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dbSNP Short Genetic Variations

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.

rs370996115

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:102948042 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000019 (5/264690, TOPMED)
G=0.000024 (6/248006, GnomAD_exome)
G=0.000036 (5/140184, GnomAD) (+ 3 more)
G=0.000017 (2/117810, ExAC)
G=0.00011 (5/44416, ALFA)
G=0.00008 (1/13002, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MMP13 : Missense 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 60380 A=0.99990 G=0.00010
European Sub 42426 A=0.99988 G=0.00012
African Sub 8304 A=0.9999 G=0.0001
African Others Sub 304 A=1.000 G=0.000
African American Sub 8000 A=0.9999 G=0.0001
Asian Sub 168 A=1.000 G=0.000
East Asian Sub 112 A=1.000 G=0.000
Other Asian Sub 56 A=1.00 G=0.00
Latin American 1 Sub 500 A=1.000 G=0.000
Latin American 2 Sub 628 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 8256 A=1.0000 G=0.0000


Help

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 A=0.999981 G=0.000019
gnomAD - Exomes Global Study-wide 248006 A=0.999976 G=0.000024
gnomAD - Exomes European Sub 132232 A=0.999970 G=0.000030
gnomAD - Exomes Asian Sub 48930 A=0.99996 G=0.00004
gnomAD - Exomes American Sub 34504 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16226 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10046 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6068 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140184 A=0.999964 G=0.000036
gnomAD - Genomes European Sub 75928 A=0.99997 G=0.00003
gnomAD - Genomes African Sub 42018 A=0.99995 G=0.00005
gnomAD - Genomes American Sub 13628 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 A=0.9997 G=0.0003
gnomAD - Genomes Other Sub 2154 A=1.0000 G=0.0000
ExAC Global Study-wide 117810 A=0.999983 G=0.000017
ExAC Europe Sub 71044 A=0.99999 G=0.00001
ExAC Asian Sub 24540 A=0.99996 G=0.00004
ExAC American Sub 11204 A=1.00000 G=0.00000
ExAC African Sub 10132 A=1.00000 G=0.00000
ExAC Other Sub 890 A=1.000 G=0.000
Allele Frequency Aggregator Total Global 44416 A=0.99989 G=0.00011
Allele Frequency Aggregator European Sub 32648 A=0.99985 G=0.00015
Allele Frequency Aggregator Other Sub 6862 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 3512 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 168 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 13002 A=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8598 A=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4404 A=1.0000 G=0.0000
Help

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.102948042A>G
GRCh37.p13 chr 11 NC_000011.9:g.102818771A>G
MMP13 RefSeqGene NG_021404.1:g.12693T>C
GRCh37.p13 chr 11 fix patch HG305_PATCH NW_003871077.1:g.116276A>G
Gene: MMP13, matrix metallopeptidase 13 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MMP13 transcript NM_002427.4:c.1060T>C F [TTT] > L [CTT] Coding Sequence Variant
collagenase 3 preproprotein NP_002418.1:p.Phe354Leu F (Phe) > L (Leu) Missense Variant
Help

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.

Allele: G (allele ID: 1470798 )
ClinVar Accession Disease Names Clinical Significance
RCV001925399.3 not provided Uncertain-Significance
Help

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 A= G
GRCh38.p14 chr 11 NC_000011.10:g.102948042= NC_000011.10:g.102948042A>G
GRCh37.p13 chr 11 NC_000011.9:g.102818771= NC_000011.9:g.102818771A>G
MMP13 RefSeqGene NG_021404.1:g.12693= NG_021404.1:g.12693T>C
MMP13 transcript NM_002427.4:c.1060= NM_002427.4:c.1060T>C
MMP13 transcript NM_002427.3:c.1060= NM_002427.3:c.1060T>C
GRCh37.p13 chr 11 fix patch HG305_PATCH NW_003871077.1:g.116276= NW_003871077.1:g.116276A>G
collagenase 3 preproprotein NP_002418.1:p.Phe354= NP_002418.1:p.Phe354Leu
Help

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#.

9 SubSNP, 6 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713045419 Apr 25, 2013 (138)
2 EVA_EXAC ss1690608914 Apr 09, 2015 (144)
3 HUMAN_LONGEVITY ss2185218905 Dec 20, 2016 (150)
4 GNOMAD ss2739350657 Oct 12, 2018 (152)
5 GNOMAD ss2748728534 Oct 12, 2018 (152)
6 GNOMAD ss2903797285 Oct 12, 2018 (152)
7 EVA ss3824666407 Apr 26, 2020 (154)
8 GNOMAD ss4241487377 Apr 26, 2021 (155)
9 TOPMED ss4897911133 Apr 26, 2021 (155)
10 ExAC NC_000011.9 - 102818771 Oct 12, 2018 (152)
11 gnomAD - Genomes NC_000011.10 - 102948042 Apr 26, 2021 (155)
12 gnomAD - Exomes NC_000011.9 - 102818771 Jul 13, 2019 (153)
13 GO Exome Sequencing Project NC_000011.9 - 102818771 Oct 12, 2018 (152)
14 TopMed NC_000011.10 - 102948042 Apr 26, 2021 (155)
15 ALFA NC_000011.10 - 102948042 Apr 26, 2021 (155)
16 ClinVar RCV001925399.3 Oct 16, 2022 (156)
Help

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
882775, 8568372, 1123953, ss713045419, ss1690608914, ss2739350657, ss2748728534, ss2903797285, ss3824666407 NC_000011.9:102818770:A:G NC_000011.10:102948041:A:G (self)
RCV001925399.3, 390269898, 113456789, 7101817947, ss2185218905, ss4241487377, ss4897911133 NC_000011.10:102948041:A:G NC_000011.10:102948041:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs370996115

Help

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.

Software version is: 2.0.1.post761+d5e8e07