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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chrMT:15244 (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=0.0071 (67/9462, ALFA)
G=0.0111 (93/8380, 8.3KJPN)
G=0.0110 (32/2922, KOREAN) (+ 4 more)
G=0.0087 (18/2060, HGDP_Stanford)
G=0.008 (6/792, PRJEB37584)
G=0.007 (4/534, MGP)
A=0.0 (0/10, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MT-CYB : Synonymous 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-ND6, mitochondrially encoded NADH dehydrogenase 6 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MT NC_012920.1:m.15244A>G G [GGA] > G [GGG] Coding Sequence Variant
cytochrome b YP_003024038.1:p.Gly166= G (Gly) > G (Gly) Synonymous Variant
MT NC_012920.1:m.15244A>G N/A N/A
Gene: MT-CYB, mitochondrially encoded cytochrome b (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MT NC_012920.1:m.15244A>G G [GGA] > G [GGG] Coding Sequence Variant
cytochrome b YP_003024038.1:p.Gly166= G (Gly) > G (Gly) Synonymous Variant
MT NC_012920.1:m.15244A>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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 9462 A=0.9929 G=0.0071
European Sub 6058 A=0.9982 G=0.0018
African Sub 1020 A=0.9529 G=0.0471
African Others Sub 8 A=1.0 G=0.0
African American Sub 1012 A=0.9526 G=0.0474
Asian Sub 56 A=0.96 G=0.04
East Asian Sub 26 A=1.00 G=0.00
Other Asian Sub 30 A=0.93 G=0.07
Latin American 1 Sub 0 A=0 G=0
Latin American 2 Sub 0 A=0 G=0
South Asian Sub 0 A=0 G=0
Other Sub 2328 A=0.9974 G=0.0026


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
8.3KJPN JAPANESE Study-wide 8380 A=0.9889 G=0.0111
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9890 G=0.0110
HGDP-CEPH-db Supplement 1 Global Study-wide 2060 A=0.9913 G=0.0087
HGDP-CEPH-db Supplement 1 Est_Asia Sub 464 A=0.991 G=0.009
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 412 A=0.995 G=0.005
HGDP-CEPH-db Supplement 1 Middle_Est Sub 340 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Europe Sub 318 A=0.987 G=0.013
HGDP-CEPH-db Supplement 1 Africa Sub 240 A=0.975 G=0.025
HGDP-CEPH-db Supplement 1 America Sub 214 A=0.991 G=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.992 G=0.008
CNV burdens in cranial meningiomas CRM Sub 792 A=0.992 G=0.008
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.993 G=0.007
SGDP_PRJ Global Study-wide 10 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.15244= NC_012920.1:m.15244A>G
cytochrome b YP_003024038.1:p.Gly166= YP_003024038.1:p.Gly166=

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#.

27 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35092540 May 24, 2005 (125)
2 BROAD ss37044478 May 24, 2005 (125)
3 ILLUMINA ss66863435 Dec 01, 2006 (127)
4 ILLUMINA ss66931960 Dec 01, 2006 (127)
5 ILLUMINA ss68074743 Dec 12, 2006 (130)
6 PERLEGEN ss69268994 May 17, 2007 (127)
7 ILLUMINA ss70458796 May 25, 2008 (130)
8 ILLUMINA ss70979336 May 17, 2007 (127)
9 ILLUMINA ss75912265 Dec 07, 2007 (129)
10 AFFY ss76713511 Dec 07, 2007 (129)
11 ILLUMINA ss152536595 Dec 01, 2009 (131)
12 ILLUMINA ss159102668 Dec 01, 2009 (131)
13 ILLUMINA ss169133726 Jul 04, 2010 (135)
14 ILLUMINA ss410884089 Sep 27, 2011 (147)
15 ILLUMINA ss536559242 Mar 15, 2016 (147)
16 SSMP ss662652993 May 31, 2013 (142)
17 EVA_MGP ss1711595096 Jul 19, 2016 (147)
18 AFFY ss2986125626 Oct 12, 2018 (152)
19 SWEGEN ss3020999575 Oct 12, 2018 (152)
20 ILLUMINA ss3022981918 Oct 12, 2018 (152)
21 ILLUMINA ss3653539294 Oct 12, 2018 (152)
22 ILLUMINA ss3726656601 Jul 14, 2019 (153)
23 HGDP ss3847966502 Apr 27, 2020 (154)
24 SGDP_PRJ ss3892820010 Apr 27, 2020 (154)
25 KRGDB ss3892822269 Apr 27, 2020 (154)
26 EVA ss3984773958 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5236852927 Apr 27, 2021 (155)
28 HGDP-CEPH-db Supplement 1 NC_001807.4 - 15245 Apr 27, 2020 (154)
29 KOREAN population from KRGDB NC_001807.4 - 15245 Apr 27, 2020 (154)
30 Medical Genome Project healthy controls from Spanish population NC_012920.1 - 15244 Apr 27, 2020 (154)
31 CNV burdens in cranial meningiomas NC_012920.1 - 15244 Apr 27, 2021 (155)
32 SGDP_PRJ NC_012920.1 - 15244 Apr 27, 2020 (154)
33 8.3KJPN NC_012920.1 - 15244 Apr 27, 2021 (155)
34 ALFA NC_012920.1 - 15244 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)
rs41556517 May 25, 2008 (130)
rs113930504 Sep 17, 2011 (135)
rs193302990 Feb 12, 2016 (147)
rs386508197 Jul 01, 2015 (144)
rs386829240 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
644394, 50801319, ss35092540, ss37044478, ss66863435, ss66931960, ss68074743, ss69268994, ss70458796, ss70979336, ss75912265, ss662652993, ss3847966502, ss3892822269 NC_001807.4:15244:A:G NC_012920.1:15243:A:G (self)
710856, 312659, 44836990, 94822234, 16596822621, ss76713511, ss152536595, ss159102668, ss169133726, ss410884089, ss536559242, ss1711595096, ss2986125626, ss3020999575, ss3022981918, ss3653539294, ss3726656601, ss3892820010, ss3984773958, ss5236852927 NC_012920.1:15243:A:G NC_012920.1:15243: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 rs28357369


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