Name: rs2301460
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.

rs2301460

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:7329884 (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>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.297847 (78837/264690, TOPMED)
C=0.288373 (40987/142132, ALFA)
C=0.295983 (41459/140072, GnomAD) (+ 17 more)
A=0.34118 (9641/28258, 14KJPN)
A=0.33926 (5686/16760, 8.3KJPN)
C=0.3660 (2344/6404, 1000G_30x)
C=0.3724 (1865/5008, 1000G)
C=0.2929 (1312/4480, Estonian)
C=0.3002 (1157/3854, ALSPAC)
C=0.2969 (1101/3708, TWINSUK)
A=0.3942 (1155/2930, KOREAN)
A=0.3996 (732/1832, Korea1K)
C=0.2593 (292/1126, Daghestan)
C=0.324 (323/998, GoNL)
C=0.343 (206/600, NorthernSweden)
A=0.351 (120/342, SGDP_PRJ)
C=0.337 (105/312, HapMap)
C=0.227 (49/216, Qatari)
A=0.39 (17/44, Siberian)
C=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAMTA1 : 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	142132	A=0.711627	C=0.288373
European	Sub	122680	A=0.710205	C=0.289795
African	Sub	5532	A=0.6985	C=0.3015
African Others	Sub	208	A=0.707	C=0.293
African American	Sub	5324	A=0.6982	C=0.3018
Asian	Sub	622	A=0.404	C=0.596
East Asian	Sub	490	A=0.388	C=0.612
Other Asian	Sub	132	A=0.462	C=0.538
Latin American 1	Sub	734	A=0.732	C=0.268
Latin American 2	Sub	6250	A=0.7914	C=0.2086
South Asian	Sub	184	A=0.554	C=0.446
Other	Sub	6130	A=0.7042	C=0.2958

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=0.702153	C=0.297847
Allele Frequency Aggregator	Total	Global	142132	A=0.711627	C=0.288373
Allele Frequency Aggregator	European	Sub	122680	A=0.710205	C=0.289795
Allele Frequency Aggregator	Latin American 2	Sub	6250	A=0.7914	C=0.2086
Allele Frequency Aggregator	Other	Sub	6130	A=0.7042	C=0.2958
Allele Frequency Aggregator	African	Sub	5532	A=0.6985	C=0.3015
Allele Frequency Aggregator	Latin American 1	Sub	734	A=0.732	C=0.268
Allele Frequency Aggregator	Asian	Sub	622	A=0.404	C=0.596
Allele Frequency Aggregator	South Asian	Sub	184	A=0.554	C=0.446
gnomAD - Genomes	Global	Study-wide	140072	A=0.704017	C=0.295983
gnomAD - Genomes	European	Sub	75878	A=0.70413	C=0.29587
gnomAD - Genomes	African	Sub	41962	A=0.70194	C=0.29806
gnomAD - Genomes	American	Sub	13636	A=0.75469	C=0.24531
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.7673	C=0.2327
gnomAD - Genomes	East Asian	Sub	3124	A=0.4366	C=0.5634
gnomAD - Genomes	Other	Sub	2150	A=0.7098	C=0.2902
14KJPN	JAPANESE	Study-wide	28258	A=0.34118	C=0.65882
8.3KJPN	JAPANESE	Study-wide	16760	A=0.33926	C=0.66074
1000Genomes_30x	Global	Study-wide	6404	A=0.6340	C=0.3660
1000Genomes_30x	African	Sub	1786	A=0.6999	C=0.3001
1000Genomes_30x	Europe	Sub	1266	A=0.7330	C=0.2670
1000Genomes_30x	South Asian	Sub	1202	A=0.5441	C=0.4559
1000Genomes_30x	East Asian	Sub	1170	A=0.4248	C=0.5752
1000Genomes_30x	American	Sub	980	A=0.746	C=0.254
1000Genomes	Global	Study-wide	5008	A=0.6276	C=0.3724
1000Genomes	African	Sub	1322	A=0.7005	C=0.2995
1000Genomes	East Asian	Sub	1008	A=0.4206	C=0.5794
1000Genomes	Europe	Sub	1006	A=0.7336	C=0.2664
1000Genomes	South Asian	Sub	978	A=0.547	C=0.453
1000Genomes	American	Sub	694	A=0.749	C=0.251
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7071	C=0.2929
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6998	C=0.3002
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7031	C=0.2969
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3942	C=0.6058, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3996	C=0.6004
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	A=0.7407	C=0.2593
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	A=0.788	C=0.212
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.715	C=0.285
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.648	C=0.352
Genome-wide autozygosity in Daghestan	Europe	Sub	104	A=0.692	C=0.308
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.58	C=0.42
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.92	C=0.08
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.676	C=0.324
Northern Sweden	ACPOP	Study-wide	600	A=0.657	C=0.343
SGDP_PRJ	Global	Study-wide	342	A=0.351	C=0.649
HapMap	Global	Study-wide	312	A=0.663	C=0.337
HapMap	African	Sub	120	A=0.700	C=0.300
HapMap	American	Sub	120	A=0.758	C=0.242
HapMap	Asian	Sub	72	A=0.44	C=0.56
Qatari	Global	Study-wide	216	A=0.773	C=0.227
Siberian	Global	Study-wide	44	A=0.39	C=0.61
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	C=0.38

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.7329884A>C
GRCh38.p14 chr 1	NC_000001.11:g.7329884A>T
GRCh37.p13 chr 1	NC_000001.10:g.7389944A>C
GRCh37.p13 chr 1	NC_000001.10:g.7389944A>T
CAMTA1 RefSeqGene	NG_053148.1:g.549561A>C
CAMTA1 RefSeqGene	NG_053148.1:g.549561A>T

Gene: CAMTA1, calmodulin binding transcription activator 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAMTA1 transcript variant 5	NM_001349608.2:c.348+8025… NM_001349608.2:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant 6	NM_001349609.2:c.438+8025… NM_001349609.2:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant 7	NM_001349610.2:c.438+8025… NM_001349610.2:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant 8	NM_001349612.2:c.348+8025… NM_001349612.2:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant 1	NM_015215.4:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant 9	NM_001349613.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 10	NM_001349614.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 11	NM_001349615.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 12	NM_001349616.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 13	NM_001349617.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 14	NM_001349618.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 15	NM_001349619.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 16	NM_001349620.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 17	NM_001349621.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 18	NM_001349622.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 19	NM_001349623.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 20	NM_001349624.3:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 21	NM_001349625.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 22	NM_001349626.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant 2	NM_001195563.2:c.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 3	NM_001242701.2:c.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 23	NM_001349627.2:c.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 4	NR_038934.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 25	NR_146202.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 26	NR_146203.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant 27	NR_146204.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant X1	XM_011541083.3:c.438+8025… XM_011541083.3:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X2	XM_011541084.3:c.438+8025… XM_011541084.3:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X4	XM_011541086.4:c.438+8025… XM_011541086.4:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X6	XM_011541087.3:c.438+8025… XM_011541087.3:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X8	XM_011541088.3:c.348+8025… XM_011541088.3:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X13	XM_011541090.4:c.438+8025… XM_011541090.4:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_011541091.3:c.438+8025… XM_011541091.3:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X17	XM_011541092.4:c.438+8025… XM_011541092.4:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X5	XM_017000774.3:c.438+8025… XM_017000774.3:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000777.2:c.438+8025… XM_017000777.2:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000778.2:c.438+8025… XM_017000778.2:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X24	XM_017000780.3:c.439-4019… XM_017000780.3:c.439-40197A>C	N/A	Intron Variant
CAMTA1 transcript variant X3	XM_047415988.1:c.426+8025… XM_047415988.1:c.426+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X7	XM_047415993.1:c.438+8025… XM_047415993.1:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X9	XM_047415997.1:c.438+8025… XM_047415997.1:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X10	XM_047415999.1:c.348+8025… XM_047415999.1:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X11	XM_047416005.1:c.348+8025… XM_047416005.1:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X12	XM_047416009.1:c.120+8025… XM_047416009.1:c.120+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_047416020.1:c.438+8025… XM_047416020.1:c.438+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X15	XM_047416024.1:c.348+8025… XM_047416024.1:c.348+80258A>C	N/A	Intron Variant
CAMTA1 transcript variant X18	XM_024454329.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X19	XM_024454330.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X20	XM_024454331.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X21	XM_024454332.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X22	XM_024454333.2:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X23	XM_024454334.1:c.	N/A	Genic Upstream Transcript Variant
CAMTA1 transcript variant X25	XM_017000781.2:c.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant X26	XR_001737062.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant X28	XR_001737064.2:n.	N/A	Genic Downstream Transcript Variant
CAMTA1 transcript variant X27	XR_007057950.1:n.	N/A	Genic Downstream 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=	C	T
GRCh38.p14 chr 1	NC_000001.11:g.7329884=	NC_000001.11:g.7329884A>C	NC_000001.11:g.7329884A>T
GRCh37.p13 chr 1	NC_000001.10:g.7389944=	NC_000001.10:g.7389944A>C	NC_000001.10:g.7389944A>T
CAMTA1 RefSeqGene	NG_053148.1:g.549561=	NG_053148.1:g.549561A>C	NG_053148.1:g.549561A>T
CAMTA1 transcript variant 5	NM_001349608.2:c.348+80258=	NM_001349608.2:c.348+80258A>C	NM_001349608.2:c.348+80258A>T
CAMTA1 transcript variant 6	NM_001349609.2:c.438+80258=	NM_001349609.2:c.438+80258A>C	NM_001349609.2:c.438+80258A>T
CAMTA1 transcript variant 7	NM_001349610.2:c.438+80258=	NM_001349610.2:c.438+80258A>C	NM_001349610.2:c.438+80258A>T
CAMTA1 transcript variant 8	NM_001349612.2:c.348+80258=	NM_001349612.2:c.348+80258A>C	NM_001349612.2:c.348+80258A>T
CAMTA1 transcript variant 1	NM_015215.2:c.438+80258=	NM_015215.2:c.438+80258A>C	NM_015215.2:c.438+80258A>T
CAMTA1 transcript variant 1	NM_015215.4:c.438+80258=	NM_015215.4:c.438+80258A>C	NM_015215.4:c.438+80258A>T
CAMTA1 transcript variant X1	XM_011541083.3:c.438+80258=	XM_011541083.3:c.438+80258A>C	XM_011541083.3:c.438+80258A>T
CAMTA1 transcript variant X2	XM_011541084.3:c.438+80258=	XM_011541084.3:c.438+80258A>C	XM_011541084.3:c.438+80258A>T
CAMTA1 transcript variant X4	XM_011541086.4:c.438+80258=	XM_011541086.4:c.438+80258A>C	XM_011541086.4:c.438+80258A>T
CAMTA1 transcript variant X6	XM_011541087.3:c.438+80258=	XM_011541087.3:c.438+80258A>C	XM_011541087.3:c.438+80258A>T
CAMTA1 transcript variant X8	XM_011541088.3:c.348+80258=	XM_011541088.3:c.348+80258A>C	XM_011541088.3:c.348+80258A>T
CAMTA1 transcript variant X13	XM_011541090.4:c.438+80258=	XM_011541090.4:c.438+80258A>C	XM_011541090.4:c.438+80258A>T
CAMTA1 transcript variant X16	XM_011541091.3:c.438+80258=	XM_011541091.3:c.438+80258A>C	XM_011541091.3:c.438+80258A>T
CAMTA1 transcript variant X17	XM_011541092.4:c.438+80258=	XM_011541092.4:c.438+80258A>C	XM_011541092.4:c.438+80258A>T
CAMTA1 transcript variant X5	XM_017000774.3:c.438+80258=	XM_017000774.3:c.438+80258A>C	XM_017000774.3:c.438+80258A>T
CAMTA1 transcript variant X14	XM_017000777.2:c.438+80258=	XM_017000777.2:c.438+80258A>C	XM_017000777.2:c.438+80258A>T
CAMTA1 transcript variant X14	XM_017000778.2:c.438+80258=	XM_017000778.2:c.438+80258A>C	XM_017000778.2:c.438+80258A>T
CAMTA1 transcript variant X24	XM_017000780.3:c.439-40197=	XM_017000780.3:c.439-40197A>C	XM_017000780.3:c.439-40197A>T
CAMTA1 transcript variant X3	XM_047415988.1:c.426+80258=	XM_047415988.1:c.426+80258A>C	XM_047415988.1:c.426+80258A>T
CAMTA1 transcript variant X7	XM_047415993.1:c.438+80258=	XM_047415993.1:c.438+80258A>C	XM_047415993.1:c.438+80258A>T
CAMTA1 transcript variant X9	XM_047415997.1:c.438+80258=	XM_047415997.1:c.438+80258A>C	XM_047415997.1:c.438+80258A>T
CAMTA1 transcript variant X10	XM_047415999.1:c.348+80258=	XM_047415999.1:c.348+80258A>C	XM_047415999.1:c.348+80258A>T
CAMTA1 transcript variant X11	XM_047416005.1:c.348+80258=	XM_047416005.1:c.348+80258A>C	XM_047416005.1:c.348+80258A>T
CAMTA1 transcript variant X12	XM_047416009.1:c.120+80258=	XM_047416009.1:c.120+80258A>C	XM_047416009.1:c.120+80258A>T
CAMTA1 transcript variant X16	XM_047416020.1:c.438+80258=	XM_047416020.1:c.438+80258A>C	XM_047416020.1:c.438+80258A>T
CAMTA1 transcript variant X15	XM_047416024.1:c.348+80258=	XM_047416024.1:c.348+80258A>C	XM_047416024.1:c.348+80258A>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#.

98 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3247442	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss9812727	Jul 11, 2003 (116)
3	ABI	ss43978036	Mar 13, 2006 (126)
4	AFFY	ss65919793	Nov 30, 2006 (127)
5	HGSV	ss83054276	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss87199005	Mar 23, 2008 (129)
7	BGI	ss102717031	Dec 01, 2009 (131)
8	1000GENOMES	ss107971486	Jan 22, 2009 (130)
9	1000GENOMES	ss110013594	Jan 24, 2009 (130)
10	ENSEMBL	ss137781458	Dec 01, 2009 (131)
11	ENSEMBL	ss138902321	Dec 01, 2009 (131)
12	GMI	ss154601675	Dec 01, 2009 (131)
13	ILLUMINA	ss160533358	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss163038225	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss163785710	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss166055244	Jul 04, 2010 (132)
17	1000GENOMES	ss218221238	Jul 14, 2010 (132)
18	1000GENOMES	ss230416686	Jul 14, 2010 (132)
19	1000GENOMES	ss238133431	Jul 15, 2010 (132)
20	BL	ss252898945	May 09, 2011 (134)
21	GMI	ss275703370	May 04, 2012 (137)
22	PJP	ss290570573	May 09, 2011 (134)
23	ILLUMINA	ss480521877	May 04, 2012 (137)
24	ILLUMINA	ss480537103	May 04, 2012 (137)
25	ILLUMINA	ss481347846	Sep 08, 2015 (146)
26	ILLUMINA	ss485058231	May 04, 2012 (137)
27	ILLUMINA	ss537074476	Sep 08, 2015 (146)
28	TISHKOFF	ss553764501	Apr 25, 2013 (138)
29	SSMP	ss647556892	Apr 25, 2013 (138)
30	ILLUMINA	ss778491424	Sep 08, 2015 (146)
31	ILLUMINA	ss782975344	Sep 08, 2015 (146)
32	ILLUMINA	ss783936582	Sep 08, 2015 (146)
33	ILLUMINA	ss832231756	Sep 08, 2015 (146)
34	ILLUMINA	ss833947430	Sep 08, 2015 (146)
35	EVA-GONL	ss974827008	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1067649886	Aug 21, 2014 (142)
37	1000GENOMES	ss1289568081	Aug 21, 2014 (142)
38	HAMMER_LAB	ss1397239253	Sep 08, 2015 (146)
39	DDI	ss1425703551	Apr 01, 2015 (144)
40	EVA_GENOME_DK	ss1573873404	Apr 01, 2015 (144)
41	EVA_DECODE	ss1584185302	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1599489041	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1642483074	Apr 01, 2015 (144)
44	ILLUMINA	ss1751932083	Sep 08, 2015 (146)
45	HAMMER_LAB	ss1793847238	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1918024508	Feb 12, 2016 (147)
47	GENOMED	ss1966678667	Jul 19, 2016 (147)
48	JJLAB	ss2019528013	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2147521867	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2159808717	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2624279762	Nov 08, 2017 (151)
52	ILLUMINA	ss2632473331	Nov 08, 2017 (151)
53	GRF	ss2697417511	Nov 08, 2017 (151)
54	GNOMAD	ss2751289168	Nov 08, 2017 (151)
55	SWEGEN	ss2986249111	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3023528503	Nov 08, 2017 (151)
57	CSHL	ss3343304782	Nov 08, 2017 (151)
58	ILLUMINA	ss3626019420	Oct 11, 2018 (152)
59	ILLUMINA	ss3630512294	Oct 11, 2018 (152)
60	ILLUMINA	ss3632879806	Oct 11, 2018 (152)
61	ILLUMINA	ss3633573550	Oct 11, 2018 (152)
62	ILLUMINA	ss3634305199	Oct 11, 2018 (152)
63	ILLUMINA	ss3635267697	Oct 11, 2018 (152)
64	ILLUMINA	ss3635981496	Oct 11, 2018 (152)
65	ILLUMINA	ss3637018059	Oct 11, 2018 (152)
66	ILLUMINA	ss3640012563	Oct 11, 2018 (152)
67	URBANLAB	ss3646593929	Oct 11, 2018 (152)
68	EGCUT_WGS	ss3654349256	Jul 12, 2019 (153)
69	EVA_DECODE	ss3686105384	Jul 12, 2019 (153)
70	ACPOP	ss3726765789	Jul 12, 2019 (153)
71	ILLUMINA	ss3744606175	Jul 12, 2019 (153)
72	EVA	ss3745794121	Jul 12, 2019 (153)
73	ILLUMINA	ss3772107820	Jul 12, 2019 (153)
74	PACBIO	ss3783316911	Jul 12, 2019 (153)
75	PACBIO	ss3788993009	Jul 12, 2019 (153)
76	PACBIO	ss3793865728	Jul 12, 2019 (153)
77	KHV_HUMAN_GENOMES	ss3798814597	Jul 12, 2019 (153)
78	EVA	ss3826009708	Apr 25, 2020 (154)
79	EVA	ss3836391899	Apr 25, 2020 (154)
80	EVA	ss3841796234	Apr 25, 2020 (154)
81	SGDP_PRJ	ss3848133493	Apr 25, 2020 (154)
82	KRGDB	ss3893002995	Apr 25, 2020 (154)
83	KOGIC	ss3943757517	Apr 25, 2020 (154)
84	EVA	ss4016891828	Apr 27, 2021 (155)
85	TOPMED	ss4438244930	Apr 27, 2021 (155)
86	TOMMO_GENOMICS	ss5142333699	Apr 27, 2021 (155)
87	1000G_HIGH_COVERAGE	ss5241070543	Oct 17, 2022 (156)
88	EVA	ss5314590721	Oct 17, 2022 (156)
89	EVA	ss5316563186	Oct 17, 2022 (156)
90	HUGCELL_USP	ss5442285344	Oct 17, 2022 (156)
91	1000G_HIGH_COVERAGE	ss5512783648	Oct 17, 2022 (156)
92	SANFORD_IMAGENETICS	ss5624867553	Oct 17, 2022 (156)
93	TOMMO_GENOMICS	ss5666589413	Oct 17, 2022 (156)
94	YY_MCH	ss5800297719	Oct 17, 2022 (156)
95	EVA	ss5831500947	Oct 17, 2022 (156)
96	EVA	ss5848771960	Oct 17, 2022 (156)
97	EVA	ss5906928421	Oct 17, 2022 (156)
98	EVA	ss5936694044	Oct 17, 2022 (156)
99	1000Genomes	NC_000001.10 - 7389944	Oct 11, 2018 (152)
100	1000Genomes_30x	NC_000001.11 - 7329884	Oct 17, 2022 (156)
101	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 7389944	Oct 11, 2018 (152)
102	Genome-wide autozygosity in Daghestan	NC_000001.9 - 7312531	Apr 25, 2020 (154)
103	Genetic variation in the Estonian population	NC_000001.10 - 7389944	Oct 11, 2018 (152)
104	The Danish reference pan genome	NC_000001.10 - 7389944	Apr 25, 2020 (154)
105	gnomAD - Genomes	NC_000001.11 - 7329884	Apr 27, 2021 (155)
106	Genome of the Netherlands Release 5	NC_000001.10 - 7389944	Apr 25, 2020 (154)
107	HapMap	NC_000001.11 - 7329884	Apr 25, 2020 (154)
108	KOREAN population from KRGDB	NC_000001.10 - 7389944	Apr 25, 2020 (154)
109	Korean Genome Project	NC_000001.11 - 7329884	Apr 25, 2020 (154)
110	Northern Sweden	NC_000001.10 - 7389944	Jul 12, 2019 (153)
111	Qatari	NC_000001.10 - 7389944	Apr 25, 2020 (154)
112	SGDP_PRJ	NC_000001.10 - 7389944	Apr 25, 2020 (154)
113	Siberian	NC_000001.10 - 7389944	Apr 25, 2020 (154)
114	8.3KJPN	NC_000001.10 - 7389944	Apr 27, 2021 (155)
115	14KJPN	NC_000001.11 - 7329884	Oct 17, 2022 (156)
116	TopMed	NC_000001.11 - 7329884	Apr 27, 2021 (155)
117	UK 10K study - Twins	NC_000001.10 - 7389944	Oct 11, 2018 (152)
118	ALFA	NC_000001.11 - 7329884	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)
rs59384999	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83054276	NC_000001.8:7324209:A:C	NC_000001.11:7329883:A:C	(self)
736, ss87199005, ss107971486, ss110013594, ss163038225, ss163785710, ss166055244, ss252898945, ss275703370, ss290570573, ss480521877, ss1397239253, ss1584185302	NC_000001.9:7312530:A:C	NC_000001.11:7329883:A:C	(self)
239784, 120813, 87504, 1379601, 52413, 180389, 50654, 66438, 150473, 38221, 303006, 120813, ss218221238, ss230416686, ss238133431, ss480537103, ss481347846, ss485058231, ss537074476, ss553764501, ss647556892, ss778491424, ss782975344, ss783936582, ss832231756, ss833947430, ss974827008, ss1067649886, ss1289568081, ss1425703551, ss1573873404, ss1599489041, ss1642483074, ss1751932083, ss1793847238, ss1918024508, ss1966678667, ss2019528013, ss2147521867, ss2624279762, ss2632473331, ss2697417511, ss2751289168, ss2986249111, ss3343304782, ss3626019420, ss3630512294, ss3632879806, ss3633573550, ss3634305199, ss3635267697, ss3635981496, ss3637018059, ss3640012563, ss3654349256, ss3726765789, ss3744606175, ss3745794121, ss3772107820, ss3783316911, ss3788993009, ss3793865728, ss3826009708, ss3836391899, ss3848133493, ss3893002995, ss4016891828, ss5142333699, ss5314590721, ss5316563186, ss5624867553, ss5831500947, ss5936694044	NC_000001.10:7389943:A:C	NC_000001.11:7329883:A:C	(self)
309583, 1655328, 8872, 135518, 426517, 1851265, 2151102816, ss2159808717, ss3023528503, ss3646593929, ss3686105384, ss3798814597, ss3841796234, ss3943757517, ss4438244930, ss5241070543, ss5442285344, ss5512783648, ss5666589413, ss5800297719, ss5848771960, ss5906928421	NC_000001.11:7329883:A:C	NC_000001.11:7329883:A:C	(self)
ss3247442, ss43978036, ss65919793, ss102717031, ss137781458, ss138902321, ss154601675, ss160533358	NT_021937.19:3394675:A:C	NC_000001.11:7329883:A:C	(self)
ss9812727	NT_028054.12:1517002:A:C	NC_000001.11:7329883:A:C	(self)
180389, ss3893002995	NC_000001.10:7389943:A:T	NC_000001.11:7329883: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 rs2301460

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

rs2301460