Name: rs2726807
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.

rs2726807

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:182216245 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.370063 (110412/298360, ALFA)
T=0.435570 (115291/264690, TOPMED)
T=0.429523 (60147/140032, GnomAD) (+ 21 more)
T=0.48661 (38297/78702, PAGE_STUDY)
C=0.42123 (11903/28258, 14KJPN)
C=0.42440 (7113/16760, 8.3KJPN)
T=0.4809 (3080/6404, 1000G_30x)
T=0.4876 (2442/5008, 1000G)
T=0.4393 (1968/4480, Estonian)
T=0.3656 (1409/3854, ALSPAC)
T=0.3514 (1303/3708, TWINSUK)
C=0.3696 (1083/2930, KOREAN)
C=0.4966 (1035/2084, HGDP_Stanford)
C=0.4545 (859/1890, HapMap)
C=0.3362 (616/1832, Korea1K)
T=0.355 (354/998, GoNL)
C=0.340 (268/788, PRJEB37584)
T=0.353 (212/600, NorthernSweden)
T=0.332 (125/376, SGDP_PRJ)
T=0.426 (92/216, Qatari)
C=0.374 (80/214, Vietnamese)
T=0.29 (16/56, Ancient Sardinia)
T=0.38 (15/40, GENOME_DK)
T=0.25 (8/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TENM3 : Intron Variant
LOC105377572 : 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	303396	T=0.370681	C=0.629319
European	Sub	266594	T=0.357127	C=0.642873
African	Sub	9512	T=0.5385	C=0.4615
African Others	Sub	370	T=0.573	C=0.427
African American	Sub	9142	T=0.5371	C=0.4629
Asian	Sub	3934	T=0.6373	C=0.3627
East Asian	Sub	3188	T=0.6405	C=0.3595
Other Asian	Sub	746	T=0.623	C=0.377
Latin American 1	Sub	1132	T=0.4496	C=0.5504
Latin American 2	Sub	7216	T=0.3947	C=0.6053
South Asian	Sub	5222	T=0.4420	C=0.5580
Other	Sub	9786	T=0.4048	C=0.5952

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	298360	T=0.370063	C=0.629937
Allele Frequency Aggregator	European	Sub	263500	T=0.357226	C=0.642774
Allele Frequency Aggregator	Other	Sub	8986	T=0.4047	C=0.5953
Allele Frequency Aggregator	African	Sub	8370	T=0.5345	C=0.4655
Allele Frequency Aggregator	Latin American 2	Sub	7216	T=0.3947	C=0.6053
Allele Frequency Aggregator	South Asian	Sub	5222	T=0.4420	C=0.5580
Allele Frequency Aggregator	Asian	Sub	3934	T=0.6373	C=0.3627
Allele Frequency Aggregator	Latin American 1	Sub	1132	T=0.4496	C=0.5504
TopMed	Global	Study-wide	264690	T=0.435570	C=0.564430
gnomAD - Genomes	Global	Study-wide	140032	T=0.429523	C=0.570477
gnomAD - Genomes	European	Sub	75876	T=0.36745	C=0.63255
gnomAD - Genomes	African	Sub	41930	T=0.54758	C=0.45242
gnomAD - Genomes	American	Sub	13636	T=0.37775	C=0.62225
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.3952	C=0.6048
gnomAD - Genomes	East Asian	Sub	3122	T=0.6284	C=0.3716
gnomAD - Genomes	Other	Sub	2148	T=0.4101	C=0.5899
The PAGE Study	Global	Study-wide	78702	T=0.48661	C=0.51339
The PAGE Study	AfricanAmerican	Sub	32516	T=0.53890	C=0.46110
The PAGE Study	Mexican	Sub	10810	T=0.40324	C=0.59676
The PAGE Study	Asian	Sub	8318	T=0.5818	C=0.4182
The PAGE Study	PuertoRican	Sub	7918	T=0.4187	C=0.5813
The PAGE Study	NativeHawaiian	Sub	4534	T=0.5593	C=0.4407
The PAGE Study	Cuban	Sub	4230	T=0.3612	C=0.6388
The PAGE Study	Dominican	Sub	3828	T=0.4224	C=0.5776
The PAGE Study	CentralAmerican	Sub	2450	T=0.4061	C=0.5939
The PAGE Study	SouthAmerican	Sub	1982	T=0.3613	C=0.6387
The PAGE Study	NativeAmerican	Sub	1260	T=0.3913	C=0.6087
The PAGE Study	SouthAsian	Sub	856	T=0.439	C=0.561
14KJPN	JAPANESE	Study-wide	28258	T=0.57877	C=0.42123
8.3KJPN	JAPANESE	Study-wide	16760	T=0.57560	C=0.42440
1000Genomes_30x	Global	Study-wide	6404	T=0.4809	C=0.5191
1000Genomes_30x	African	Sub	1786	T=0.5745	C=0.4255
1000Genomes_30x	Europe	Sub	1266	T=0.3491	C=0.6509
1000Genomes_30x	South Asian	Sub	1202	T=0.4443	C=0.5557
1000Genomes_30x	East Asian	Sub	1170	T=0.5940	C=0.4060
1000Genomes_30x	American	Sub	980	T=0.391	C=0.609
1000Genomes	Global	Study-wide	5008	T=0.4876	C=0.5124
1000Genomes	African	Sub	1322	T=0.5802	C=0.4198
1000Genomes	East Asian	Sub	1008	T=0.5972	C=0.4028
1000Genomes	Europe	Sub	1006	T=0.3579	C=0.6421
1000Genomes	South Asian	Sub	978	T=0.454	C=0.546
1000Genomes	American	Sub	694	T=0.388	C=0.612
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4393	C=0.5607
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3656	C=0.6344
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3514	C=0.6486
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6304	A=0.0000, C=0.3696, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.5034	C=0.4966
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.683	C=0.317
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.411	C=0.589
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.440	C=0.560
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.347	C=0.653
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.591	C=0.409
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.407	C=0.593
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.86	C=0.14
HapMap	Global	Study-wide	1890	T=0.5455	C=0.4545
HapMap	American	Sub	770	T=0.494	C=0.506
HapMap	African	Sub	690	T=0.619	C=0.381
HapMap	Asian	Sub	254	T=0.614	C=0.386
HapMap	Europe	Sub	176	T=0.386	C=0.614
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6638	C=0.3362
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.355	C=0.645
CNV burdens in cranial meningiomas	Global	Study-wide	788	T=0.660	C=0.340
CNV burdens in cranial meningiomas	CRM	Sub	788	T=0.660	C=0.340
Northern Sweden	ACPOP	Study-wide	600	T=0.353	C=0.647
SGDP_PRJ	Global	Study-wide	376	T=0.332	C=0.668
Qatari	Global	Study-wide	216	T=0.426	C=0.574
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.626	C=0.374
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	T=0.29	C=0.71
The Danish reference pan genome	Danish	Study-wide	40	T=0.38	C=0.62
Siberian	Global	Study-wide	32	T=0.25	C=0.75

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 4	NC_000004.12:g.182216245T>A
GRCh38.p14 chr 4	NC_000004.12:g.182216245T>C
GRCh38.p14 chr 4	NC_000004.12:g.182216245T>G
GRCh37.p13 chr 4	NC_000004.11:g.183137398T>A
GRCh37.p13 chr 4	NC_000004.11:g.183137398T>C
GRCh37.p13 chr 4	NC_000004.11:g.183137398T>G

Gene: TENM3, teneurin transmembrane protein 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TENM3 transcript variant 1	NM_001080477.4:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X1	XM_017008385.2:c.-75-1077… XM_017008385.2:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X2	XM_017008386.2:c.-76+7208… XM_017008386.2:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X3	XM_017008387.3:c.-76+7149… XM_017008387.3:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X6	XM_017008389.2:c.-75-1077… XM_017008389.2:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X7	XM_017008390.2:c.-75-1077… XM_017008390.2:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X8	XM_017008391.2:c.-75-1077… XM_017008391.2:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X11	XM_017008394.2:c.-75-1077… XM_017008394.2:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X4	XM_047415933.1:c.-75-1077… XM_047415933.1:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X9	XM_047415934.1:c.-76+7149… XM_047415934.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X10	XM_047415935.1:c.-76+7208… XM_047415935.1:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X11	XM_047415936.1:c.-76+7149… XM_047415936.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X9	XM_047415937.1:c.-76+7208… XM_047415937.1:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X13	XM_047415938.1:c.-76+7149… XM_047415938.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X14	XM_047415939.1:c.-76+7208… XM_047415939.1:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X16	XM_047415941.1:c.-76+7149… XM_047415941.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X17	XM_047415942.1:c.-76+7208… XM_047415942.1:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X19	XM_047415943.1:c.-76+7149… XM_047415943.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X12	XM_047415944.1:c.-75-1077… XM_047415944.1:c.-75-107701T>A	N/A	Intron Variant
TENM3 transcript variant X21	XM_047415945.1:c.-76+7149… XM_047415945.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X22	XM_047415946.1:c.-76+7208… XM_047415946.1:c.-76+72084T>A	N/A	Intron Variant
TENM3 transcript variant X23	XM_047415947.1:c.-76+7149… XM_047415947.1:c.-76+71491T>A	N/A	Intron Variant
TENM3 transcript variant X5	XM_017008388.2:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X13	XM_017008395.2:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X26	XM_017008396.2:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X10	XM_047415940.1:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X14	XM_047415948.1:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X27	XM_047415949.1:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X28	XM_047415950.1:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X29	XM_047415951.1:c.	N/A	Genic Upstream Transcript Variant
TENM3 transcript variant X30	XM_047415952.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC105377572, uncharacterized LOC105377572 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377572 transcript variant X1	XR_007058400.1:n.	N/A	Intron Variant
LOC105377572 transcript variant X2	XR_007058401.1:n.	N/A	Intron 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	T=	A	C	G
GRCh38.p14 chr 4	NC_000004.12:g.182216245=	NC_000004.12:g.182216245T>A	NC_000004.12:g.182216245T>C	NC_000004.12:g.182216245T>G
GRCh37.p13 chr 4	NC_000004.11:g.183137398=	NC_000004.11:g.183137398T>A	NC_000004.11:g.183137398T>C	NC_000004.11:g.183137398T>G
TENM3 transcript variant X1	XM_005263119.1:c.-76+72084=	XM_005263119.1:c.-76+72084T>A	XM_005263119.1:c.-76+72084T>C	XM_005263119.1:c.-76+72084T>G
TENM3 transcript variant X1	XM_017008385.2:c.-75-107701=	XM_017008385.2:c.-75-107701T>A	XM_017008385.2:c.-75-107701T>C	XM_017008385.2:c.-75-107701T>G
TENM3 transcript variant X2	XM_017008386.2:c.-76+72084=	XM_017008386.2:c.-76+72084T>A	XM_017008386.2:c.-76+72084T>C	XM_017008386.2:c.-76+72084T>G
TENM3 transcript variant X3	XM_017008387.3:c.-76+71491=	XM_017008387.3:c.-76+71491T>A	XM_017008387.3:c.-76+71491T>C	XM_017008387.3:c.-76+71491T>G
TENM3 transcript variant X6	XM_017008389.2:c.-75-107701=	XM_017008389.2:c.-75-107701T>A	XM_017008389.2:c.-75-107701T>C	XM_017008389.2:c.-75-107701T>G
TENM3 transcript variant X7	XM_017008390.2:c.-75-107701=	XM_017008390.2:c.-75-107701T>A	XM_017008390.2:c.-75-107701T>C	XM_017008390.2:c.-75-107701T>G
TENM3 transcript variant X8	XM_017008391.2:c.-75-107701=	XM_017008391.2:c.-75-107701T>A	XM_017008391.2:c.-75-107701T>C	XM_017008391.2:c.-75-107701T>G
TENM3 transcript variant X11	XM_017008394.2:c.-75-107701=	XM_017008394.2:c.-75-107701T>A	XM_017008394.2:c.-75-107701T>C	XM_017008394.2:c.-75-107701T>G
TENM3 transcript variant X4	XM_047415933.1:c.-75-107701=	XM_047415933.1:c.-75-107701T>A	XM_047415933.1:c.-75-107701T>C	XM_047415933.1:c.-75-107701T>G
TENM3 transcript variant X9	XM_047415934.1:c.-76+71491=	XM_047415934.1:c.-76+71491T>A	XM_047415934.1:c.-76+71491T>C	XM_047415934.1:c.-76+71491T>G
TENM3 transcript variant X10	XM_047415935.1:c.-76+72084=	XM_047415935.1:c.-76+72084T>A	XM_047415935.1:c.-76+72084T>C	XM_047415935.1:c.-76+72084T>G
TENM3 transcript variant X11	XM_047415936.1:c.-76+71491=	XM_047415936.1:c.-76+71491T>A	XM_047415936.1:c.-76+71491T>C	XM_047415936.1:c.-76+71491T>G
TENM3 transcript variant X9	XM_047415937.1:c.-76+72084=	XM_047415937.1:c.-76+72084T>A	XM_047415937.1:c.-76+72084T>C	XM_047415937.1:c.-76+72084T>G
TENM3 transcript variant X13	XM_047415938.1:c.-76+71491=	XM_047415938.1:c.-76+71491T>A	XM_047415938.1:c.-76+71491T>C	XM_047415938.1:c.-76+71491T>G
TENM3 transcript variant X14	XM_047415939.1:c.-76+72084=	XM_047415939.1:c.-76+72084T>A	XM_047415939.1:c.-76+72084T>C	XM_047415939.1:c.-76+72084T>G
TENM3 transcript variant X16	XM_047415941.1:c.-76+71491=	XM_047415941.1:c.-76+71491T>A	XM_047415941.1:c.-76+71491T>C	XM_047415941.1:c.-76+71491T>G
TENM3 transcript variant X17	XM_047415942.1:c.-76+72084=	XM_047415942.1:c.-76+72084T>A	XM_047415942.1:c.-76+72084T>C	XM_047415942.1:c.-76+72084T>G
TENM3 transcript variant X19	XM_047415943.1:c.-76+71491=	XM_047415943.1:c.-76+71491T>A	XM_047415943.1:c.-76+71491T>C	XM_047415943.1:c.-76+71491T>G
TENM3 transcript variant X12	XM_047415944.1:c.-75-107701=	XM_047415944.1:c.-75-107701T>A	XM_047415944.1:c.-75-107701T>C	XM_047415944.1:c.-75-107701T>G
TENM3 transcript variant X21	XM_047415945.1:c.-76+71491=	XM_047415945.1:c.-76+71491T>A	XM_047415945.1:c.-76+71491T>C	XM_047415945.1:c.-76+71491T>G
TENM3 transcript variant X22	XM_047415946.1:c.-76+72084=	XM_047415946.1:c.-76+72084T>A	XM_047415946.1:c.-76+72084T>C	XM_047415946.1:c.-76+72084T>G
TENM3 transcript variant X23	XM_047415947.1:c.-76+71491=	XM_047415947.1:c.-76+71491T>A	XM_047415947.1:c.-76+71491T>C	XM_047415947.1:c.-76+71491T>G

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#.

138 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3850270	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss17020440	Feb 27, 2004 (120)
3	PERLEGEN	ss23907301	Sep 20, 2004 (123)
4	ABI	ss44508263	Mar 14, 2006 (126)
5	ILLUMINA	ss66646602	Nov 29, 2006 (127)
6	ILLUMINA	ss67270188	Nov 29, 2006 (127)
7	ILLUMINA	ss67670693	Nov 29, 2006 (127)
8	ILLUMINA	ss70748635	May 24, 2008 (130)
9	ILLUMINA	ss71320700	May 16, 2007 (127)
10	ILLUMINA	ss75497250	Dec 07, 2007 (129)
11	HGSV	ss77577180	Dec 07, 2007 (129)
12	ILLUMINA	ss79145002	Dec 14, 2007 (130)
13	KRIBB_YJKIM	ss84073629	Dec 14, 2007 (130)
14	BCMHGSC_JDW	ss92919093	Mar 24, 2008 (129)
15	1000GENOMES	ss108661583	Jan 23, 2009 (130)
16	1000GENOMES	ss111155402	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss117327349	Feb 14, 2009 (130)
18	ILLUMINA	ss122093876	Dec 01, 2009 (131)
19	ENSEMBL	ss142638685	Dec 01, 2009 (131)
20	ILLUMINA	ss154230759	Dec 01, 2009 (131)
21	GMI	ss154737945	Dec 01, 2009 (131)
22	ILLUMINA	ss159407277	Dec 01, 2009 (131)
23	ILLUMINA	ss160573768	Dec 01, 2009 (131)
24	ENSEMBL	ss161526954	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss162877887	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss165298606	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss167487323	Jul 04, 2010 (132)
28	ILLUMINA	ss171358335	Jul 04, 2010 (132)
29	ILLUMINA	ss173444380	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss206258293	Jul 04, 2010 (132)
31	1000GENOMES	ss221421019	Jul 14, 2010 (132)
32	1000GENOMES	ss232754921	Jul 14, 2010 (132)
33	1000GENOMES	ss239968944	Jul 15, 2010 (132)
34	GMI	ss278087626	May 04, 2012 (137)
35	GMI	ss285080024	Apr 25, 2013 (138)
36	PJP	ss293274344	May 09, 2011 (134)
37	ILLUMINA	ss480647636	May 04, 2012 (137)
38	ILLUMINA	ss480662962	May 04, 2012 (137)
39	ILLUMINA	ss481509235	Sep 08, 2015 (146)
40	ILLUMINA	ss485118784	May 04, 2012 (137)
41	ILLUMINA	ss537120723	Sep 08, 2015 (146)
42	TISHKOFF	ss558092294	Apr 25, 2013 (138)
43	SSMP	ss651929279	Apr 25, 2013 (138)
44	ILLUMINA	ss778877354	Aug 21, 2014 (142)
45	ILLUMINA	ss783005725	Aug 21, 2014 (142)
46	ILLUMINA	ss783966110	Aug 21, 2014 (142)
47	ILLUMINA	ss825475520	Apr 01, 2015 (144)
48	ILLUMINA	ss832262965	Apr 01, 2015 (144)
49	ILLUMINA	ss832918968	Aug 21, 2014 (142)
50	ILLUMINA	ss833509798	Aug 21, 2014 (142)
51	ILLUMINA	ss834338321	Aug 21, 2014 (142)
52	EVA-GONL	ss981081200	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1072266677	Aug 21, 2014 (142)
54	1000GENOMES	ss1313307645	Aug 21, 2014 (142)
55	DDI	ss1430181400	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1580940637	Apr 01, 2015 (144)
57	EVA_DECODE	ss1590600998	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1611963454	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1654957487	Apr 01, 2015 (144)
60	EVA_SVP	ss1712731794	Apr 01, 2015 (144)
61	ILLUMINA	ss1752512384	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1802737105	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1924325560	Feb 12, 2016 (147)
64	ILLUMINA	ss1946134406	Feb 12, 2016 (147)
65	ILLUMINA	ss1958747367	Feb 12, 2016 (147)
66	GENOMED	ss1969969419	Jul 19, 2016 (147)
67	JJLAB	ss2022757497	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2150891383	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2270219446	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2625871996	Nov 08, 2017 (151)
71	ILLUMINA	ss2634222378	Nov 08, 2017 (151)
72	GRF	ss2706398423	Nov 08, 2017 (151)
73	ILLUMINA	ss2711023978	Nov 08, 2017 (151)
74	GNOMAD	ss2819492523	Nov 08, 2017 (151)
75	AFFY	ss2985939245	Nov 08, 2017 (151)
76	SWEGEN	ss2996165899	Nov 08, 2017 (151)
77	ILLUMINA	ss3022445843	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3025158730	Nov 08, 2017 (151)
79	CSHL	ss3346145340	Nov 08, 2017 (151)
80	ILLUMINA	ss3625862266	Oct 12, 2018 (152)
81	ILLUMINA	ss3629140944	Oct 12, 2018 (152)
82	ILLUMINA	ss3632152745	Oct 12, 2018 (152)
83	ILLUMINA	ss3633359791	Oct 12, 2018 (152)
84	ILLUMINA	ss3634079686	Oct 12, 2018 (152)
85	ILLUMINA	ss3634983758	Oct 12, 2018 (152)
86	ILLUMINA	ss3635762040	Oct 12, 2018 (152)
87	ILLUMINA	ss3636692423	Oct 12, 2018 (152)
88	ILLUMINA	ss3637514631	Oct 12, 2018 (152)
89	ILLUMINA	ss3638529864	Oct 12, 2018 (152)
90	ILLUMINA	ss3639267317	Oct 12, 2018 (152)
91	ILLUMINA	ss3639656139	Oct 12, 2018 (152)
92	ILLUMINA	ss3640691051	Oct 12, 2018 (152)
93	ILLUMINA	ss3641171467	Oct 12, 2018 (152)
94	ILLUMINA	ss3641468437	Oct 12, 2018 (152)
95	ILLUMINA	ss3643477756	Oct 12, 2018 (152)
96	ILLUMINA	ss3644867271	Oct 12, 2018 (152)
97	ILLUMINA	ss3652937235	Oct 12, 2018 (152)
98	EGCUT_WGS	ss3664086016	Jul 13, 2019 (153)
99	EVA_DECODE	ss3713799075	Jul 13, 2019 (153)
100	ILLUMINA	ss3726198487	Jul 13, 2019 (153)
101	ACPOP	ss3731943923	Jul 13, 2019 (153)
102	ILLUMINA	ss3744246415	Jul 13, 2019 (153)
103	ILLUMINA	ss3745283954	Jul 13, 2019 (153)
104	EVA	ss3762870563	Jul 13, 2019 (153)
105	PAGE_CC	ss3771174680	Jul 13, 2019 (153)
106	ILLUMINA	ss3772778363	Jul 13, 2019 (153)
107	PACBIO	ss3784972249	Jul 13, 2019 (153)
108	PACBIO	ss3790394011	Jul 13, 2019 (153)
109	PACBIO	ss3795269767	Jul 13, 2019 (153)
110	KHV_HUMAN_GENOMES	ss3806038540	Jul 13, 2019 (153)
111	EVA	ss3829008495	Apr 26, 2020 (154)
112	EVA	ss3837959463	Apr 26, 2020 (154)
113	EVA	ss3843401546	Apr 26, 2020 (154)
114	HGDP	ss3847776079	Apr 26, 2020 (154)
115	SGDP_PRJ	ss3860849506	Apr 26, 2020 (154)
116	KRGDB	ss3907231924	Apr 26, 2020 (154)
117	KOGIC	ss3955815781	Apr 26, 2020 (154)
118	EVA	ss3984540228	Apr 26, 2021 (155)
119	EVA	ss3985115284	Apr 26, 2021 (155)
120	EVA	ss4017185247	Apr 26, 2021 (155)
121	TOPMED	ss4644891499	Apr 26, 2021 (155)
122	TOMMO_GENOMICS	ss5169681397	Apr 26, 2021 (155)
123	1000G_HIGH_COVERAGE	ss5262335443	Oct 17, 2022 (156)
124	EVA	ss5315017399	Oct 17, 2022 (156)
125	EVA	ss5354679528	Oct 17, 2022 (156)
126	HUGCELL_USP	ss5460753171	Oct 17, 2022 (156)
127	EVA	ss5507871940	Oct 17, 2022 (156)
128	1000G_HIGH_COVERAGE	ss5545135116	Oct 17, 2022 (156)
129	SANFORD_IMAGENETICS	ss5624577035	Oct 17, 2022 (156)
130	SANFORD_IMAGENETICS	ss5636863982	Oct 17, 2022 (156)
131	TOMMO_GENOMICS	ss5705132965	Oct 17, 2022 (156)
132	EVA	ss5799636228	Oct 17, 2022 (156)
133	YY_MCH	ss5805871418	Oct 17, 2022 (156)
134	EVA	ss5845237516	Oct 17, 2022 (156)
135	EVA	ss5848035147	Oct 17, 2022 (156)
136	EVA	ss5854609760	Oct 17, 2022 (156)
137	EVA	ss5866996646	Oct 17, 2022 (156)
138	EVA	ss5965281014	Oct 17, 2022 (156)
139	1000Genomes	NC_000004.11 - 183137398	Oct 12, 2018 (152)
140	1000Genomes_30x	NC_000004.12 - 182216245	Oct 17, 2022 (156)
141	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 183137398	Oct 12, 2018 (152)
142	Genetic variation in the Estonian population	NC_000004.11 - 183137398	Oct 12, 2018 (152)
143	The Danish reference pan genome	NC_000004.11 - 183137398	Apr 26, 2020 (154)
144	gnomAD - Genomes	NC_000004.12 - 182216245	Apr 26, 2021 (155)
145	Genome of the Netherlands Release 5	NC_000004.11 - 183137398	Apr 26, 2020 (154)
146	HGDP-CEPH-db Supplement 1	NC_000004.10 - 183374392	Apr 26, 2020 (154)
147	HapMap	NC_000004.12 - 182216245	Apr 26, 2020 (154)
148	KOREAN population from KRGDB	NC_000004.11 - 183137398	Apr 26, 2020 (154)
149	Korean Genome Project	NC_000004.12 - 182216245	Apr 26, 2020 (154)
150	Northern Sweden	NC_000004.11 - 183137398	Jul 13, 2019 (153)
151	The PAGE Study	NC_000004.12 - 182216245	Jul 13, 2019 (153)
152	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 183137398	Apr 26, 2021 (155)
153	CNV burdens in cranial meningiomas	NC_000004.11 - 183137398	Apr 26, 2021 (155)
154	Qatari	NC_000004.11 - 183137398	Apr 26, 2020 (154)
155	SGDP_PRJ	NC_000004.11 - 183137398	Apr 26, 2020 (154)
156	Siberian	NC_000004.11 - 183137398	Apr 26, 2020 (154)
157	8.3KJPN	NC_000004.11 - 183137398	Apr 26, 2021 (155)
158	14KJPN	NC_000004.12 - 182216245	Oct 17, 2022 (156)
159	TopMed	NC_000004.12 - 182216245	Apr 26, 2021 (155)
160	UK 10K study - Twins	NC_000004.11 - 183137398	Oct 12, 2018 (152)
161	A Vietnamese Genetic Variation Database	NC_000004.11 - 183137398	Jul 13, 2019 (153)
162	ALFA	NC_000004.12 - 182216245	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs57944321	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14409318, ss3907231924	NC_000004.11:183137397:T:A	NC_000004.12:182216244:T:A	(self)
ss77577180, ss3639267317, ss3639656139	NC_000004.9:183512546:T:C	NC_000004.12:182216244:T:C	(self)
453971, ss92919093, ss108661583, ss111155402, ss117327349, ss160573768, ss162877887, ss165298606, ss167487323, ss206258293, ss278087626, ss285080024, ss293274344, ss480647636, ss825475520, ss1590600998, ss1712731794, ss3643477756, ss3847776079	NC_000004.10:183374391:T:C	NC_000004.12:182216244:T:C	(self)
24840674, 13822968, 9824264, 7105576, 6128999, 14409318, 5228788, 341211, 89592, 6367490, 12866486, 3407737, 27650704, 13822968, 3062160, ss221421019, ss232754921, ss239968944, ss480662962, ss481509235, ss485118784, ss537120723, ss558092294, ss651929279, ss778877354, ss783005725, ss783966110, ss832262965, ss832918968, ss833509798, ss834338321, ss981081200, ss1072266677, ss1313307645, ss1430181400, ss1580940637, ss1611963454, ss1654957487, ss1752512384, ss1802737105, ss1924325560, ss1946134406, ss1958747367, ss1969969419, ss2022757497, ss2150891383, ss2625871996, ss2634222378, ss2706398423, ss2711023978, ss2819492523, ss2985939245, ss2996165899, ss3022445843, ss3346145340, ss3625862266, ss3629140944, ss3632152745, ss3633359791, ss3634079686, ss3634983758, ss3635762040, ss3636692423, ss3637514631, ss3638529864, ss3640691051, ss3641171467, ss3641468437, ss3644867271, ss3652937235, ss3664086016, ss3731943923, ss3744246415, ss3745283954, ss3762870563, ss3772778363, ss3784972249, ss3790394011, ss3795269767, ss3829008495, ss3837959463, ss3860849506, ss3907231924, ss3984540228, ss3985115284, ss4017185247, ss5169681397, ss5315017399, ss5354679528, ss5507871940, ss5624577035, ss5636863982, ss5799636228, ss5845237516, ss5848035147, ss5965281014	NC_000004.11:183137397:T:C	NC_000004.12:182216244:T:C	(self)
32661051, 175796319, 2777985, 12193782, 396149, 38970069, 482269055, 830661994, ss2270219446, ss3025158730, ss3713799075, ss3726198487, ss3771174680, ss3806038540, ss3843401546, ss3955815781, ss4644891499, ss5262335443, ss5460753171, ss5545135116, ss5705132965, ss5805871418, ss5854609760, ss5866996646	NC_000004.12:182216244:T:C	NC_000004.12:182216244:T:C	(self)
ss3850270, ss23907301, ss44508263, ss66646602, ss67270188, ss67670693, ss70748635, ss71320700, ss75497250, ss79145002, ss84073629, ss122093876, ss142638685, ss154230759, ss154737945, ss159407277, ss161526954, ss171358335, ss173444380	NT_016354.19:107685118:T:C	NC_000004.12:182216244:T:C	(self)
ss17020440	NT_022792.16:15548918:T:C	NC_000004.12:182216244:T:C	(self)
14409318, ss3907231924	NC_000004.11:183137397:T:G	NC_000004.12:182216244:T:G	(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 rs2726807

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

rs2726807