Name: rs11039194
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.

rs11039194

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:47353377 (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=0.225260 (59624/264690, TOPMED)
G=0.223205 (31084/139262, GnomAD)
G=0.42873 (12115/28258, 14KJPN) (+ 15 more)
G=0.18163 (3431/18890, ALFA)
G=0.42559 (7132/16758, 8.3KJPN)
G=0.2527 (1618/6404, 1000G_30x)
G=0.2514 (1259/5008, 1000G)
G=0.1647 (738/4480, Estonian)
G=0.1440 (555/3854, ALSPAC)
G=0.1408 (522/3708, TWINSUK)
G=0.4177 (1223/2928, KOREAN)
G=0.3974 (728/1832, Korea1K)
G=0.185 (111/600, NorthernSweden)
G=0.167 (36/216, Qatari)
C=0.387 (82/212, SGDP_PRJ)
G=0.281 (59/210, Vietnamese)
G=0.20 (8/40, GENOME_DK)
C=0.38 (10/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MYBPC3 : 2KB Upstream 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=0.81837	G=0.18163
European	Sub	14286	C=0.85692	G=0.14308
African	Sub	2946	C=0.6633	G=0.3367
African Others	Sub	114	C=0.544	G=0.456
African American	Sub	2832	C=0.6681	G=0.3319
Asian	Sub	112	C=0.759	G=0.241
East Asian	Sub	86	C=0.70	G=0.30
Other Asian	Sub	26	C=0.96	G=0.04
Latin American 1	Sub	146	C=0.829	G=0.171
Latin American 2	Sub	610	C=0.711	G=0.289
South Asian	Sub	98	C=0.86	G=0.14
Other	Sub	692	C=0.779	G=0.221

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=0.774740	G=0.225260
gnomAD - Genomes	Global	Study-wide	139262	C=0.776795	G=0.223205
gnomAD - Genomes	European	Sub	75588	C=0.84418	G=0.15582
gnomAD - Genomes	African	Sub	41580	C=0.65462	G=0.34538
gnomAD - Genomes	American	Sub	13524	C=0.76900	G=0.23100
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	C=0.8654	G=0.1346
gnomAD - Genomes	East Asian	Sub	3122	C=0.6970	G=0.3030
gnomAD - Genomes	Other	Sub	2134	C=0.7990	G=0.2010
14KJPN	JAPANESE	Study-wide	28258	C=0.57127	G=0.42873
Allele Frequency Aggregator	Total	Global	18890	C=0.81837	G=0.18163
Allele Frequency Aggregator	European	Sub	14286	C=0.85692	G=0.14308
Allele Frequency Aggregator	African	Sub	2946	C=0.6633	G=0.3367
Allele Frequency Aggregator	Other	Sub	692	C=0.779	G=0.221
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.711	G=0.289
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.829	G=0.171
Allele Frequency Aggregator	Asian	Sub	112	C=0.759	G=0.241
Allele Frequency Aggregator	South Asian	Sub	98	C=0.86	G=0.14
8.3KJPN	JAPANESE	Study-wide	16758	C=0.57441	G=0.42559
1000Genomes_30x	Global	Study-wide	6404	C=0.7473	G=0.2527
1000Genomes_30x	African	Sub	1786	C=0.6030	G=0.3970
1000Genomes_30x	Europe	Sub	1266	C=0.8531	G=0.1469
1000Genomes_30x	South Asian	Sub	1202	C=0.8702	G=0.1298
1000Genomes_30x	East Asian	Sub	1170	C=0.6838	G=0.3162
1000Genomes_30x	American	Sub	980	C=0.799	G=0.201
1000Genomes	Global	Study-wide	5008	C=0.7486	G=0.2514
1000Genomes	African	Sub	1322	C=0.6120	G=0.3880
1000Genomes	East Asian	Sub	1008	C=0.6796	G=0.3204
1000Genomes	Europe	Sub	1006	C=0.8529	G=0.1471
1000Genomes	South Asian	Sub	978	C=0.867	G=0.133
1000Genomes	American	Sub	694	C=0.791	G=0.209
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8353	G=0.1647
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8560	G=0.1440
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8592	G=0.1408
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.5823	G=0.4177
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6026	G=0.3974
Northern Sweden	ACPOP	Study-wide	600	C=0.815	G=0.185
Qatari	Global	Study-wide	216	C=0.833	G=0.167
SGDP_PRJ	Global	Study-wide	212	C=0.387	G=0.613
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.719	G=0.281
The Danish reference pan genome	Danish	Study-wide	40	C=0.80	G=0.20
Siberian	Global	Study-wide	26	C=0.38	G=0.62

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 11	NC_000011.10:g.47353377C>G
GRCh37.p13 chr 11	NC_000011.9:g.47374928C>G
MYBPC3 RefSeqGene (LRG_386)	NG_007667.1:g.4326G>C

Gene: MYBPC3, myosin binding protein C3 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MYBPC3 transcript	NM_000256.3:c.	N/A	Upstream 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 11	NC_000011.10:g.47353377=	NC_000011.10:g.47353377C>G
GRCh37.p13 chr 11	NC_000011.9:g.47374928=	NC_000011.9:g.47374928C>G
MYBPC3 RefSeqGene (LRG_386)	NG_007667.1:g.4326=	NG_007667.1:g.4326G>C

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#.

55 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss16341798	Feb 28, 2004 (123)
2	CSHL-HAPMAP	ss17445401	Feb 27, 2004 (120)
3	SC_SNP	ss18730438	Feb 27, 2004 (120)
4	BGI	ss102961840	Dec 01, 2009 (131)
5	ILLUMINA-UK	ss119833351	Dec 01, 2009 (131)
6	ENSEMBL	ss161428999	Dec 01, 2009 (131)
7	BCM-HGSC-SUB	ss207843191	Jul 04, 2010 (132)
8	1000GENOMES	ss225236595	Jul 14, 2010 (132)
9	1000GENOMES	ss235551501	Jul 15, 2010 (132)
10	1000GENOMES	ss242186952	Jul 15, 2010 (132)
11	BL	ss255105616	May 09, 2011 (134)
12	GMI	ss280991004	May 04, 2012 (137)
13	TISHKOFF	ss562553663	Apr 25, 2013 (138)
14	SSMP	ss658048587	Apr 25, 2013 (138)
15	EVA-GONL	ss988495539	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1077714417	Aug 21, 2014 (142)
17	1000GENOMES	ss1341166485	Aug 21, 2014 (142)
18	DDI	ss1426624539	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1575694898	Apr 01, 2015 (144)
20	EVA_DECODE	ss1598171373	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1626548404	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1669542437	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1806812817	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1931852097	Feb 12, 2016 (147)
25	JJLAB	ss2026673435	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2154965810	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2182358933	Dec 20, 2016 (150)
28	SYSTEMSBIOZJU	ss2627810050	Nov 08, 2017 (151)
29	GRF	ss2699249452	Nov 08, 2017 (151)
30	GNOMAD	ss2899283651	Nov 08, 2017 (151)
31	SWEGEN	ss3008026079	Nov 08, 2017 (151)
32	BIOINF_KMB_FNS_UNIBA	ss3027136326	Nov 08, 2017 (151)
33	CSHL	ss3349579288	Nov 08, 2017 (151)
34	EGCUT_WGS	ss3675435434	Jul 13, 2019 (153)
35	EVA_DECODE	ss3691733210	Jul 13, 2019 (153)
36	ACPOP	ss3738157217	Jul 13, 2019 (153)
37	EVA	ss3749267316	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3814614024	Jul 13, 2019 (153)
39	EVA	ss3832616864	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3876194844	Apr 26, 2020 (154)
41	KRGDB	ss3924471210	Apr 26, 2020 (154)
42	KOGIC	ss3969720255	Apr 26, 2020 (154)
43	TOPMED	ss4884364008	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5201850974	Apr 27, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5287313680	Oct 16, 2022 (156)
46	EVA	ss5399413705	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5482527165	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5582924355	Oct 16, 2022 (156)
49	SANFORD_IMAGENETICS	ss5651166923	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5748937549	Oct 16, 2022 (156)
51	YY_MCH	ss5812360293	Oct 16, 2022 (156)
52	EVA	ss5836622738	Oct 16, 2022 (156)
53	EVA	ss5849972853	Oct 16, 2022 (156)
54	EVA	ss5919882151	Oct 16, 2022 (156)
55	EVA	ss5942486747	Oct 16, 2022 (156)
56	1000Genomes	NC_000011.9 - 47374928	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000011.10 - 47353377	Oct 16, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 47374928	Oct 12, 2018 (152)
59	Genetic variation in the Estonian population	NC_000011.9 - 47374928	Oct 12, 2018 (152)
60	The Danish reference pan genome	NC_000011.9 - 47374928	Apr 26, 2020 (154)
61	gnomAD - Genomes	NC_000011.10 - 47353377	Apr 27, 2021 (155)
62	KOREAN population from KRGDB	NC_000011.9 - 47374928	Apr 26, 2020 (154)
63	Korean Genome Project	NC_000011.10 - 47353377	Apr 26, 2020 (154)
64	Northern Sweden	NC_000011.9 - 47374928	Jul 13, 2019 (153)
65	Qatari	NC_000011.9 - 47374928	Apr 26, 2020 (154)
66	SGDP_PRJ	NC_000011.9 - 47374928	Apr 26, 2020 (154)
67	Siberian	NC_000011.9 - 47374928	Apr 26, 2020 (154)
68	8.3KJPN	NC_000011.9 - 47374928	Apr 27, 2021 (155)
69	14KJPN	NC_000011.10 - 47353377	Oct 16, 2022 (156)
70	TopMed	NC_000011.10 - 47353377	Apr 27, 2021 (155)
71	UK 10K study - Twins	NC_000011.9 - 47374928	Oct 12, 2018 (152)
72	A Vietnamese Genetic Variation Database	NC_000011.9 - 47374928	Jul 13, 2019 (153)
73	ALFA	NC_000011.10 - 47353377	Apr 27, 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)
rs11570038	Sep 24, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss119833351, ss207843191, ss255105616, ss280991004, ss1598171373	NC_000011.8:47331503:C:G	NC_000011.10:47353376:C:G	(self)
53687613, 29829758, 21173682, 2556327, 31648604, 11442082, 13894027, 28211824, 7482164, 59820281, 29829758, 6626921, ss225236595, ss235551501, ss242186952, ss562553663, ss658048587, ss988495539, ss1077714417, ss1341166485, ss1426624539, ss1575694898, ss1626548404, ss1669542437, ss1806812817, ss1931852097, ss2026673435, ss2154965810, ss2627810050, ss2699249452, ss2899283651, ss3008026079, ss3349579288, ss3675435434, ss3738157217, ss3749267316, ss3832616864, ss3876194844, ss3924471210, ss5201850974, ss5399413705, ss5651166923, ss5836622738, ss5942486747	NC_000011.9:47374927:C:G	NC_000011.10:47353376:C:G	(self)
70450290, 378916236, 26098256, 82774653, 99909664, 13672599092, ss2182358933, ss3027136326, ss3691733210, ss3814614024, ss3969720255, ss4884364008, ss5287313680, ss5482527165, ss5582924355, ss5748937549, ss5812360293, ss5849972853, ss5919882151	NC_000011.10:47353376:C:G	NC_000011.10:47353376:C:G	(self)
ss17445401, ss18730438	NT_009237.16:46138867:C:G	NC_000011.10:47353376:C:G	(self)
ss16341798, ss102961840, ss161428999	NT_009237.18:47314927:C:G	NC_000011.10:47353376: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 rs11039194

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

rs11039194