Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chrMT:15907 (GRCh38.p13) 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.

Variation Type
SNV Single Nucleotide Variation
G=0.01137 (890/78294, ALFA)
G=0.003 (2/790, PRJEB37584)
G=0.004 (2/534, MGP) (+ 1 more)
A=0.0 (0/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MT-CYB : 500B Downstream Variant
MT-ND6 : 2KB Upstream Variant
0 citations
Genomic View
See rs on genome

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.

Gene: MT-CYB, mitochondrially encoded cytochrome b (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
MT NC_012920.1:m.15907A>G N/A N/A
MT NC_012920.1:m.15907A>G N/A N/A
Gene: MT-ND6, mitochondrially encoded NADH dehydrogenase 6 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MT NC_012920.1:m.15907A>G N/A N/A
MT NC_012920.1:m.15907A>G N/A N/A

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: 677618 )
ClinVar Accession Disease Names Clinical Significance
RCV000851118.1 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Benign

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 78294 A=0.98863 G=0.01137
European Sub 67952 A=0.98752 G=0.01248
African Sub 1466 A=1.0000 G=0.0000
African Others Sub 60 A=1.00 G=0.00
African American Sub 1406 A=1.0000 G=0.0000
Asian Sub 3238 A=0.9994 G=0.0006
East Asian Sub 2584 A=0.9992 G=0.0008
Other Asian Sub 654 A=1.000 G=0.000
Latin American 1 Sub 290 A=1.000 G=0.000
Latin American 2 Sub 318 A=1.000 G=0.000
South Asian Sub 174 A=0.977 G=0.023
Other Sub 4856 A=0.9926 G=0.0074


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").

Study Population Group Sample Size Ref Allele Alt Allele
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.997 G=0.003
CNV burdens in cranial meningiomas CRM Sub 790 A=0.997 G=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.996 G=0.004
SGDP_PRJ Global Study-wide 4 A=0.0 G=1.0

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
MT NC_012920.1:m.15907= NC_012920.1:m.15907A>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#.

24 SubSNP, 4 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss66863438 Nov 30, 2006 (127)
2 ILLUMINA ss66931966 Nov 30, 2006 (127)
3 ILLUMINA ss68074746 Dec 12, 2006 (127)
4 COMPLETE_GENOMICS ss163709983 Jul 04, 2010 (135)
5 EXOME_CHIP ss491581539 May 04, 2012 (137)
6 ILLUMINA ss532727894 Jul 19, 2016 (147)
7 ILLUMINA ss780786627 Jul 19, 2016 (147)
8 ILLUMINA ss783467222 Jul 19, 2016 (147)
9 EVA_MGP ss1711595138 Jul 19, 2016 (147)
10 ILLUMINA ss1752791209 Jul 19, 2016 (147)
11 ILLUMINA ss1917715538 Jul 19, 2016 (147)
12 ILLUMINA ss1945966648 Jul 19, 2016 (147)
13 ILLUMINA ss1958161503 Jul 19, 2016 (147)
14 ILLUMINA ss2634932752 Oct 12, 2018 (152)
15 SWEGEN ss3020999653 Oct 12, 2018 (152)
16 ILLUMINA ss3022981963 Oct 12, 2018 (152)
17 ILLUMINA ss3640947875 Oct 12, 2018 (152)
18 ILLUMINA ss3645007342 Oct 12, 2018 (152)
19 ILLUMINA ss3653539337 Oct 12, 2018 (152)
20 ILLUMINA ss3726656645 Jul 14, 2019 (153)
21 ILLUMINA ss3745540454 Jul 14, 2019 (153)
22 ILLUMINA ss3773032175 Jul 14, 2019 (153)
23 SGDP_PRJ ss3892820094 Apr 27, 2020 (154)
24 EVA ss3984773994 Apr 27, 2021 (155)
25 Medical Genome Project healthy controls from Spanish population NC_012920.1 - 15907 Apr 27, 2020 (154)
26 CNV burdens in cranial meningiomas NC_012920.1 - 15907 Apr 27, 2021 (155)
27 SGDP_PRJ NC_012920.1 - 15907 Apr 27, 2020 (154)
28 ALFA NC_012920.1 - 15907 Apr 27, 2021 (155)
29 ClinVar RCV000851118.1 Apr 27, 2020 (154)

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)
rs113151127 Sep 17, 2011 (135)
rs369406268 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66863438, ss66931966, ss68074746, ss163709983 NC_001807.4:15907:A:G NC_012920.1:15906:A:G (self)
RCV000851118.1, 710898, 312695, 44837074, 5106199366, ss491581539, ss532727894, ss780786627, ss783467222, ss1711595138, ss1752791209, ss1917715538, ss1945966648, ss1958161503, ss2634932752, ss3020999653, ss3022981963, ss3640947875, ss3645007342, ss3653539337, ss3726656645, ss3745540454, ss3773032175, ss3892820094, ss3984773994 NC_012920.1:15906:A:G NC_012920.1:15906:A: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 rs41383248


The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

No flank sequence available

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.post596+ae089ad