Name: rs12069816
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.

rs12069816

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:6911323 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.060403 (15988/264690, TOPMED)
G=0.059432 (8332/140194, GnomAD)
G=0.00004 (1/28258, 14KJPN) (+ 14 more)
G=0.05935 (1139/19190, ALFA)
G=0.00006 (1/16760, 8.3KJPN)
G=0.0472 (302/6404, 1000G_30x)
G=0.0447 (224/5008, 1000G)
G=0.0371 (166/4480, Estonian)
G=0.0607 (234/3854, ALSPAC)
G=0.0642 (238/3708, TWINSUK)
G=0.060 (60/998, GoNL)
G=0.030 (18/600, NorthernSweden)
G=0.125 (27/216, Qatari)
A=0.45 (20/44, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
A=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)

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	19190	A=0.94065	G=0.05935
European	Sub	14286	A=0.93994	G=0.06006
African	Sub	2970	A=0.9394	G=0.0606
African Others	Sub	114	A=0.982	G=0.018
African American	Sub	2856	A=0.9377	G=0.0623
Asian	Sub	116	A=0.991	G=0.009
East Asian	Sub	88	A=1.00	G=0.00
Other Asian	Sub	28	A=0.96	G=0.04
Latin American 1	Sub	154	A=0.929	G=0.071
Latin American 2	Sub	616	A=0.955	G=0.045
South Asian	Sub	98	A=0.96	G=0.04
Other	Sub	950	A=0.940	G=0.060

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=0.939597	G=0.060403
gnomAD - Genomes	Global	Study-wide	140194	A=0.940568	G=0.059432
gnomAD - Genomes	European	Sub	75922	A=0.94143	G=0.05857
gnomAD - Genomes	African	Sub	42026	A=0.93542	G=0.06458
gnomAD - Genomes	American	Sub	13644	A=0.95485	G=0.04515
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.8727	G=0.1273
gnomAD - Genomes	East Asian	Sub	3128	A=0.9990	G=0.0010
gnomAD - Genomes	Other	Sub	2152	A=0.9401	G=0.0599
14KJPN	JAPANESE	Study-wide	28258	A=0.99996	G=0.00004
Allele Frequency Aggregator	Total	Global	19190	A=0.94065	G=0.05935
Allele Frequency Aggregator	European	Sub	14286	A=0.93994	G=0.06006
Allele Frequency Aggregator	African	Sub	2970	A=0.9394	G=0.0606
Allele Frequency Aggregator	Other	Sub	950	A=0.940	G=0.060
Allele Frequency Aggregator	Latin American 2	Sub	616	A=0.955	G=0.045
Allele Frequency Aggregator	Latin American 1	Sub	154	A=0.929	G=0.071
Allele Frequency Aggregator	Asian	Sub	116	A=0.991	G=0.009
Allele Frequency Aggregator	South Asian	Sub	98	A=0.96	G=0.04
8.3KJPN	JAPANESE	Study-wide	16760	A=0.99994	G=0.00006
1000Genomes_30x	Global	Study-wide	6404	A=0.9528	G=0.0472
1000Genomes_30x	African	Sub	1786	A=0.9323	G=0.0677
1000Genomes_30x	Europe	Sub	1266	A=0.9226	G=0.0774
1000Genomes_30x	South Asian	Sub	1202	A=0.9717	G=0.0283
1000Genomes_30x	East Asian	Sub	1170	A=0.9983	G=0.0017
1000Genomes_30x	American	Sub	980	A=0.952	G=0.048
1000Genomes	Global	Study-wide	5008	A=0.9553	G=0.0447
1000Genomes	African	Sub	1322	A=0.9304	G=0.0696
1000Genomes	East Asian	Sub	1008	A=0.9990	G=0.0010
1000Genomes	Europe	Sub	1006	A=0.9294	G=0.0706
1000Genomes	South Asian	Sub	978	A=0.972	G=0.028
1000Genomes	American	Sub	694	A=0.952	G=0.048
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9629	G=0.0371
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9393	G=0.0607
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9358	G=0.0642
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.940	G=0.060
Northern Sweden	ACPOP	Study-wide	600	A=0.970	G=0.030
Qatari	Global	Study-wide	216	A=0.875	G=0.125
SGDP_PRJ	Global	Study-wide	44	A=0.45	G=0.55
The Danish reference pan genome	Danish	Study-wide	40	A=0.97	G=0.03
Siberian	Global	Study-wide	2	A=0.5	G=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 1	NC_000001.11:g.6911323A>G
GRCh37.p13 chr 1	NC_000001.10:g.6971383A>G
CAMTA1 RefSeqGene	NG_053148.1:g.131000A>G

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.144+8611… NM_001349608.2:c.144+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant 6	NM_001349609.2:c.234+8611… NM_001349609.2:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant 7	NM_001349610.2:c.234+8611… NM_001349610.2:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant 8	NM_001349612.2:c.144+8611… NM_001349612.2:c.144+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant 1	NM_015215.4:c.234+86113A>G	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.234+8611… XM_011541083.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X2	XM_011541084.3:c.234+8611… XM_011541084.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X4	XM_011541086.4:c.234+8611… XM_011541086.4:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X6	XM_011541087.3:c.234+8611… XM_011541087.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X8	XM_011541088.3:c.144+8611… XM_011541088.3:c.144+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X13	XM_011541090.4:c.234+8611… XM_011541090.4:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_011541091.3:c.234+8611… XM_011541091.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X17	XM_011541092.4:c.234+8611… XM_011541092.4:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X5	XM_017000774.3:c.234+8611… XM_017000774.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000777.2:c.234+8611… XM_017000777.2:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000778.2:c.234+8611… XM_017000778.2:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X24	XM_017000780.3:c.234+8611… XM_017000780.3:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X3	XM_047415988.1:c.222+8611… XM_047415988.1:c.222+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X7	XM_047415993.1:c.234+8611… XM_047415993.1:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X9	XM_047415997.1:c.234+8611… XM_047415997.1:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X10	XM_047415999.1:c.144+8611… XM_047415999.1:c.144+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X11	XM_047416005.1:c.144+8611… XM_047416005.1:c.144+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X12	XM_047416009.1:c.-85+8611… XM_047416009.1:c.-85+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_047416020.1:c.234+8611… XM_047416020.1:c.234+86113A>G	N/A	Intron Variant
CAMTA1 transcript variant X15	XM_047416024.1:c.144+8611… XM_047416024.1:c.144+86113A>G	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=	G
GRCh38.p14 chr 1	NC_000001.11:g.6911323=	NC_000001.11:g.6911323A>G
GRCh37.p13 chr 1	NC_000001.10:g.6971383=	NC_000001.10:g.6971383A>G
CAMTA1 RefSeqGene	NG_053148.1:g.131000=	NG_053148.1:g.131000A>G
CAMTA1 transcript variant 5	NM_001349608.2:c.144+86113=	NM_001349608.2:c.144+86113A>G
CAMTA1 transcript variant 6	NM_001349609.2:c.234+86113=	NM_001349609.2:c.234+86113A>G
CAMTA1 transcript variant 7	NM_001349610.2:c.234+86113=	NM_001349610.2:c.234+86113A>G
CAMTA1 transcript variant 8	NM_001349612.2:c.144+86113=	NM_001349612.2:c.144+86113A>G
CAMTA1 transcript variant 1	NM_015215.2:c.234+86113=	NM_015215.2:c.234+86113A>G
CAMTA1 transcript variant 1	NM_015215.4:c.234+86113=	NM_015215.4:c.234+86113A>G
CAMTA1 transcript variant X1	XM_011541083.3:c.234+86113=	XM_011541083.3:c.234+86113A>G
CAMTA1 transcript variant X2	XM_011541084.3:c.234+86113=	XM_011541084.3:c.234+86113A>G
CAMTA1 transcript variant X4	XM_011541086.4:c.234+86113=	XM_011541086.4:c.234+86113A>G
CAMTA1 transcript variant X6	XM_011541087.3:c.234+86113=	XM_011541087.3:c.234+86113A>G
CAMTA1 transcript variant X8	XM_011541088.3:c.144+86113=	XM_011541088.3:c.144+86113A>G
CAMTA1 transcript variant X13	XM_011541090.4:c.234+86113=	XM_011541090.4:c.234+86113A>G
CAMTA1 transcript variant X16	XM_011541091.3:c.234+86113=	XM_011541091.3:c.234+86113A>G
CAMTA1 transcript variant X17	XM_011541092.4:c.234+86113=	XM_011541092.4:c.234+86113A>G
CAMTA1 transcript variant X5	XM_017000774.3:c.234+86113=	XM_017000774.3:c.234+86113A>G
CAMTA1 transcript variant X14	XM_017000777.2:c.234+86113=	XM_017000777.2:c.234+86113A>G
CAMTA1 transcript variant X14	XM_017000778.2:c.234+86113=	XM_017000778.2:c.234+86113A>G
CAMTA1 transcript variant X24	XM_017000780.3:c.234+86113=	XM_017000780.3:c.234+86113A>G
CAMTA1 transcript variant X3	XM_047415988.1:c.222+86113=	XM_047415988.1:c.222+86113A>G
CAMTA1 transcript variant X7	XM_047415993.1:c.234+86113=	XM_047415993.1:c.234+86113A>G
CAMTA1 transcript variant X9	XM_047415997.1:c.234+86113=	XM_047415997.1:c.234+86113A>G
CAMTA1 transcript variant X10	XM_047415999.1:c.144+86113=	XM_047415999.1:c.144+86113A>G
CAMTA1 transcript variant X11	XM_047416005.1:c.144+86113=	XM_047416005.1:c.144+86113A>G
CAMTA1 transcript variant X12	XM_047416009.1:c.-85+86113=	XM_047416009.1:c.-85+86113A>G
CAMTA1 transcript variant X16	XM_047416020.1:c.234+86113=	XM_047416020.1:c.234+86113A>G
CAMTA1 transcript variant X15	XM_047416024.1:c.144+86113=	XM_047416024.1:c.144+86113A>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#.

47 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18159560	Feb 28, 2004 (120)
2	HUMANGENOME_JCVI	ss99183788	Feb 06, 2009 (130)
3	1000GENOMES	ss107968930	Jan 22, 2009 (130)
4	ENSEMBL	ss138910845	Dec 01, 2009 (131)
5	BCM-HGSC-SUB	ss205491322	Jul 04, 2010 (132)
6	1000GENOMES	ss218219460	Jul 14, 2010 (132)
7	1000GENOMES	ss230415446	Jul 14, 2010 (132)
8	BL	ss252896788	May 09, 2011 (134)
9	PJP	ss290569954	May 09, 2011 (134)
10	ILLUMINA	ss536330614	Sep 08, 2015 (146)
11	TISHKOFF	ss553761783	Apr 25, 2013 (138)
12	EVA-GONL	ss974823882	Aug 21, 2014 (142)
13	JMKIDD_LAB	ss1067647585	Aug 21, 2014 (142)
14	1000GENOMES	ss1289555820	Aug 21, 2014 (142)
15	DDI	ss1425702729	Apr 01, 2015 (144)
16	EVA_GENOME_DK	ss1573871980	Apr 01, 2015 (144)
17	EVA_DECODE	ss1584182105	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1599482319	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1642476352	Apr 01, 2015 (144)
20	WEILL_CORNELL_DGM	ss1918021289	Feb 12, 2016 (147)
21	JJLAB	ss2019526446	Sep 14, 2016 (149)
22	USC_VALOUEV	ss2147520115	Dec 20, 2016 (150)
23	HUMAN_LONGEVITY	ss2159782994	Dec 20, 2016 (150)
24	GNOMAD	ss2751255532	Nov 08, 2017 (151)
25	SWEGEN	ss2986244414	Nov 08, 2017 (151)
26	CSHL	ss3343303308	Nov 08, 2017 (151)
27	ILLUMINA	ss3626018650	Oct 11, 2018 (152)
28	BIOINF_KMB_FNS_UNIBA	ss3645024881	Oct 11, 2018 (152)
29	URBANLAB	ss3646593211	Oct 11, 2018 (152)
30	EGCUT_WGS	ss3654344291	Jul 12, 2019 (153)
31	EVA_DECODE	ss3686099255	Jul 12, 2019 (153)
32	ACPOP	ss3726763215	Jul 12, 2019 (153)
33	EVA	ss3745790097	Jul 12, 2019 (153)
34	EVA	ss3826008206	Apr 25, 2020 (154)
35	SGDP_PRJ	ss3848127211	Apr 25, 2020 (154)
36	TOPMED	ss4438142292	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5142319818	Apr 25, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5241059964	Oct 17, 2022 (156)
39	EVA	ss5316543405	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5442275629	Oct 17, 2022 (156)
41	EVA	ss5505758689	Oct 17, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5512767836	Oct 17, 2022 (156)
43	SANFORD_IMAGENETICS	ss5624861536	Oct 17, 2022 (156)
44	TOMMO_GENOMICS	ss5666571501	Oct 17, 2022 (156)
45	EVA	ss5831496857	Oct 17, 2022 (156)
46	EVA	ss5906915827	Oct 17, 2022 (156)
47	EVA	ss5936687600	Oct 17, 2022 (156)
48	1000Genomes	NC_000001.10 - 6971383	Oct 11, 2018 (152)
49	1000Genomes_30x	NC_000001.11 - 6911323	Oct 17, 2022 (156)
50	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 6971383	Oct 11, 2018 (152)
51	Genetic variation in the Estonian population	NC_000001.10 - 6971383	Oct 11, 2018 (152)
52	The Danish reference pan genome	NC_000001.10 - 6971383	Apr 25, 2020 (154)
53	gnomAD - Genomes	NC_000001.11 - 6911323	Apr 25, 2021 (155)
54	Genome of the Netherlands Release 5	NC_000001.10 - 6971383	Apr 25, 2020 (154)
55	Northern Sweden	NC_000001.10 - 6971383	Jul 12, 2019 (153)
56	Qatari	NC_000001.10 - 6971383	Apr 25, 2020 (154)
57	SGDP_PRJ	NC_000001.10 - 6971383	Apr 25, 2020 (154)
58	Siberian	NC_000001.10 - 6971383	Apr 25, 2020 (154)
59	8.3KJPN	NC_000001.10 - 6971383	Apr 25, 2021 (155)
60	14KJPN	NC_000001.11 - 6911323	Oct 17, 2022 (156)
61	TopMed	NC_000001.11 - 6911323	Apr 25, 2021 (155)
62	UK 10K study - Twins	NC_000001.10 - 6971383	Oct 11, 2018 (152)
63	ALFA	NC_000001.11 - 6911323	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss107968930, ss205491322, ss252896788, ss290569954, ss1584182105	NC_000001.9:6893969:A:G	NC_000001.11:6911322:A:G	(self)
227173, 113418, 82539, 1378430, 49344, 48080, 63219, 144191, 36469, 289125, 113418, ss218219460, ss230415446, ss536330614, ss553761783, ss974823882, ss1067647585, ss1289555820, ss1425702729, ss1573871980, ss1599482319, ss1642476352, ss1918021289, ss2019526446, ss2147520115, ss2751255532, ss2986244414, ss3343303308, ss3626018650, ss3654344291, ss3726763215, ss3745790097, ss3826008206, ss3848127211, ss5142319818, ss5316543405, ss5505758689, ss5624861536, ss5831496857, ss5936687600	NC_000001.10:6971382:A:G	NC_000001.11:6911322:A:G	(self)
293771, 1569725, 408605, 1748627, 1351301644, ss2159782994, ss3645024881, ss3646593211, ss3686099255, ss4438142292, ss5241059964, ss5442275629, ss5512767836, ss5666571501, ss5906915827	NC_000001.11:6911322:A:G	NC_000001.11:6911322:A:G	(self)
ss18159560	NT_021937.16:1098441:A:G	NC_000001.11:6911322:A:G	(self)
ss99183788, ss138910845	NT_021937.19:2976114:A:G	NC_000001.11:6911322:A: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 rs12069816

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12069816