Name: rs150694064
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.

rs150694064

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:7070564 (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: C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.024395 (6457/264690, TOPMED)
G=0.017700 (2482/140226, GnomAD)
G=0.01779 (336/18890, ALFA) (+ 10 more)
G=0.0206 (132/6404, 1000G_30x)
G=0.0176 (88/5008, 1000G)
G=0.0210 (94/4480, Estonian)
G=0.0117 (45/3854, ALSPAC)
G=0.0143 (53/3708, TWINSUK)
G=0.011 (11/998, GoNL)
G=0.023 (14/600, NorthernSweden)
C=0.44 (16/36, SGDP_PRJ)
C=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	18890	C=0.98221	G=0.01779
European	Sub	14286	C=0.98502	G=0.01498
African	Sub	2946	C=0.9946	G=0.0054
African Others	Sub	114	C=0.991	G=0.009
African American	Sub	2832	C=0.9947	G=0.0053
Asian	Sub	112	C=1.000	G=0.000
East Asian	Sub	86	C=1.00	G=0.00
Other Asian	Sub	26	C=1.00	G=0.00
Latin American 1	Sub	146	C=0.986	G=0.014
Latin American 2	Sub	610	C=0.864	G=0.136
South Asian	Sub	98	C=0.99	G=0.01
Other	Sub	692	C=0.971	G=0.029

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	C=0.975605	G=0.024395
gnomAD - Genomes	Global	Study-wide	140226	C=0.982300	G=0.017700
gnomAD - Genomes	European	Sub	75942	C=0.98846	G=0.01154
gnomAD - Genomes	African	Sub	42026	C=0.99538	G=0.00462
gnomAD - Genomes	American	Sub	13660	C=0.90278	G=0.09722
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9922	G=0.0078
gnomAD - Genomes	East Asian	Sub	3132	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2148	C=0.9730	G=0.0270
Allele Frequency Aggregator	Total	Global	18890	C=0.98221	G=0.01779
Allele Frequency Aggregator	European	Sub	14286	C=0.98502	G=0.01498
Allele Frequency Aggregator	African	Sub	2946	C=0.9946	G=0.0054
Allele Frequency Aggregator	Other	Sub	692	C=0.971	G=0.029
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.864	G=0.136
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.986	G=0.014
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.99	G=0.01
1000Genomes_30x	Global	Study-wide	6404	C=0.9794	G=0.0206
1000Genomes_30x	African	Sub	1786	C=0.9989	G=0.0011
1000Genomes_30x	Europe	Sub	1266	C=0.9882	G=0.0118
1000Genomes_30x	South Asian	Sub	1202	C=0.9975	G=0.0025
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	G=0.0000
1000Genomes_30x	American	Sub	980	C=0.886	G=0.114
1000Genomes	Global	Study-wide	5008	C=0.9824	G=0.0176
1000Genomes	African	Sub	1322	C=0.9985	G=0.0015
1000Genomes	East Asian	Sub	1008	C=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	C=0.9871	G=0.0129
1000Genomes	South Asian	Sub	978	C=0.999	G=0.001
1000Genomes	American	Sub	694	C=0.896	G=0.104
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9790	G=0.0210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9883	G=0.0117
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9857	G=0.0143
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.989	G=0.011
Northern Sweden	ACPOP	Study-wide	600	C=0.977	G=0.023
SGDP_PRJ	Global	Study-wide	36	C=0.44	G=0.56
Siberian	Global	Study-wide	2	C=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.7070564C>G
GRCh37.p13 chr 1	NC_000001.10:g.7130624C>G
CAMTA1 RefSeqGene	NG_053148.1:g.290241C>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.145-2074… NM_001349608.2:c.145-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant 6	NM_001349609.2:c.235-2074… NM_001349609.2:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant 7	NM_001349610.2:c.235-2074… NM_001349610.2:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant 8	NM_001349612.2:c.145-2074… NM_001349612.2:c.145-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant 1	NM_015215.4:c.235-20740C>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.235-2074… XM_011541083.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X2	XM_011541084.3:c.235-2074… XM_011541084.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X4	XM_011541086.4:c.235-2074… XM_011541086.4:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X6	XM_011541087.3:c.235-2074… XM_011541087.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X8	XM_011541088.3:c.145-2074… XM_011541088.3:c.145-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X13	XM_011541090.4:c.235-2074… XM_011541090.4:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_011541091.3:c.235-2074… XM_011541091.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X17	XM_011541092.4:c.235-2074… XM_011541092.4:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X5	XM_017000774.3:c.235-2074… XM_017000774.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000777.2:c.235-2074… XM_017000777.2:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X14	XM_017000778.2:c.235-2074… XM_017000778.2:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X24	XM_017000780.3:c.235-2074… XM_017000780.3:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X3	XM_047415988.1:c.223-2074… XM_047415988.1:c.223-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X7	XM_047415993.1:c.235-2074… XM_047415993.1:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X9	XM_047415997.1:c.235-2074… XM_047415997.1:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X10	XM_047415999.1:c.145-2074… XM_047415999.1:c.145-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X11	XM_047416005.1:c.145-2074… XM_047416005.1:c.145-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X12	XM_047416009.1:c.-84-2074… XM_047416009.1:c.-84-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X16	XM_047416020.1:c.235-2074… XM_047416020.1:c.235-20740C>G	N/A	Intron Variant
CAMTA1 transcript variant X15	XM_047416024.1:c.145-2074… XM_047416024.1:c.145-20740C>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	C=	G
GRCh38.p14 chr 1	NC_000001.11:g.7070564=	NC_000001.11:g.7070564C>G
GRCh37.p13 chr 1	NC_000001.10:g.7130624=	NC_000001.10:g.7130624C>G
CAMTA1 RefSeqGene	NG_053148.1:g.290241=	NG_053148.1:g.290241C>G
CAMTA1 transcript variant 5	NM_001349608.2:c.145-20740=	NM_001349608.2:c.145-20740C>G
CAMTA1 transcript variant 6	NM_001349609.2:c.235-20740=	NM_001349609.2:c.235-20740C>G
CAMTA1 transcript variant 7	NM_001349610.2:c.235-20740=	NM_001349610.2:c.235-20740C>G
CAMTA1 transcript variant 8	NM_001349612.2:c.145-20740=	NM_001349612.2:c.145-20740C>G
CAMTA1 transcript variant 1	NM_015215.2:c.235-20740=	NM_015215.2:c.235-20740C>G
CAMTA1 transcript variant 1	NM_015215.4:c.235-20740=	NM_015215.4:c.235-20740C>G
CAMTA1 transcript variant X1	XM_011541083.3:c.235-20740=	XM_011541083.3:c.235-20740C>G
CAMTA1 transcript variant X2	XM_011541084.3:c.235-20740=	XM_011541084.3:c.235-20740C>G
CAMTA1 transcript variant X4	XM_011541086.4:c.235-20740=	XM_011541086.4:c.235-20740C>G
CAMTA1 transcript variant X6	XM_011541087.3:c.235-20740=	XM_011541087.3:c.235-20740C>G
CAMTA1 transcript variant X8	XM_011541088.3:c.145-20740=	XM_011541088.3:c.145-20740C>G
CAMTA1 transcript variant X13	XM_011541090.4:c.235-20740=	XM_011541090.4:c.235-20740C>G
CAMTA1 transcript variant X16	XM_011541091.3:c.235-20740=	XM_011541091.3:c.235-20740C>G
CAMTA1 transcript variant X17	XM_011541092.4:c.235-20740=	XM_011541092.4:c.235-20740C>G
CAMTA1 transcript variant X5	XM_017000774.3:c.235-20740=	XM_017000774.3:c.235-20740C>G
CAMTA1 transcript variant X14	XM_017000777.2:c.235-20740=	XM_017000777.2:c.235-20740C>G
CAMTA1 transcript variant X14	XM_017000778.2:c.235-20740=	XM_017000778.2:c.235-20740C>G
CAMTA1 transcript variant X24	XM_017000780.3:c.235-20740=	XM_017000780.3:c.235-20740C>G
CAMTA1 transcript variant X3	XM_047415988.1:c.223-20740=	XM_047415988.1:c.223-20740C>G
CAMTA1 transcript variant X7	XM_047415993.1:c.235-20740=	XM_047415993.1:c.235-20740C>G
CAMTA1 transcript variant X9	XM_047415997.1:c.235-20740=	XM_047415997.1:c.235-20740C>G
CAMTA1 transcript variant X10	XM_047415999.1:c.145-20740=	XM_047415999.1:c.145-20740C>G
CAMTA1 transcript variant X11	XM_047416005.1:c.145-20740=	XM_047416005.1:c.145-20740C>G
CAMTA1 transcript variant X12	XM_047416009.1:c.-84-20740=	XM_047416009.1:c.-84-20740C>G
CAMTA1 transcript variant X16	XM_047416020.1:c.235-20740=	XM_047416020.1:c.235-20740C>G
CAMTA1 transcript variant X15	XM_047416024.1:c.145-20740=	XM_047416024.1:c.145-20740C>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#.

29 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss328394462	May 09, 2011 (134)
2	EVA-GONL	ss974825143	Aug 21, 2014 (142)
3	JMKIDD_LAB	ss1067648467	Aug 21, 2014 (142)
4	1000GENOMES	ss1289560532	Aug 21, 2014 (142)
5	EVA_DECODE	ss1584183420	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1599484880	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1642478913	Apr 01, 2015 (144)
8	USC_VALOUEV	ss2147520894	Dec 20, 2016 (150)
9	HUMAN_LONGEVITY	ss2159793116	Dec 20, 2016 (150)
10	ILLUMINA	ss2710664674	Nov 08, 2017 (151)
11	GNOMAD	ss2751268528	Nov 08, 2017 (151)
12	SWEGEN	ss2986246314	Nov 08, 2017 (151)
13	CSHL	ss3343303989	Nov 08, 2017 (151)
14	EGCUT_WGS	ss3654346277	Jul 12, 2019 (153)
15	EVA_DECODE	ss3686101638	Jul 12, 2019 (153)
16	ACPOP	ss3726764273	Jul 12, 2019 (153)
17	EVA	ss3745791631	Jul 12, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3798812202	Jul 12, 2019 (153)
19	SGDP_PRJ	ss3848129641	Apr 25, 2020 (154)
20	TOPMED	ss4438182014	Apr 25, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5241063936	Oct 17, 2022 (156)
22	EVA	ss5316551095	Oct 17, 2022 (156)
23	HUGCELL_USP	ss5442279315	Oct 17, 2022 (156)
24	EVA	ss5505759276	Oct 17, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5512773934	Oct 17, 2022 (156)
26	SANFORD_IMAGENETICS	ss5624863860	Oct 17, 2022 (156)
27	EVA	ss5831498486	Oct 17, 2022 (156)
28	EVA	ss5906920720	Oct 17, 2022 (156)
29	EVA	ss5936690167	Oct 17, 2022 (156)
30	1000Genomes	NC_000001.10 - 7130624	Oct 11, 2018 (152)
31	1000Genomes_30x	NC_000001.11 - 7070564	Oct 17, 2022 (156)
32	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 7130624	Oct 11, 2018 (152)
33	Genetic variation in the Estonian population	NC_000001.10 - 7130624	Oct 11, 2018 (152)
34	gnomAD - Genomes	NC_000001.11 - 7070564	Apr 25, 2021 (155)
35	Genome of the Netherlands Release 5	NC_000001.10 - 7130624	Apr 25, 2020 (154)
36	Northern Sweden	NC_000001.10 - 7130624	Jul 12, 2019 (153)
37	SGDP_PRJ	NC_000001.10 - 7130624	Apr 25, 2020 (154)
38	Siberian	NC_000001.10 - 7130624	Apr 25, 2020 (154)
39	TopMed	NC_000001.11 - 7070564	Apr 25, 2021 (155)
40	UK 10K study - Twins	NC_000001.10 - 7130624	Oct 11, 2018 (152)
41	ALFA	NC_000001.11 - 7070564	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
ss1584183420	NC_000001.9:7053210:C:G	NC_000001.11:7070563:C:G	(self)
232028, 116233, 84525, 50586, 49138, 146621, 37248, 116233, ss328394462, ss974825143, ss1067648467, ss1289560532, ss1599484880, ss1642478913, ss2147520894, ss2710664674, ss2751268528, ss2986246314, ss3343303989, ss3654346277, ss3726764273, ss3745791631, ss3848129641, ss5316551095, ss5505759276, ss5624863860, ss5831498486, ss5936690167	NC_000001.10:7130623:C:G	NC_000001.11:7070563:C:G	(self)
299869, 1602502, 1788349, 6738894529, ss2159793116, ss3686101638, ss3798812202, ss4438182014, ss5241063936, ss5442279315, ss5512773934, ss5906920720	NC_000001.11:7070563:C:G	NC_000001.11:7070563:C: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 rs150694064

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

rs150694064