A=0.286	G=0.714
Allele Frequency Aggregator	South Asian	Sub	198	A=0.419	G=0.581
gnomAD - Genomes	Global	Study-wide	139964	A=0.448937	G=0.551063
gnomAD - Genomes	European	Sub	75818	A=0.43347	G=0.56653
gnomAD - Genomes	African	Sub	41900	A=0.48680	G=0.51320
gnomAD - Genomes	American	Sub	13652	A=0.46594	G=0.53406
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.3860	G=0.6140
gnomAD - Genomes	East Asian	Sub	3124	A=0.3147	G=0.6853
gnomAD - Genomes	Other	Sub	2146	A=0.4408	G=0.5592
14KJPN	JAPANESE	Study-wide	28258	A=0.38357	G=0.61643
8.3KJPN	JAPANESE	Study-wide	16760	A=0.38592	G=0.61408
1000Genomes_30x	Global	Study-wide	6404	A=0.4304	G=0.5696
1000Genomes_30x	African	Sub	1786	A=0.4983	G=0.5017
1000Genomes_30x	Europe	Sub	1266	A=0.4297	G=0.5703
1000Genomes_30x	South Asian	Sub	1202	A=0.4243	G=0.5757
1000Genomes_30x	East Asian	Sub	1170	A=0.2974	G=0.7026
1000Genomes_30x	American	Sub	980	A=0.473	G=0.527
1000Genomes	Global	Study-wide	5008	A=0.4273	G=0.5727
1000Genomes	African	Sub	1322	A=0.5000	G=0.5000
1000Genomes	East Asian	Sub	1008	A=0.3026	G=0.6974
1000Genomes	Europe	Sub	1006	A=0.4344	G=0.5656
1000Genomes	South Asian	Sub	978	A=0.420	G=0.580
1000Genomes	American	Sub	694	A=0.470	G=0.530
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4190	G=0.5810
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4323	G=0.5677
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4323	G=0.5677
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4038	G=0.5962, T=0.0000
HapMap	Global	Study-wide	1888	A=0.4343	G=0.5657
HapMap	American	Sub	768	A=0.417	G=0.583
HapMap	African	Sub	690	A=0.467	G=0.533
HapMap	Asian	Sub	254	A=0.417	G=0.583
HapMap	Europe	Sub	176	A=0.409	G=0.591
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3821	G=0.6179
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	A=0.4134	G=0.5866
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	A=0.415	G=0.585
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.403	G=0.597
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.443	G=0.557
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.380	G=0.620
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.40	G=0.60
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.47	G=0.53
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.431	G=0.569
CNV burdens in cranial meningiomas	Global	Study-wide	764	A=0.348	G=0.652
CNV burdens in cranial meningiomas	CRM	Sub	764	A=0.348	G=0.652
Northern Sweden	ACPOP	Study-wide	600	A=0.368	G=0.632
SGDP_PRJ	Global	Study-wide	468	A=0.291	G=0.709
Qatari	Global	Study-wide	216	A=0.389	G=0.611
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.269	G=0.731
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	A=0.53	G=0.47
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	G=0.50
Siberian	Global	Study-wide	38	A=0.34	G=0.66

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.14466039A>G
GRCh38.p14 chr 1	NC_000001.11:g.14466039A>T
GRCh37.p13 chr 1	NC_000001.10:g.14792535A>G
GRCh37.p13 chr 1	NC_000001.10:g.14792535A>T
KAZN RefSeqGene	NG_029844.2:g.577654A>G
KAZN RefSeqGene	NG_029844.2:g.577654A>T

Gene: KAZN, kazrin, periplakin interacting protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KAZN transcript variant D	NM_001017999.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant B	NM_001018000.4:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant C	NM_001018001.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant F	NM_001370229.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant G	NM_001370230.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant H	NM_001370231.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant A	NM_015209.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant E	NM_201628.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X4	XM_005245795.6:c.280-1329… XM_005245795.6:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X1	XM_011541074.4:c.280-1329… XM_011541074.4:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X8	XM_011541080.4:c.280-1329… XM_011541080.4:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X10	XM_017000768.3:c.280-1329… XM_017000768.3:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X11	XM_017000769.3:c.280-1329… XM_017000769.3:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X12	XM_017000770.3:c.280-1329… XM_017000770.3:c.280-132944A>G	N/A	Intron Variant
KAZN transcript variant X3	XM_011541075.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X7	XM_011541076.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X6	XM_011541077.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X13	XM_017000771.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X2	XM_047415845.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X5	XM_047415858.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X9	XM_047415868.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X14	XM_047415880.1: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	A=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.14466039=	NC_000001.11:g.14466039A>G	NC_000001.11:g.14466039A>T
GRCh37.p13 chr 1	NC_000001.10:g.14792535=	NC_000001.10:g.14792535A>G	NC_000001.10:g.14792535A>T
KAZN RefSeqGene	NG_029844.2:g.577654=	NG_029844.2:g.577654A>G	NG_029844.2:g.577654A>T
KAZN transcript variant X1	XM_005245795.1:c.280-132944=	XM_005245795.1:c.280-132944A>G	XM_005245795.1:c.280-132944A>T
KAZN transcript variant X4	XM_005245795.6:c.280-132944=	XM_005245795.6:c.280-132944A>G	XM_005245795.6:c.280-132944A>T
KAZN transcript variant X2	XM_005245796.1:c.280-132944=	XM_005245796.1:c.280-132944A>G	XM_005245796.1:c.280-132944A>T
KAZN transcript variant X1	XM_011541074.4:c.280-132944=	XM_011541074.4:c.280-132944A>G	XM_011541074.4:c.280-132944A>T
KAZN transcript variant X8	XM_011541080.4:c.280-132944=	XM_011541080.4:c.280-132944A>G	XM_011541080.4:c.280-132944A>T
KAZN transcript variant X10	XM_017000768.3:c.280-132944=	XM_017000768.3:c.280-132944A>G	XM_017000768.3:c.280-132944A>T
KAZN transcript variant X11	XM_017000769.3:c.280-132944=	XM_017000769.3:c.280-132944A>G	XM_017000769.3:c.280-132944A>T
KAZN transcript variant X12	XM_017000770.3:c.280-132944=	XM_017000770.3:c.280-132944A>G	XM_017000770.3:c.280-132944A>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#.

110 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3477038	Sep 28, 2001 (100)
2	SC_SNP	ss13019710	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss17326872	Feb 27, 2004 (120)
4	SSAHASNP	ss20465410	Apr 05, 2004 (123)
5	ABI	ss41068865	Mar 15, 2006 (126)
6	AFFY	ss66121752	Nov 29, 2006 (127)
7	PERLEGEN	ss68759189	May 16, 2007 (127)
8	ILLUMINA	ss75022898	Dec 07, 2007 (129)
9	AFFY	ss76115990	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss81801986	Dec 15, 2007 (130)
11	HUMANGENOME_JCVI	ss97920464	Feb 05, 2009 (130)
12	BGI	ss105122923	Dec 01, 2009 (131)
13	1000GENOMES	ss108006400	Jan 22, 2009 (130)
14	1000GENOMES	ss110084794	Jan 24, 2009 (130)
15	ILLUMINA-UK	ss118510931	Feb 14, 2009 (130)
16	ENSEMBL	ss139224131	Dec 01, 2009 (131)
17	ILLUMINA	ss160551578	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss163099456	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss163857866	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss166123259	Jul 04, 2010 (132)
21	AFFY	ss172552835	Jul 04, 2010 (132)
22	BUSHMAN	ss198051547	Jul 04, 2010 (132)
23	1000GENOMES	ss218247459	Jul 14, 2010 (132)
24	1000GENOMES	ss230434720	Jul 14, 2010 (132)
25	1000GENOMES	ss238148764	Jul 15, 2010 (132)
26	GMI	ss275723788	May 04, 2012 (137)
27	GMI	ss284004349	Apr 25, 2013 (138)
28	PJP	ss290627368	May 09, 2011 (134)
29	ILLUMINA	ss480581898	May 04, 2012 (137)
30	ILLUMINA	ss480596370	May 04, 2012 (137)
31	ILLUMINA	ss481420590	Sep 08, 2015 (146)
32	ILLUMINA	ss485086428	May 04, 2012 (137)
33	ILLUMINA	ss537095712	Sep 08, 2015 (146)
34	TISHKOFF	ss553819259	Apr 25, 2013 (138)
35	SSMP	ss647592315	Apr 25, 2013 (138)
36	ILLUMINA	ss778497595	Aug 21, 2014 (142)
37	ILLUMINA	ss782989489	Aug 21, 2014 (142)
38	ILLUMINA	ss783950312	Aug 21, 2014 (142)
39	ILLUMINA	ss832246267	Apr 01, 2015 (144)
40	ILLUMINA	ss833953662	Aug 21, 2014 (142)
41	EVA-GONL	ss974878412	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1067685658	Aug 21, 2014 (142)
43	1000GENOMES	ss1289772068	Aug 21, 2014 (142)
44	HAMMER_LAB	ss1397240174	Sep 08, 2015 (146)
45	DDI	ss1425720349	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1573900490	Apr 01, 2015 (144)
47	EVA_DECODE	ss1584235800	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1599591599	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1642585632	Apr 01, 2015 (144)
50	EVA_SVP	ss1712312782	Apr 01, 2015 (144)
51	ILLUMINA	ss1751869426	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1793938615	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1918081452	Feb 12, 2016 (147)
54	GENOMED	ss1966689131	Jul 19, 2016 (147)
55	JJLAB	ss2019554304	Sep 14, 2016 (149)
56	USC_VALOUEV	ss2147552781	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2160217019	Dec 20, 2016 (150)
58	SYSTEMSBIOZJU	ss2624293045	Nov 08, 2017 (151)
59	ILLUMINA	ss2632480437	Nov 08, 2017 (151)
60	GRF	ss2697453612	Nov 08, 2017 (151)
61	GNOMAD	ss2751891487	Nov 08, 2017 (151)
62	SWEGEN	ss2986343992	Nov 08, 2017 (151)
63	BIOINF_KMB_FNS_UNIBA	ss3023540833	Nov 08, 2017 (151)
64	CSHL	ss3343329957	Nov 08, 2017 (151)
65	ILLUMINA	ss3626031469	Oct 11, 2018 (152)
66	ILLUMINA	ss3630518640	Oct 11, 2018 (152)
67	ILLUMINA	ss3632881655	Oct 11, 2018 (152)
68	ILLUMINA	ss3633575540	Oct 11, 2018 (152)
69	ILLUMINA	ss3634308189	Oct 11, 2018 (152)
70	ILLUMINA	ss3635269638	Oct 11, 2018 (152)
71	ILLUMINA	ss3635984386	Oct 11, 2018 (152)
72	ILLUMINA	ss3637020014	Oct 11, 2018 (152)
73	ILLUMINA	ss3640015553	Oct 11, 2018 (152)
74	ILLUMINA	ss3642752497	Oct 11, 2018 (152)
75	URBANLAB	ss3646605338	Oct 11, 2018 (152)
76	EGCUT_WGS	ss3654431216	Jul 12, 2019 (153)
77	EVA_DECODE	ss3686210244	Jul 12, 2019 (153)
78	ACPOP	ss3726810963	Jul 12, 2019 (153)
79	ILLUMINA	ss3744609157	Jul 12, 2019 (153)
80	EVA	ss3745856930	Jul 12, 2019 (153)
81	ILLUMINA	ss3772110761	Jul 12, 2019 (153)
82	PACBIO	ss3783330403	Jul 12, 2019 (153)
83	PACBIO	ss3789003753	Jul 12, 2019 (153)
84	PACBIO	ss3793876468	Jul 12, 2019 (153)
85	KHV_HUMAN_GENOMES	ss3798878221	Jul 12, 2019 (153)
86	EVA	ss3826034509	Apr 25, 2020 (154)
87	EVA	ss3836404762	Apr 25, 2020 (154)
88	EVA	ss3841808890	Apr 25, 2020 (154)
89	SGDP_PRJ	ss3848256364	Apr 25, 2020 (154)
90	KRGDB	ss3893147567	Apr 25, 2020 (154)
91	KOGIC	ss3943878814	Apr 25, 2020 (154)
92	EVA	ss3984452537	Apr 25, 2021 (155)
93	EVA	ss3984779891	Apr 25, 2021 (155)
94	EVA	ss4016894585	Apr 25, 2021 (155)
95	TOPMED	ss4439974707	Apr 25, 2021 (155)
96	TOMMO_GENOMICS	ss5142598108	Apr 25, 2021 (155)
97	1000G_HIGH_COVERAGE	ss5241268904	Oct 17, 2022 (156)
98	EVA	ss5314594788	Oct 17, 2022 (156)
99	EVA	ss5316905951	Oct 17, 2022 (156)
100	HUGCELL_USP	ss5442451719	Oct 17, 2022 (156)
101	1000G_HIGH_COVERAGE	ss5513067318	Oct 17, 2022 (156)
102	SANFORD_IMAGENETICS	ss5624197219	Oct 17, 2022 (156)
103	SANFORD_IMAGENETICS	ss5624976850	Oct 17, 2022 (156)
104	TOMMO_GENOMICS	ss5666943137	Oct 17, 2022 (156)
105	EVA	ss5799475796	Oct 17, 2022 (156)
106	YY_MCH	ss5800348815	Oct 17, 2022 (156)
107	EVA	ss5831571864	Oct 17, 2022 (156)
108	EVA	ss5848793628	Oct 17, 2022 (156)
109	EVA	ss5907132719	Oct 17, 2022 (156)
110	EVA	ss5936796038	Oct 17, 2022 (156)
111	1000Genomes	NC_000001.10 - 14792535	Oct 11, 2018 (152)
112	1000Genomes_30x	NC_000001.11 - 14466039	Oct 17, 2022 (156)
113	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 14792535	Oct 11, 2018 (152)
114	Genome-wide autozygosity in Daghestan	NC_000001.9 - 14665122	Apr 25, 2020 (154)
115	Genetic variation in the Estonian population	NC_000001.10 - 14792535	Oct 11, 2018 (152)
116	The Danish reference pan genome	NC_000001.10 - 14792535	Apr 25, 2020 (154)
117	gnomAD - Genomes	NC_000001.11 - 14466039	Apr 25, 2021 (155)
118	Genome of the Netherlands Release 5	NC_000001.10 - 14792535	Apr 25, 2020 (154)
119	HapMap	NC_000001.11 - 14466039	Apr 25, 2020 (154)
120	KOREAN population from KRGDB	NC_000001.10 - 14792535	Apr 25, 2020 (154)
121	Korean Genome Project	NC_000001.11 - 14466039	Apr 25, 2020 (154)
122	Northern Sweden	NC_000001.10 - 14792535	Jul 12, 2019 (153)
123	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 14792535	Apr 25, 2021 (155)
124	CNV burdens in cranial meningiomas	NC_000001.10 - 14792535	Apr 25, 2021 (155)
125	Qatari	NC_000001.10 - 14792535	Apr 25, 2020 (154)
126	SGDP_PRJ	NC_000001.10 - 14792535	Apr 25, 2020 (154)
127	Siberian	NC_000001.10 - 14792535	Apr 25, 2020 (154)
128	8.3KJPN	NC_000001.10 - 14792535	Apr 25, 2021 (155)
129	14KJPN	NC_000001.11 - 14466039	Oct 17, 2022 (156)
130	TopMed	NC_000001.11 - 14466039	Apr 25, 2021 (155)
131	UK 10K study - Twins	NC_000001.10 - 14792535	Oct 11, 2018 (152)
132	A Vietnamese Genetic Variation Database	NC_000001.10 - 14792535	Jul 12, 2019 (153)
133	ALFA	NC_000001.11 - 14466039	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)
rs12730082	Sep 24, 2004 (123)
rs58553509	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1652, ss66121752, ss76115990, ss108006400, ss110084794, ss118510931, ss160551578, ss163099456, ss163857866, ss166123259, ss172552835, ss198051547, ss275723788, ss284004349, ss290627368, ss480581898, ss1397240174, ss1584235800, ss1712312782, ss3642752497	NC_000001.9:14665121:A:G	NC_000001.11:14466038:A:G	(self)
451087, 234597, 169464, 1398703, 101420, 324961, 95828, 5818, 1839, 123382, 273344, 69135, 567415, 234597, 49793, ss218247459, ss230434720, ss238148764, ss480596370, ss481420590, ss485086428, ss537095712, ss553819259, ss647592315, ss778497595, ss782989489, ss783950312, ss832246267, ss833953662, ss974878412, ss1067685658, ss1289772068, ss1425720349, ss1573900490, ss1599591599, ss1642585632, ss1751869426, ss1793938615, ss1918081452, ss1966689131, ss2019554304, ss2147552781, ss2624293045, ss2632480437, ss2697453612, ss2751891487, ss2986343992, ss3343329957, ss3626031469, ss3630518640, ss3632881655, ss3633575540, ss3634308189, ss3635269638, ss3635984386, ss3637020014, ss3640015553, ss3654431216, ss3726810963, ss3744609157, ss3745856930, ss3772110761, ss3783330403, ss3789003753, ss3793876468, ss3826034509, ss3836404762, ss3848256364, ss3893147567, ss3984452537, ss3984779891, ss4016894585, ss5142598108, ss5314594788, ss5316905951, ss5624197219, ss5624976850, ss5799475796, ss5831571864, ss5936796038	NC_000001.10:14792534:A:G	NC_000001.11:14466038:A:G	(self)
593253, 3165769, 17534, 256815, 780241, 3581042, 12162265678, ss2160217019, ss3023540833, ss3646605338, ss3686210244, ss3798878221, ss3841808890, ss3943878814, ss4439974707, ss5241268904, ss5442451719, ss5513067318, ss5666943137, ss5800348815, ss5848793628, ss5907132719	NC_000001.11:14466038:A:G	NC_000001.11:14466038:A:G	(self)
ss3477038, ss41068865, ss68759189, ss75022898, ss81801986, ss97920464, ss105122923, ss139224131	NT_004610.19:1472622:A:G	NC_000001.11:14466038:A:G	(self)
ss13019710	NT_004873.14:1169699:A:G	NC_000001.11:14466038:A:G	(self)
ss17326872, ss20465410	NT_004873.15:1169699:A:G	NC_000001.11:14466038:A:G	(self)
324961, ss3893147567	NC_000001.10:14792534:A:T	NC_000001.11:14466038:A: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 rs2480054

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

rs2480054