Name: rs111633951
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.

rs111633951

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:89925893 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.060603 (16041/264690, TOPMED)
T=0.055334 (7757/140184, GnomAD)
T=0.03351 (633/18890, ALFA) (+ 11 more)
T=0.0561 (359/6404, 1000G_30x)
T=0.0505 (253/5008, 1000G)
T=0.0031 (14/4480, Estonian)
T=0.0060 (23/3854, ALSPAC)
T=0.0059 (22/3708, TWINSUK)
T=0.005 (5/998, GoNL)
T=0.017 (10/600, NorthernSweden)
T=0.056 (12/216, Qatari)
C=0.42 (11/26, SGDP_PRJ)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MMRN1 : 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=0.96649	T=0.03351
European	Sub	14286	C=0.99160	T=0.00840
African	Sub	2946	C=0.8483	T=0.1517
African Others	Sub	114	C=0.851	T=0.149
African American	Sub	2832	C=0.8482	T=0.1518
Asian	Sub	112	C=1.000	T=0.000
East Asian	Sub	86	C=1.00	T=0.00
Other Asian	Sub	26	C=1.00	T=0.00
Latin American 1	Sub	146	C=0.938	T=0.062
Latin American 2	Sub	610	C=0.969	T=0.031
South Asian	Sub	98	C=0.99	T=0.01
Other	Sub	692	C=0.947	T=0.053

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=0.939397	T=0.060603
gnomAD - Genomes	Global	Study-wide	140184	C=0.944666	T=0.055334
gnomAD - Genomes	European	Sub	75940	C=0.99336	T=0.00664
gnomAD - Genomes	African	Sub	41994	C=0.84607	T=0.15393
gnomAD - Genomes	American	Sub	13646	C=0.96270	T=0.03730
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9513	T=0.0487
gnomAD - Genomes	East Asian	Sub	3128	C=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2152	C=0.9456	T=0.0544
Allele Frequency Aggregator	Total	Global	18890	C=0.96649	T=0.03351
Allele Frequency Aggregator	European	Sub	14286	C=0.99160	T=0.00840
Allele Frequency Aggregator	African	Sub	2946	C=0.8483	T=0.1517
Allele Frequency Aggregator	Other	Sub	692	C=0.947	T=0.053
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.969	T=0.031
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.938	T=0.062
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.99	T=0.01
1000Genomes_30x	Global	Study-wide	6404	C=0.9439	T=0.0561
1000Genomes_30x	African	Sub	1786	C=0.8309	T=0.1691
1000Genomes_30x	Europe	Sub	1266	C=0.9889	T=0.0111
1000Genomes_30x	South Asian	Sub	1202	C=0.9892	T=0.0108
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.969	T=0.031
1000Genomes	Global	Study-wide	5008	C=0.9495	T=0.0505
1000Genomes	African	Sub	1322	C=0.8442	T=0.1558
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9891	T=0.0109
1000Genomes	South Asian	Sub	978	C=0.989	T=0.011
1000Genomes	American	Sub	694	C=0.964	T=0.036
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9969	T=0.0031
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9940	T=0.0060
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9941	T=0.0059
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.995	T=0.005
Northern Sweden	ACPOP	Study-wide	600	C=0.983	T=0.017
Qatari	Global	Study-wide	216	C=0.944	T=0.056
SGDP_PRJ	Global	Study-wide	26	C=0.42	T=0.58
Siberian	Global	Study-wide	2	C=0.5	T=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 4	NC_000004.12:g.89925893C>T
GRCh37.p13 chr 4	NC_000004.11:g.90847044C>T
MMRN1 RefSeqGene (LRG_634)	NG_032895.2:g.51362C>T

Gene: MMRN1, multimerin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MMRN1 transcript variant 1	NM_001371403.1:c.956-1902… NM_001371403.1:c.956-1902C>T	N/A	Intron Variant
MMRN1 transcript variant 2	NM_007351.3:c.956-1902C>T	N/A	Intron Variant
MMRN1 transcript variant X1	XM_047449831.1:c.851-1902… XM_047449831.1:c.851-1902C>T	N/A	Intron Variant
MMRN1 transcript variant X2	XM_047449832.1:c.182-1902… XM_047449832.1:c.182-1902C>T	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=	T
GRCh38.p14 chr 4	NC_000004.12:g.89925893=	NC_000004.12:g.89925893C>T
GRCh37.p13 chr 4	NC_000004.11:g.90847044=	NC_000004.11:g.90847044C>T
MMRN1 RefSeqGene (LRG_634)	NG_032895.2:g.51362=	NG_032895.2:g.51362C>T
MMRN1 transcript variant 1	NM_001371403.1:c.956-1902=	NM_001371403.1:c.956-1902C>T
MMRN1 transcript	NM_007351.2:c.956-1902=	NM_007351.2:c.956-1902C>T
MMRN1 transcript variant 2	NM_007351.3:c.956-1902=	NM_007351.3:c.956-1902C>T
MMRN1 transcript variant X1	XM_005262856.1:c.851-1902=	XM_005262856.1:c.851-1902C>T
MMRN1 transcript variant X2	XM_005262857.1:c.854-1902=	XM_005262857.1:c.854-1902C>T
MMRN1 transcript variant X1	XM_047449831.1:c.851-1902=	XM_047449831.1:c.851-1902C>T
MMRN1 transcript variant X2	XM_047449832.1:c.182-1902=	XM_047449832.1:c.182-1902C>T

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#.

31 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss198841559	Jul 04, 2010 (132)
2	1000GENOMES	ss221063308	Jul 14, 2010 (132)
3	TISHKOFF	ss557679665	Apr 25, 2013 (138)
4	EVA-GONL	ss980376465	Aug 21, 2014 (142)
5	JMKIDD_LAB	ss1071734413	Aug 21, 2014 (142)
6	1000GENOMES	ss1310717243	Aug 21, 2014 (142)
7	EVA_DECODE	ss1589878896	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1610597176	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1653591209	Apr 01, 2015 (144)
10	HAMMER_LAB	ss1801821399	Sep 08, 2015 (146)
11	WEILL_CORNELL_DGM	ss1923620383	Feb 12, 2016 (147)
12	USC_VALOUEV	ss2150525220	Dec 20, 2016 (150)
13	HUMAN_LONGEVITY	ss2264866317	Dec 20, 2016 (150)
14	GNOMAD	ss2812091835	Nov 08, 2017 (151)
15	SWEGEN	ss2995101261	Nov 08, 2017 (151)
16	EGCUT_WGS	ss3662989303	Jul 13, 2019 (153)
17	EVA_DECODE	ss3712527971	Jul 13, 2019 (153)
18	ACPOP	ss3731364588	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3805238010	Jul 13, 2019 (153)
20	EVA	ss3828670860	Apr 26, 2020 (154)
21	SGDP_PRJ	ss3859472636	Apr 26, 2020 (154)
22	TOPMED	ss4622283157	Apr 26, 2021 (155)
23	1000G_HIGH_COVERAGE	ss5260057270	Oct 13, 2022 (156)
24	EVA	ss5350552891	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5458725677	Oct 13, 2022 (156)
26	EVA	ss5507613673	Oct 13, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5541590580	Oct 13, 2022 (156)
28	SANFORD_IMAGENETICS	ss5635532256	Oct 13, 2022 (156)
29	EVA	ss5844331862	Oct 13, 2022 (156)
30	EVA	ss5864417284	Oct 13, 2022 (156)
31	EVA	ss5963917266	Oct 13, 2022 (156)
32	1000Genomes	NC_000004.11 - 90847044	Oct 12, 2018 (152)
33	1000Genomes_30x	NC_000004.12 - 89925893	Oct 13, 2022 (156)
34	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 90847044	Oct 12, 2018 (152)
35	Genetic variation in the Estonian population	NC_000004.11 - 90847044	Oct 12, 2018 (152)
36	gnomAD - Genomes	NC_000004.12 - 89925893	Apr 26, 2021 (155)
37	Genome of the Netherlands Release 5	NC_000004.11 - 90847044	Apr 26, 2020 (154)
38	Northern Sweden	NC_000004.11 - 90847044	Jul 13, 2019 (153)
39	Qatari	NC_000004.11 - 90847044	Apr 26, 2020 (154)
40	SGDP_PRJ	NC_000004.11 - 90847044	Apr 26, 2020 (154)
41	Siberian	NC_000004.11 - 90847044	Apr 26, 2020 (154)
42	TopMed	NC_000004.12 - 89925893	Apr 26, 2021 (155)
43	UK 10K study - Twins	NC_000004.11 - 90847044	Oct 12, 2018 (152)
44	ALFA	NC_000004.12 - 89925893	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
ss198841559, ss1589878896	NC_000004.10:91066066:C:T	NC_000004.12:89925892:C:T	(self)
22149227, 12320078, 8727551, 5441565, 4649453, 5662313, 11489616, 3041574, 12320078, ss221063308, ss557679665, ss980376465, ss1071734413, ss1310717243, ss1610597176, ss1653591209, ss1801821399, ss1923620383, ss2150525220, ss2812091835, ss2995101261, ss3662989303, ss3731364588, ss3828670860, ss3859472636, ss5350552891, ss5507613673, ss5635532256, ss5844331862, ss5963917266	NC_000004.11:90847043:C:T	NC_000004.12:89925892:C:T	(self)
29116515, 156872000, 459660713, 591467962, ss2264866317, ss3712527971, ss3805238010, ss4622283157, ss5260057270, ss5458725677, ss5541590580, ss5864417284	NC_000004.12:89925892:C:T	NC_000004.12:89925892: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 rs111633951

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

rs111633951