Name: rs2297301
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.

rs2297301

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:64177487 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.019498 (5161/264690, TOPMED)
C=0.029895 (7512/251278, GnomAD_exome)
C=0.019738 (2768/140238, GnomAD) (+ 24 more)
C=0.030156 (3653/121138, ExAC)
C=0.01959 (1147/58544, ALFA)
C=0.14396 (4068/28258, 14KJPN)
C=0.14553 (2439/16760, 8.3KJPN)
C=0.01515 (197/13006, GO-ESP)
C=0.0354 (227/6404, 1000G_30x)
C=0.0385 (193/5008, 1000G)
C=0.0310 (139/4480, Estonian)
C=0.0189 (73/3854, ALSPAC)
C=0.0232 (86/3708, TWINSUK)
C=0.1676 (491/2930, KOREAN)
C=0.0256 (29/1134, Daghestan)
C=0.029 (29/998, GoNL)
C=0.093 (57/614, Vietnamese)
C=0.035 (21/600, NorthernSweden)
C=0.024 (13/534, MGP)
C=0.043 (14/328, HapMap)
C=0.049 (15/304, FINRISK)
C=0.023 (5/216, Qatari)
C=0.00 (0/68, Ancient Sardinia)
T=0.48 (25/52, SGDP_PRJ)
C=0.05 (2/40, GENOME_DK)
T=0.5 (3/6, Siberian)
C=0.5 (3/6, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SYNE2 : 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	74896	T=0.98100	C=0.01900
European	Sub	48932	T=0.97891	C=0.02109
African	Sub	9150	T=0.9943	C=0.0057
African Others	Sub	306	T=1.000	C=0.000
African American	Sub	8844	T=0.9941	C=0.0059
Asian	Sub	196	T=0.867	C=0.133
East Asian	Sub	134	T=0.888	C=0.112
Other Asian	Sub	62	T=0.82	C=0.18
Latin American 1	Sub	584	T=0.993	C=0.007
Latin American 2	Sub	4736	T=0.9844	C=0.0156
South Asian	Sub	116	T=0.940	C=0.060
Other	Sub	11182	T=0.97961	C=0.02039

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.980502	C=0.019498
gnomAD - Exomes	Global	Study-wide	251278	T=0.970105	C=0.029895
gnomAD - Exomes	European	Sub	135292	T=0.973679	C=0.026321
gnomAD - Exomes	Asian	Sub	48992	T=0.93117	C=0.06883
gnomAD - Exomes	American	Sub	34590	T=0.99292	C=0.00708
gnomAD - Exomes	African	Sub	16208	T=0.99537	C=0.00463
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	T=0.98839	C=0.01161
gnomAD - Exomes	Other	Sub	6122	T=0.9768	C=0.0232
gnomAD - Genomes	Global	Study-wide	140238	T=0.980262	C=0.019738
gnomAD - Genomes	European	Sub	75948	T=0.97450	C=0.02550
gnomAD - Genomes	African	Sub	42036	T=0.99508	C=0.00492
gnomAD - Genomes	American	Sub	13656	T=0.98792	C=0.01208
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9889	C=0.0111
gnomAD - Genomes	East Asian	Sub	3128	T=0.8772	C=0.1228
gnomAD - Genomes	Other	Sub	2150	T=0.9823	C=0.0177
ExAC	Global	Study-wide	121138	T=0.969844	C=0.030156
ExAC	Europe	Sub	73258	T=0.97435	C=0.02565
ExAC	Asian	Sub	25142	T=0.93545	C=0.06455
ExAC	American	Sub	11568	T=0.99326	C=0.00674
ExAC	African	Sub	10264	T=0.99493	C=0.00507
ExAC	Other	Sub	906	T=0.977	C=0.023
Allele Frequency Aggregator	Total	Global	58544	T=0.98041	C=0.01959
Allele Frequency Aggregator	European	Sub	38848	T=0.97910	C=0.02090
Allele Frequency Aggregator	Other	Sub	9750	T=0.9792	C=0.0208
Allele Frequency Aggregator	Latin American 2	Sub	4736	T=0.9844	C=0.0156
Allele Frequency Aggregator	African	Sub	4314	T=0.9951	C=0.0049
Allele Frequency Aggregator	Latin American 1	Sub	584	T=0.993	C=0.007
Allele Frequency Aggregator	Asian	Sub	196	T=0.867	C=0.133
Allele Frequency Aggregator	South Asian	Sub	116	T=0.940	C=0.060
14KJPN	JAPANESE	Study-wide	28258	T=0.85604	C=0.14396
8.3KJPN	JAPANESE	Study-wide	16760	T=0.85447	C=0.14553
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.98485	C=0.01515
GO Exome Sequencing Project	European American	Sub	8600	T=0.9799	C=0.0201
GO Exome Sequencing Project	African American	Sub	4406	T=0.9946	C=0.0054
1000Genomes_30x	Global	Study-wide	6404	T=0.9646	C=0.0354
1000Genomes_30x	African	Sub	1786	T=0.9983	C=0.0017
1000Genomes_30x	Europe	Sub	1266	T=0.9779	C=0.0221
1000Genomes_30x	South Asian	Sub	1202	T=0.9634	C=0.0366
1000Genomes_30x	East Asian	Sub	1170	T=0.8932	C=0.1068
1000Genomes_30x	American	Sub	980	T=0.972	C=0.028
1000Genomes	Global	Study-wide	5008	T=0.9615	C=0.0385
1000Genomes	African	Sub	1322	T=0.9985	C=0.0015
1000Genomes	East Asian	Sub	1008	T=0.8909	C=0.1091
1000Genomes	Europe	Sub	1006	T=0.9771	C=0.0229
1000Genomes	South Asian	Sub	978	T=0.961	C=0.039
1000Genomes	American	Sub	694	T=0.971	C=0.029
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9690	C=0.0310
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9811	C=0.0189
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9768	C=0.0232
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8324	C=0.1676
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	T=0.9744	C=0.0256
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.982	C=0.018
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=1.000	C=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.918	C=0.082
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.972	C=0.028
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	T=0.96	C=0.04
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.97	C=0.03
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.971	C=0.029
A Vietnamese Genetic Variation Database	Global	Study-wide	614	T=0.907	C=0.093
Northern Sweden	ACPOP	Study-wide	600	T=0.965	C=0.035
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.976	C=0.024
HapMap	Global	Study-wide	328	T=0.957	C=0.043
HapMap	African	Sub	120	T=1.000	C=0.000
HapMap	American	Sub	120	T=0.958	C=0.042
HapMap	Asian	Sub	88	T=0.90	C=0.10
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.951	C=0.049
Qatari	Global	Study-wide	216	T=0.977	C=0.023
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	T=1.00	C=0.00
SGDP_PRJ	Global	Study-wide	52	T=0.48	C=0.52
The Danish reference pan genome	Danish	Study-wide	40	T=0.95	C=0.05
Siberian	Global	Study-wide	6	T=0.5	C=0.5

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 14	NC_000014.9:g.64177487T>C
GRCh37.p13 chr 14	NC_000014.8:g.64644205T>C
SYNE2 RefSeqGene (LRG_872)	NG_011756.2:g.420589T>C

Gene: SYNE2, spectrin repeat containing nuclear envelope protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SYNE2 transcript variant 1	NM_015180.6:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant 5	NM_182914.3:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant 2	NM_182910.2:c.	N/A	Genic Upstream Transcript Variant
SYNE2 transcript variant 4	NM_182913.4:c.	N/A	Genic Upstream Transcript Variant
SYNE2 transcript variant X12	XM_005267454.2:c.17556+4T… XM_005267454.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X13	XM_005267456.2:c.17556+4T… XM_005267456.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X17	XM_005267457.2:c.17556+4T… XM_005267457.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X18	XM_005267458.2:c.17556+4T… XM_005267458.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X23	XM_005267459.2:c.17556+4T… XM_005267459.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X1	XM_011536574.2:c.17556+4T… XM_011536574.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X5	XM_011536575.3:c.17556+4T… XM_011536575.3:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X4	XM_011536576.3:c.17556+4T… XM_011536576.3:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X2	XM_011536577.3:c.17556+4T… XM_011536577.3:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X10	XM_011536578.2:c.17556+4T… XM_011536578.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X11	XM_011536579.2:c.17556+4T… XM_011536579.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X14	XM_011536580.3:c.17556+4T… XM_011536580.3:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X15	XM_011536581.2:c.17556+4T… XM_011536581.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X22	XM_011536582.2:c.17439+4T… XM_011536582.2:c.17439+4T>C	N/A	Intron Variant
SYNE2 transcript variant X6	XM_017021101.2:c.17556+4T… XM_017021101.2:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X3	XM_047431149.1:c.17556+4T… XM_047431149.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X7	XM_047431150.1:c.17556+4T… XM_047431150.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X8	XM_047431151.1:c.17556+4T… XM_047431151.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X9	XM_047431152.1:c.17556+4T… XM_047431152.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X16	XM_047431153.1:c.17556+4T… XM_047431153.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X19	XM_047431154.1:c.17556+4T… XM_047431154.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X20	XM_047431155.1:c.17556+4T… XM_047431155.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X21	XM_047431156.1:c.17556+4T… XM_047431156.1:c.17556+4T>C	N/A	Intron Variant
SYNE2 transcript variant X24	XM_047431157.1:c.17439+4T… XM_047431157.1:c.17439+4T>C	N/A	Intron Variant
SYNE2 transcript variant X25	XM_047431158.1:c.17439+4T… XM_047431158.1:c.17439+4T>C	N/A	Intron Variant
SYNE2 transcript variant X28	XM_047431160.1:c.5232+4T>C	N/A	Intron Variant
SYNE2 transcript variant X29	XM_017021103.3:c.	N/A	Genic Upstream Transcript Variant
SYNE2 transcript variant X30	XM_017021104.3:c.	N/A	Genic Upstream Transcript Variant
SYNE2 transcript variant X31	XM_047431161.1:c.	N/A	Genic Upstream Transcript Variant
SYNE2 transcript variant X27	XM_011536584.3:c.	N/A	Genic Downstream Transcript Variant
SYNE2 transcript variant X26	XM_047431159.1:c.	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.

Allele: C (allele ID: 135933 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000118527.8	not specified	Benign-Likely-Benign
RCV000542937.10	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Benign
RCV001610424.4	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	C
GRCh38.p14 chr 14	NC_000014.9:g.64177487=	NC_000014.9:g.64177487T>C
GRCh37.p13 chr 14	NC_000014.8:g.64644205=	NC_000014.8:g.64644205T>C
SYNE2 RefSeqGene (LRG_872)	NG_011756.2:g.420589=	NG_011756.2:g.420589T>C
SYNE2 transcript variant 1	NM_015180.4:c.17556+4=	NM_015180.4:c.17556+4T>C
SYNE2 transcript variant 1	NM_015180.6:c.17556+4=	NM_015180.6:c.17556+4T>C
SYNE2 transcript variant 5	NM_182914.2:c.17556+4=	NM_182914.2:c.17556+4T>C
SYNE2 transcript variant 5	NM_182914.3:c.17556+4=	NM_182914.3:c.17556+4T>C
SYNE2 transcript variant X7	XM_005267454.1:c.17556+4=	XM_005267454.1:c.17556+4T>C
SYNE2 transcript variant X12	XM_005267454.2:c.17556+4=	XM_005267454.2:c.17556+4T>C
SYNE2 transcript variant X2	XM_005267455.1:c.17556+4=	XM_005267455.1:c.17556+4T>C
SYNE2 transcript variant X9	XM_005267456.1:c.17556+4=	XM_005267456.1:c.17556+4T>C
SYNE2 transcript variant X13	XM_005267456.2:c.17556+4=	XM_005267456.2:c.17556+4T>C
SYNE2 transcript variant X13	XM_005267457.1:c.17556+4=	XM_005267457.1:c.17556+4T>C
SYNE2 transcript variant X17	XM_005267457.2:c.17556+4=	XM_005267457.2:c.17556+4T>C
SYNE2 transcript variant X14	XM_005267458.1:c.17556+4=	XM_005267458.1:c.17556+4T>C
SYNE2 transcript variant X18	XM_005267458.2:c.17556+4=	XM_005267458.2:c.17556+4T>C
SYNE2 transcript variant X16	XM_005267459.1:c.17556+4=	XM_005267459.1:c.17556+4T>C
SYNE2 transcript variant X23	XM_005267459.2:c.17556+4=	XM_005267459.2:c.17556+4T>C
SYNE2 transcript variant X7	XM_005267460.1:c.17439+4=	XM_005267460.1:c.17439+4T>C
SYNE2 transcript variant X8	XM_005267461.1:c.4959+4=	XM_005267461.1:c.4959+4T>C
SYNE2 transcript variant X1	XM_011536574.2:c.17556+4=	XM_011536574.2:c.17556+4T>C
SYNE2 transcript variant X5	XM_011536575.3:c.17556+4=	XM_011536575.3:c.17556+4T>C
SYNE2 transcript variant X4	XM_011536576.3:c.17556+4=	XM_011536576.3:c.17556+4T>C
SYNE2 transcript variant X2	XM_011536577.3:c.17556+4=	XM_011536577.3:c.17556+4T>C
SYNE2 transcript variant X10	XM_011536578.2:c.17556+4=	XM_011536578.2:c.17556+4T>C
SYNE2 transcript variant X11	XM_011536579.2:c.17556+4=	XM_011536579.2:c.17556+4T>C
SYNE2 transcript variant X14	XM_011536580.3:c.17556+4=	XM_011536580.3:c.17556+4T>C
SYNE2 transcript variant X15	XM_011536581.2:c.17556+4=	XM_011536581.2:c.17556+4T>C
SYNE2 transcript variant X22	XM_011536582.2:c.17439+4=	XM_011536582.2:c.17439+4T>C
SYNE2 transcript variant X6	XM_017021101.2:c.17556+4=	XM_017021101.2:c.17556+4T>C
SYNE2 transcript variant X3	XM_047431149.1:c.17556+4=	XM_047431149.1:c.17556+4T>C
SYNE2 transcript variant X7	XM_047431150.1:c.17556+4=	XM_047431150.1:c.17556+4T>C
SYNE2 transcript variant X8	XM_047431151.1:c.17556+4=	XM_047431151.1:c.17556+4T>C
SYNE2 transcript variant X9	XM_047431152.1:c.17556+4=	XM_047431152.1:c.17556+4T>C
SYNE2 transcript variant X16	XM_047431153.1:c.17556+4=	XM_047431153.1:c.17556+4T>C
SYNE2 transcript variant X19	XM_047431154.1:c.17556+4=	XM_047431154.1:c.17556+4T>C
SYNE2 transcript variant X20	XM_047431155.1:c.17556+4=	XM_047431155.1:c.17556+4T>C
SYNE2 transcript variant X21	XM_047431156.1:c.17556+4=	XM_047431156.1:c.17556+4T>C
SYNE2 transcript variant X24	XM_047431157.1:c.17439+4=	XM_047431157.1:c.17439+4T>C
SYNE2 transcript variant X25	XM_047431158.1:c.17439+4=	XM_047431158.1:c.17439+4T>C
SYNE2 transcript variant X28	XM_047431160.1:c.5232+4=	XM_047431160.1:c.5232+4T>C

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#.

74 SubSNP, 26 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3241719	Sep 28, 2001 (100)
2	SI_EXO	ss69379012	May 17, 2007 (127)
3	1000GENOMES	ss108404223	Jan 23, 2009 (130)
4	ILLUMINA	ss161049836	Dec 01, 2009 (131)
5	1000GENOMES	ss236575277	Jul 15, 2010 (132)
6	1000GENOMES	ss243003196	Jul 15, 2010 (132)
7	GMI	ss282037723	May 04, 2012 (137)
8	ILLUMINA	ss479178304	Sep 08, 2015 (146)
9	1000GENOMES	ss491070409	May 04, 2012 (137)
10	CLINSEQ_SNP	ss491688723	May 04, 2012 (137)
11	ILLUMINA	ss533269317	Sep 08, 2015 (146)
12	SSMP	ss659830720	Apr 25, 2013 (138)
13	NHLBI-ESP	ss713185225	Apr 25, 2013 (138)
14	EVA-GONL	ss991237115	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1067546319	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1079725309	Aug 21, 2014 (142)
17	1000GENOMES	ss1351353744	Aug 21, 2014 (142)
18	HAMMER_LAB	ss1397683105	Sep 08, 2015 (146)
19	CLINVAR	ss1457615496	Nov 23, 2014 (142)
20	EVA_GENOME_DK	ss1577309144	Apr 01, 2015 (144)
21	EVA_FINRISK	ss1584090215	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1631921210	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1674915243	Apr 01, 2015 (144)
24	EVA_EXAC	ss1691515885	Apr 01, 2015 (144)
25	EVA_DECODE	ss1695240990	Apr 01, 2015 (144)
26	EVA_MGP	ss1711374817	Apr 01, 2015 (144)
27	WEILL_CORNELL_DGM	ss1934612084	Feb 12, 2016 (147)
28	JJLAB	ss2028085116	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2156461307	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2202705162	Dec 20, 2016 (150)
31	GRF	ss2700889470	Nov 08, 2017 (151)
32	GNOMAD	ss2740769071	Nov 08, 2017 (151)
33	GNOMAD	ss2749152990	Nov 08, 2017 (151)
34	GNOMAD	ss2928690917	Nov 08, 2017 (151)
35	SWEGEN	ss3012342354	Nov 08, 2017 (151)
36	ILLUMINA	ss3021576880	Nov 08, 2017 (151)
37	ILLUMINA	ss3627239168	Oct 12, 2018 (152)
38	ILLUMINA	ss3636270417	Oct 12, 2018 (152)
39	OMUKHERJEE_ADBS	ss3646461312	Oct 12, 2018 (152)
40	ILLUMINA	ss3651970153	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3679596583	Jul 13, 2019 (153)
42	EVA_DECODE	ss3696851149	Jul 13, 2019 (153)
43	ILLUMINA	ss3725455107	Jul 13, 2019 (153)
44	ACPOP	ss3740458250	Jul 13, 2019 (153)
45	EVA	ss3752428622	Jul 13, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3817761451	Jul 13, 2019 (153)
47	EVA	ss3824857062	Apr 27, 2020 (154)
48	EVA	ss3825847308	Apr 27, 2020 (154)
49	SGDP_PRJ	ss3881691289	Apr 27, 2020 (154)
50	KRGDB	ss3930723164	Apr 27, 2020 (154)
51	EVA	ss3985684904	Apr 27, 2021 (155)
52	EVA	ss3986064623	Apr 27, 2021 (155)
53	EVA	ss3986621419	Apr 27, 2021 (155)
54	TOPMED	ss4973683552	Apr 27, 2021 (155)
55	TOMMO_GENOMICS	ss5213625896	Apr 27, 2021 (155)
56	EVA	ss5237541013	Apr 27, 2021 (155)
57	EVA	ss5237662652	Oct 17, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5296529449	Oct 17, 2022 (156)
59	TRAN_CS_UWATERLOO	ss5314439171	Oct 17, 2022 (156)
60	EVA	ss5415823114	Oct 17, 2022 (156)
61	HUGCELL_USP	ss5490541913	Oct 17, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5596967145	Oct 17, 2022 (156)
63	SANFORD_IMAGENETICS	ss5624346003	Oct 17, 2022 (156)
64	SANFORD_IMAGENETICS	ss5656394999	Oct 17, 2022 (156)
65	TOMMO_GENOMICS	ss5766541603	Oct 17, 2022 (156)
66	YY_MCH	ss5814828404	Oct 17, 2022 (156)
67	EVA	ss5841228511	Oct 17, 2022 (156)
68	EVA	ss5847438735	Oct 17, 2022 (156)
69	EVA	ss5847723374	Oct 17, 2022 (156)
70	EVA	ss5848385721	Oct 17, 2022 (156)
71	EVA	ss5851070547	Oct 17, 2022 (156)
72	EVA	ss5901691810	Oct 17, 2022 (156)
73	EVA	ss5947834357	Oct 17, 2022 (156)
74	EVA	ss5979443386	Oct 17, 2022 (156)
75	1000Genomes	NC_000014.8 - 64644205	Oct 12, 2018 (152)
76	1000Genomes_30x	NC_000014.9 - 64177487	Oct 17, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 64644205	Oct 12, 2018 (152)
78	Genome-wide autozygosity in Daghestan	NC_000014.7 - 63713958	Apr 27, 2020 (154)
79	Genetic variation in the Estonian population	NC_000014.8 - 64644205	Oct 12, 2018 (152)
80	ExAC	NC_000014.8 - 64644205	Oct 12, 2018 (152)
81	FINRISK	NC_000014.8 - 64644205	Apr 27, 2020 (154)
82	The Danish reference pan genome	NC_000014.8 - 64644205	Apr 27, 2020 (154)
83	gnomAD - Genomes	NC_000014.9 - 64177487	Apr 27, 2021 (155)
84	gnomAD - Exomes	NC_000014.8 - 64644205	Jul 13, 2019 (153)
85	GO Exome Sequencing Project	NC_000014.8 - 64644205	Oct 12, 2018 (152)
86	Genome of the Netherlands Release 5	NC_000014.8 - 64644205	Apr 27, 2020 (154)
87	HapMap	NC_000014.9 - 64177487	Apr 27, 2020 (154)
88	KOREAN population from KRGDB	NC_000014.8 - 64644205	Apr 27, 2020 (154)
89	Medical Genome Project healthy controls from Spanish population	NC_000014.8 - 64644205	Apr 27, 2020 (154)
90	Northern Sweden	NC_000014.8 - 64644205	Jul 13, 2019 (153)
91	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000014.8 - 64644205	Apr 27, 2021 (155)
92	Qatari	NC_000014.8 - 64644205	Apr 27, 2020 (154)
93	SGDP_PRJ	NC_000014.8 - 64644205	Apr 27, 2020 (154)
94	Siberian	NC_000014.8 - 64644205	Apr 27, 2020 (154)
95	8.3KJPN	NC_000014.8 - 64644205	Apr 27, 2021 (155)
96	14KJPN	NC_000014.9 - 64177487	Oct 17, 2022 (156)
97	TopMed	NC_000014.9 - 64177487	Apr 27, 2021 (155)
98	UK 10K study - Twins	NC_000014.8 - 64644205	Oct 12, 2018 (152)
99	A Vietnamese Genetic Variation Database	NC_000014.8 - 64644205	Jul 13, 2019 (153)
100	ALFA	NC_000014.9 - 64177487	Apr 27, 2021 (155)
101	ClinVar	RCV000118527.8	Oct 17, 2022 (156)
102	ClinVar	RCV000542937.10	Oct 17, 2022 (156)
103	ClinVar	RCV001610424.4	Oct 17, 2022 (156)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
153430, ss108404223, ss161049836, ss282037723, ss491688723, ss1397683105, ss1695240990	NC_000014.7:63713957:T:C	NC_000014.9:64177486:T:C	(self)
64347688, 35748528, 25334831, 1864046, 86676, 3639649, 10021942, 1314394, 15965847, 37900558, 490577, 13743115, 910831, 16654014, 33708269, 8977661, 71595203, 35748528, 7953758, ss236575277, ss243003196, ss479178304, ss491070409, ss533269317, ss659830720, ss713185225, ss991237115, ss1067546319, ss1079725309, ss1351353744, ss1577309144, ss1584090215, ss1631921210, ss1674915243, ss1691515885, ss1711374817, ss1934612084, ss2028085116, ss2156461307, ss2700889470, ss2740769071, ss2749152990, ss2928690917, ss3012342354, ss3021576880, ss3627239168, ss3636270417, ss3646461312, ss3651970153, ss3679596583, ss3740458250, ss3752428622, ss3824857062, ss3825847308, ss3881691289, ss3930723164, ss3985684904, ss3986064623, ss3986621419, ss5213625896, ss5237541013, ss5415823114, ss5624346003, ss5656394999, ss5841228511, ss5847438735, ss5847723374, ss5848385721, ss5947834357, ss5979443386	NC_000014.8:64644204:T:C	NC_000014.9:64177486:T:C	(self)
RCV000118527.8, RCV000542937.10, RCV001610424.4, 84493080, 453711531, 1162712, 100378707, 189229211, 12870365252, ss1457615496, ss2202705162, ss3696851149, ss3725455107, ss3817761451, ss4973683552, ss5237662652, ss5296529449, ss5314439171, ss5490541913, ss5596967145, ss5766541603, ss5814828404, ss5851070547, ss5901691810	NC_000014.9:64177486:T:C	NC_000014.9:64177486:T:C	(self)
ss3241719, ss69379012	NT_026437.12:45644204:T:C	NC_000014.9:64177486:T:C	(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 rs2297301

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2297301