Name: rs74707961
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.

rs74707961

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:36948627 (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=0.026608 (7043/264690, TOPMED)
C=0.024810 (3480/140264, GnomAD)
C=0.01779 (336/18890, ALFA) (+ 11 more)
C=0.0294 (188/6404, 1000G_30x)
C=0.0278 (139/5008, 1000G)
C=0.0029 (13/4480, Estonian)
C=0.0067 (26/3854, ALSPAC)
C=0.0094 (35/3708, TWINSUK)
C=0.005 (5/998, GoNL)
C=0.007 (4/600, NorthernSweden)
C=0.111 (24/216, Qatari)
C=0.03 (1/40, GENOME_DK)
T=0.50 (6/12, SGDP_PRJ)
C=0.50 (6/12, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: STRN : 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	T=0.98221	C=0.01779
European	Sub	14286	T=0.99195	C=0.00805
African	Sub	2946	T=0.9348	C=0.0652
African Others	Sub	114	T=0.904	C=0.096
African American	Sub	2832	T=0.9361	C=0.0639
Asian	Sub	112	T=1.000	C=0.000
East Asian	Sub	86	T=1.00	C=0.00
Other Asian	Sub	26	T=1.00	C=0.00
Latin American 1	Sub	146	T=0.979	C=0.021
Latin American 2	Sub	610	T=0.989	C=0.011
South Asian	Sub	98	T=0.98	C=0.02
Other	Sub	692	T=0.975	C=0.025

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=0.973392	C=0.026608
gnomAD - Genomes	Global	Study-wide	140264	T=0.975190	C=0.024810
gnomAD - Genomes	European	Sub	75966	T=0.99313	C=0.00687
gnomAD - Genomes	African	Sub	42032	T=0.93738	C=0.06262
gnomAD - Genomes	American	Sub	13660	T=0.98777	C=0.01223
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.9611	C=0.0389
gnomAD - Genomes	East Asian	Sub	3134	T=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2152	T=0.9861	C=0.0139
Allele Frequency Aggregator	Total	Global	18890	T=0.98221	C=0.01779
Allele Frequency Aggregator	European	Sub	14286	T=0.99195	C=0.00805
Allele Frequency Aggregator	African	Sub	2946	T=0.9348	C=0.0652
Allele Frequency Aggregator	Other	Sub	692	T=0.975	C=0.025
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.989	C=0.011
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.979	C=0.021
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.98	C=0.02
1000Genomes_30x	Global	Study-wide	6404	T=0.9706	C=0.0294
1000Genomes_30x	African	Sub	1786	T=0.9160	C=0.0840
1000Genomes_30x	Europe	Sub	1266	T=0.9945	C=0.0055
1000Genomes_30x	South Asian	Sub	1202	T=0.9933	C=0.0067
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.977	C=0.023
1000Genomes	Global	Study-wide	5008	T=0.9722	C=0.0278
1000Genomes	African	Sub	1322	T=0.9183	C=0.0817
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9930	C=0.0070
1000Genomes	South Asian	Sub	978	T=0.991	C=0.009
1000Genomes	American	Sub	694	T=0.978	C=0.022
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9971	C=0.0029
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9933	C=0.0067
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9906	C=0.0094
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.995	C=0.005
Northern Sweden	ACPOP	Study-wide	600	T=0.993	C=0.007
Qatari	Global	Study-wide	216	T=0.889	C=0.111
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
SGDP_PRJ	Global	Study-wide	12	T=0.50	C=0.50

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 2	NC_000002.12:g.36948627T>C
GRCh37.p13 chr 2	NC_000002.11:g.37175770T>C

Gene: STRN, striatin (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
STRN transcript	NM_003162.4:c.234+17603A>G	N/A	Intron Variant
STRN transcript variant X2	XM_005264519.6:c.234+1760… XM_005264519.6:c.234+17603A>G	N/A	Intron Variant
STRN transcript variant X1	XM_011533073.3:c.234+1760… XM_011533073.3:c.234+17603A>G	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=	C
GRCh38.p14 chr 2	NC_000002.12:g.36948627=	NC_000002.12:g.36948627T>C
GRCh37.p13 chr 2	NC_000002.11:g.37175770=	NC_000002.11:g.37175770T>C
STRN transcript	NM_003162.3:c.234+17603=	NM_003162.3:c.234+17603A>G
STRN transcript	NM_003162.4:c.234+17603=	NM_003162.4:c.234+17603A>G
STRN transcript variant X1	XM_005264519.1:c.234+17603=	XM_005264519.1:c.234+17603A>G
STRN transcript variant X2	XM_005264519.6:c.234+17603=	XM_005264519.6:c.234+17603A>G
STRN transcript variant X1	XM_011533073.3:c.234+17603=	XM_011533073.3:c.234+17603A>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, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss219175759	Jul 14, 2010 (132)
2	TISHKOFF	ss555480259	Apr 25, 2013 (138)
3	SSMP	ss649065276	Apr 25, 2013 (138)
4	EVA-GONL	ss976694810	Aug 21, 2014 (142)
5	1000GENOMES	ss1296696640	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1578824267	Apr 01, 2015 (144)
7	EVA_DECODE	ss1586101829	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1603228256	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1646222289	Apr 01, 2015 (144)
10	HAMMER_LAB	ss1796569425	Sep 08, 2015 (146)
11	WEILL_CORNELL_DGM	ss1919927889	Feb 12, 2016 (147)
12	JJLAB	ss2020494754	Sep 14, 2016 (149)
13	HUMAN_LONGEVITY	ss2229148637	Dec 20, 2016 (150)
14	GNOMAD	ss2771939961	Nov 08, 2017 (151)
15	SWEGEN	ss2989293768	Nov 08, 2017 (151)
16	EGCUT_WGS	ss3657253799	Jul 13, 2019 (153)
17	EVA_DECODE	ss3703634814	Jul 13, 2019 (153)
18	ACPOP	ss3728323578	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3800975235	Jul 13, 2019 (153)
20	SGDP_PRJ	ss3851997724	Apr 25, 2020 (154)
21	TOPMED	ss4500930902	Apr 26, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5247597251	Oct 17, 2022 (156)
23	EVA	ss5328069808	Oct 17, 2022 (156)
24	HUGCELL_USP	ss5447843376	Oct 17, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5522568145	Oct 17, 2022 (156)
26	SANFORD_IMAGENETICS	ss5628482206	Oct 17, 2022 (156)
27	EVA	ss5819921202	Oct 17, 2022 (156)
28	EVA	ss5929820640	Oct 17, 2022 (156)
29	EVA	ss5954693010	Oct 17, 2022 (156)
30	1000Genomes	NC_000002.11 - 37175770	Oct 11, 2018 (152)
31	1000Genomes_30x	NC_000002.12 - 36948627	Oct 17, 2022 (156)
32	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 37175770	Oct 11, 2018 (152)
33	Genetic variation in the Estonian population	NC_000002.11 - 37175770	Oct 11, 2018 (152)
34	The Danish reference pan genome	NC_000002.11 - 37175770	Apr 25, 2020 (154)
35	gnomAD - Genomes	NC_000002.12 - 36948627	Apr 26, 2021 (155)
36	Genome of the Netherlands Release 5	NC_000002.11 - 37175770	Apr 25, 2020 (154)
37	Northern Sweden	NC_000002.11 - 37175770	Jul 13, 2019 (153)
38	Qatari	NC_000002.11 - 37175770	Apr 25, 2020 (154)
39	SGDP_PRJ	NC_000002.11 - 37175770	Apr 25, 2020 (154)
40	TopMed	NC_000002.12 - 36948627	Apr 26, 2021 (155)
41	UK 10K study - Twins	NC_000002.11 - 37175770	Oct 11, 2018 (152)
42	ALFA	NC_000002.12 - 36948627	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1586101829	NC_000002.10:37029273:T:C	NC_000002.12:36948626:T:C	(self)
7625000, 4235078, 2992047, 4998877, 1862234, 1608443, 1969819, 4014704, 4235078, ss219175759, ss555480259, ss649065276, ss976694810, ss1296696640, ss1578824267, ss1603228256, ss1646222289, ss1796569425, ss1919927889, ss2020494754, ss2771939961, ss2989293768, ss3657253799, ss3728323578, ss3851997724, ss5328069808, ss5628482206, ss5819921202, ss5954693010	NC_000002.11:37175769:T:C	NC_000002.12:36948626:T:C	(self)
10094080, 54116143, 304753781, 12319837006, ss2229148637, ss3703634814, ss3800975235, ss4500930902, ss5247597251, ss5447843376, ss5522568145, ss5929820640	NC_000002.12:36948626:T:C	NC_000002.12:36948626: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 rs74707961

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

rs74707961