Name: rs3845778
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.

rs3845778

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:36905984 (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 / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.404428 (107048/264690, TOPMED)
C=0.405377 (56692/139850, GnomAD)
C=0.32755 (25776/78694, PAGE_STUDY) (+ 19 more)
C=0.37802 (10682/28258, 14KJPN)
C=0.42954 (9151/21304, ALFA)
C=0.38013 (6371/16760, 8.3KJPN)
C=0.3446 (2207/6404, 1000G_30x)
C=0.3464 (1735/5008, 1000G)
T=0.4893 (2192/4480, Estonian)
T=0.4712 (1816/3854, ALSPAC)
T=0.4798 (1779/3708, TWINSUK)
C=0.3724 (1091/2930, KOREAN)
C=0.3646 (668/1832, Korea1K)
C=0.4630 (525/1134, Daghestan)
T=0.488 (487/998, GoNL)
C=0.455 (273/600, NorthernSweden)
C=0.263 (122/464, SGDP_PRJ)
C=0.338 (111/328, HapMap)
C=0.468 (101/216, Qatari)
C=0.308 (66/214, Vietnamese)
C=0.33 (15/46, Siberian)
T=0.42 (17/40, GENOME_DK)

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	21304	C=0.42954	G=0.00000, T=0.57046
European	Sub	13868	C=0.53613	G=0.00000, T=0.46387
African	Sub	5482	C=0.1616	G=0.0000, T=0.8384
African Others	Sub	174	C=0.103	G=0.000, T=0.897
African American	Sub	5308	C=0.1635	G=0.0000, T=0.8365
Asian	Sub	146	C=0.377	G=0.000, T=0.623
East Asian	Sub	120	C=0.375	G=0.000, T=0.625
Other Asian	Sub	26	C=0.38	G=0.00, T=0.62
Latin American 1	Sub	146	C=0.418	G=0.000, T=0.582
Latin American 2	Sub	610	C=0.526	G=0.000, T=0.474
South Asian	Sub	104	C=0.365	G=0.000, T=0.635
Other	Sub	948	C=0.374	G=0.000, T=0.626

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.404428	T=0.595572
gnomAD - Genomes	Global	Study-wide	139850	C=0.405377	T=0.594623
gnomAD - Genomes	European	Sub	75726	C=0.51991	T=0.48009
gnomAD - Genomes	African	Sub	41940	C=0.15498	T=0.84502
gnomAD - Genomes	American	Sub	13604	C=0.52396	T=0.47604
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.5193	T=0.4807
gnomAD - Genomes	East Asian	Sub	3110	C=0.3338	T=0.6662
gnomAD - Genomes	Other	Sub	2148	C=0.4330	T=0.5670
The PAGE Study	Global	Study-wide	78694	C=0.32755	T=0.67245
The PAGE Study	AfricanAmerican	Sub	32514	C=0.16015	T=0.83985
The PAGE Study	Mexican	Sub	10810	C=0.54829	T=0.45171
The PAGE Study	Asian	Sub	8314	C=0.3752	T=0.6248
The PAGE Study	PuertoRican	Sub	7918	C=0.4513	T=0.5487
The PAGE Study	NativeHawaiian	Sub	4532	C=0.3180	T=0.6820
The PAGE Study	Cuban	Sub	4230	C=0.4861	T=0.5139
The PAGE Study	Dominican	Sub	3828	C=0.3320	T=0.6680
The PAGE Study	CentralAmerican	Sub	2450	C=0.5061	T=0.4939
The PAGE Study	SouthAmerican	Sub	1982	C=0.4839	T=0.5161
The PAGE Study	NativeAmerican	Sub	1260	C=0.4992	T=0.5008
The PAGE Study	SouthAsian	Sub	856	C=0.414	T=0.586
14KJPN	JAPANESE	Study-wide	28258	C=0.37802	T=0.62198
Allele Frequency Aggregator	Total	Global	21304	C=0.42954	G=0.00000, T=0.57046
Allele Frequency Aggregator	European	Sub	13868	C=0.53613	G=0.00000, T=0.46387
Allele Frequency Aggregator	African	Sub	5482	C=0.1616	G=0.0000, T=0.8384
Allele Frequency Aggregator	Other	Sub	948	C=0.374	G=0.000, T=0.626
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.526	G=0.000, T=0.474
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.418	G=0.000, T=0.582
Allele Frequency Aggregator	Asian	Sub	146	C=0.377	G=0.000, T=0.623
Allele Frequency Aggregator	South Asian	Sub	104	C=0.365	G=0.000, T=0.635
8.3KJPN	JAPANESE	Study-wide	16760	C=0.38013	T=0.61987
1000Genomes_30x	Global	Study-wide	6404	C=0.3446	T=0.6554
1000Genomes_30x	African	Sub	1786	C=0.1013	T=0.8987
1000Genomes_30x	Europe	Sub	1266	C=0.5276	T=0.4724
1000Genomes_30x	South Asian	Sub	1202	C=0.4043	T=0.5957
1000Genomes_30x	East Asian	Sub	1170	C=0.3274	T=0.6726
1000Genomes_30x	American	Sub	980	C=0.499	T=0.501
1000Genomes	Global	Study-wide	5008	C=0.3464	T=0.6536
1000Genomes	African	Sub	1322	C=0.1014	T=0.8986
1000Genomes	East Asian	Sub	1008	C=0.3224	T=0.6776
1000Genomes	Europe	Sub	1006	C=0.5219	T=0.4781
1000Genomes	South Asian	Sub	978	C=0.410	T=0.590
1000Genomes	American	Sub	694	C=0.504	T=0.496
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5107	T=0.4893
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5288	T=0.4712
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5202	T=0.4798
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3724	T=0.6276
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3646	T=0.6354
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.4630	T=0.5370
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.451	T=0.549
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.542	T=0.458
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.475	T=0.525
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.537	T=0.463
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.32	T=0.68
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.50	T=0.50
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.512	T=0.488
Northern Sweden	ACPOP	Study-wide	600	C=0.455	T=0.545
SGDP_PRJ	Global	Study-wide	464	C=0.263	T=0.737
HapMap	Global	Study-wide	328	C=0.338	T=0.662
HapMap	African	Sub	120	C=0.092	T=0.908
HapMap	American	Sub	120	C=0.517	T=0.483
HapMap	Asian	Sub	88	C=0.43	T=0.57
Qatari	Global	Study-wide	216	C=0.468	T=0.532
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.308	T=0.692
Siberian	Global	Study-wide	46	C=0.33	T=0.67
The Danish reference pan genome	Danish	Study-wide	40	C=0.57	T=0.42

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.36905984C>G
GRCh38.p14 chr 2	NC_000002.12:g.36905984C>T
GRCh37.p13 chr 2	NC_000002.11:g.37133127C>G
GRCh37.p13 chr 2	NC_000002.11:g.37133127C>T

Gene: STRN, striatin (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
STRN transcript	NM_003162.4:c.413-366G>C	N/A	Intron Variant
STRN transcript variant X2	XM_005264519.6:c.413-366G… XM_005264519.6:c.413-366G>C	N/A	Intron Variant
STRN transcript variant X1	XM_011533073.3:c.413-366G… XM_011533073.3:c.413-366G>C	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	C=	G	T
GRCh38.p14 chr 2	NC_000002.12:g.36905984=	NC_000002.12:g.36905984C>G	NC_000002.12:g.36905984C>T
GRCh37.p13 chr 2	NC_000002.11:g.37133127=	NC_000002.11:g.37133127C>G	NC_000002.11:g.37133127C>T
STRN transcript	NM_003162.3:c.413-366=	NM_003162.3:c.413-366G>C	NM_003162.3:c.413-366G>A
STRN transcript	NM_003162.4:c.413-366=	NM_003162.4:c.413-366G>C	NM_003162.4:c.413-366G>A
STRN transcript variant X1	XM_005264519.1:c.413-366=	XM_005264519.1:c.413-366G>C	XM_005264519.1:c.413-366G>A
STRN transcript variant X2	XM_005264519.6:c.413-366=	XM_005264519.6:c.413-366G>C	XM_005264519.6:c.413-366G>A
STRN transcript variant X1	XM_011533073.3:c.413-366=	XM_011533073.3:c.413-366G>C	XM_011533073.3:c.413-366G>A

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#.

75 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1396674	Oct 08, 2002 (108)
2	TSC-CSHL	ss5353264	Oct 08, 2002 (108)
3	TSC-CSHL	ss5353346	Oct 08, 2002 (108)
4	SC_JCM	ss5648856	Feb 20, 2003 (111)
5	WI_SSAHASNP	ss6430949	Feb 20, 2003 (111)
6	WUGSC_SSAHASNP	ss14497583	Dec 05, 2003 (119)
7	ABI	ss41583819	Mar 14, 2006 (126)
8	BCMHGSC_JDW	ss91122899	Mar 24, 2008 (129)
9	BGI	ss103474935	Dec 01, 2009 (131)
10	ILLUMINA-UK	ss117660122	Dec 01, 2009 (131)
11	ENSEMBL	ss138422652	Dec 01, 2009 (131)
12	GMI	ss156919042	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss164175652	Jul 04, 2010 (132)
14	BUSHMAN	ss200286709	Jul 04, 2010 (132)
15	1000GENOMES	ss210865506	Jul 14, 2010 (132)
16	1000GENOMES	ss219175612	Jul 14, 2010 (132)
17	1000GENOMES	ss231116817	Jul 14, 2010 (132)
18	1000GENOMES	ss238682847	Jul 15, 2010 (132)
19	BL	ss253036465	May 09, 2011 (134)
20	GMI	ss276422214	May 04, 2012 (137)
21	GMI	ss284325292	Apr 25, 2013 (138)
22	PJP	ss292546315	May 09, 2011 (134)
23	SSMP	ss649065050	Apr 25, 2013 (138)
24	EVA-GONL	ss976694449	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1069012461	Aug 21, 2014 (142)
26	1000GENOMES	ss1296695301	Aug 21, 2014 (142)
27	HAMMER_LAB	ss1397288223	Sep 08, 2015 (146)
28	DDI	ss1428538709	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1578824139	Apr 01, 2015 (144)
30	EVA_DECODE	ss1586101443	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1603227591	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1646221624	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1796569125	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1919927558	Feb 12, 2016 (147)
35	ILLUMINA	ss1958407273	Feb 12, 2016 (147)
36	GENOMED	ss1968740107	Jul 19, 2016 (147)
37	JJLAB	ss2020494582	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2148538589	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2229146964	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2624760723	Nov 08, 2017 (151)
41	GRF	ss2703100963	Nov 08, 2017 (151)
42	GNOMAD	ss2771935671	Nov 08, 2017 (151)
43	SWEGEN	ss2989293175	Nov 08, 2017 (151)
44	ILLUMINA	ss3021959826	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3024013913	Nov 08, 2017 (151)
46	CSHL	ss3344167338	Nov 08, 2017 (151)
47	ILLUMINA	ss3652389723	Oct 11, 2018 (152)
48	EGCUT_WGS	ss3657253455	Jul 13, 2019 (153)
49	EVA_DECODE	ss3703634150	Jul 13, 2019 (153)
50	ILLUMINA	ss3725774754	Jul 13, 2019 (153)
51	ACPOP	ss3728323271	Jul 13, 2019 (153)
52	EVA	ss3756596439	Jul 13, 2019 (153)
53	PAGE_CC	ss3770910803	Jul 13, 2019 (153)
54	PACBIO	ss3783831273	Jul 13, 2019 (153)
55	PACBIO	ss3789424375	Jul 13, 2019 (153)
56	PACBIO	ss3794297195	Jul 13, 2019 (153)
57	KHV_HUMAN_GENOMES	ss3800974868	Jul 13, 2019 (153)
58	EVA	ss3826918899	Apr 25, 2020 (154)
59	SGDP_PRJ	ss3851997027	Apr 25, 2020 (154)
60	KRGDB	ss3897425729	Apr 25, 2020 (154)
61	KOGIC	ss3947497004	Apr 25, 2020 (154)
62	TOPMED	ss4500918355	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5150749717	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5247596018	Oct 17, 2022 (156)
65	HUGCELL_USP	ss5447842235	Oct 17, 2022 (156)
66	EVA	ss5506359883	Oct 17, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5522566309	Oct 17, 2022 (156)
68	SANFORD_IMAGENETICS	ss5628481532	Oct 17, 2022 (156)
69	TOMMO_GENOMICS	ss5679196393	Oct 17, 2022 (156)
70	YY_MCH	ss5802092319	Oct 17, 2022 (156)
71	EVA	ss5819920712	Oct 17, 2022 (156)
72	EVA	ss5852470677	Oct 17, 2022 (156)
73	EVA	ss5929819343	Oct 17, 2022 (156)
74	EVA	ss5954692324	Oct 17, 2022 (156)
75	EVA	ss5980049412	Oct 17, 2022 (156)
76	1000Genomes	NC_000002.11 - 37133127	Oct 11, 2018 (152)
77	1000Genomes_30x	NC_000002.12 - 36905984	Oct 17, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 37133127	Oct 11, 2018 (152)
79	Genome-wide autozygosity in Daghestan	NC_000002.10 - 36986631	Apr 25, 2020 (154)
80	Genetic variation in the Estonian population	NC_000002.11 - 37133127	Oct 11, 2018 (152)
81	The Danish reference pan genome	NC_000002.11 - 37133127	Apr 25, 2020 (154)
82	gnomAD - Genomes	NC_000002.12 - 36905984	Apr 26, 2021 (155)
83	Genome of the Netherlands Release 5	NC_000002.11 - 37133127	Apr 25, 2020 (154)
84	HapMap	NC_000002.12 - 36905984	Apr 25, 2020 (154)
85	KOREAN population from KRGDB	NC_000002.11 - 37133127	Apr 25, 2020 (154)
86	Korean Genome Project	NC_000002.12 - 36905984	Apr 25, 2020 (154)
87	Northern Sweden	NC_000002.11 - 37133127	Jul 13, 2019 (153)
88	The PAGE Study	NC_000002.12 - 36905984	Jul 13, 2019 (153)
89	Qatari	NC_000002.11 - 37133127	Apr 25, 2020 (154)
90	SGDP_PRJ	NC_000002.11 - 37133127	Apr 25, 2020 (154)
91	Siberian	NC_000002.11 - 37133127	Apr 25, 2020 (154)
92	8.3KJPN	NC_000002.11 - 37133127	Apr 26, 2021 (155)
93	14KJPN	NC_000002.12 - 36905984	Oct 17, 2022 (156)
94	TopMed	NC_000002.12 - 36905984	Apr 26, 2021 (155)
95	UK 10K study - Twins	NC_000002.11 - 37133127	Oct 11, 2018 (152)
96	A Vietnamese Genetic Variation Database	NC_000002.11 - 37133127	Jul 13, 2019 (153)
97	ALFA	NC_000002.12 - 36905984	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
3168715860	NC_000002.12:36905983:C:G	NC_000002.12:36905983:C:G	(self)
238377, ss91122899, ss117660122, ss164175652, ss200286709, ss210865506, ss253036465, ss276422214, ss284325292, ss292546315, ss1397288223, ss1586101443	NC_000002.10:36986630:C:T	NC_000002.12:36905983:C:T	(self)
7623604, 4234337, 2991703, 4998756, 1861884, 4603123, 1608136, 1969488, 4014007, 1054943, 8719024, 4234337, 921672, ss219175612, ss231116817, ss238682847, ss649065050, ss976694449, ss1069012461, ss1296695301, ss1428538709, ss1578824139, ss1603227591, ss1646221624, ss1796569125, ss1919927558, ss1958407273, ss1968740107, ss2020494582, ss2148538589, ss2624760723, ss2703100963, ss2771935671, ss2989293175, ss3021959826, ss3344167338, ss3652389723, ss3657253455, ss3728323271, ss3756596439, ss3783831273, ss3789424375, ss3794297195, ss3826918899, ss3851997027, ss3897425729, ss5150749717, ss5506359883, ss5628481532, ss5819920712, ss5954692324, ss5980049412	NC_000002.11:37133126:C:T	NC_000002.12:36905983:C:T	(self)
10092244, 54105340, 1773313, 3875005, 132272, 13033497, 304741234, 3168715860, ss2229146964, ss3024013913, ss3703634150, ss3725774754, ss3770910803, ss3800974868, ss3947497004, ss4500918355, ss5247596018, ss5447842235, ss5522566309, ss5679196393, ss5802092319, ss5852470677, ss5929819343	NC_000002.12:36905983:C:T	NC_000002.12:36905983:C:T	(self)
ss14497583	NT_022184.13:15949059:C:T	NC_000002.12:36905983:C:T	(self)
ss1396674, ss5353264, ss5353346, ss5648856, ss6430949, ss41583819, ss103474935, ss138422652, ss156919042	NT_022184.15:15955013:C:T	NC_000002.12:36905983:C:T	(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 rs3845778

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

rs3845778