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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.

rs527236193

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chrMT:15758 (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.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.012996 (1877/144428, ALFA)
G=0.0115 (96/8380, 8.3KJPN)
G=0.0079 (23/2922, KOREAN) (+ 4 more)
G=0.0096 (20/2082, HGDP_Stanford)
G=0.0071 (8/1122, Daghestan)
G=0.015 (12/788, PRJEB37584)
A=0.0 (0/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MT-CYB : Missense Variant
MT-ND6 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome
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.

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.15758A>G I [ATC] > V [GTC] Coding Sequence Variant
cytochrome b YP_003024038.1:p.Ile338Val I (Ile) > V (Val) Missense Variant
MT NC_012920.1:m.15758A>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.15758A>G I [ATC] > V [GTC] Coding Sequence Variant
cytochrome b YP_003024038.1:p.Ile338Val I (Ile) > V (Val) Missense Variant
MT NC_012920.1:m.15758A>G N/A N/A
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: 153623 )
ClinVar Accession Disease Names Clinical Significance
RCV000133437.1 Familial cancer of breast Likely-Pathogenic
RCV000855365.1 Leigh syndrome Benign

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 144428 A=0.987004 G=0.012996
European Sub 124904 A=0.986366 G=0.013634
African Sub 1920 A=0.9948 G=0.0052
African Others Sub 60 A=1.00 G=0.00
African American Sub 1860 A=0.9946 G=0.0054
Asian Sub 6232 A=0.9917 G=0.0083
East Asian Sub 4418 A=0.9914 G=0.0086
Other Asian Sub 1814 A=0.9923 G=0.0077
Latin American 1 Sub 294 A=1.000 G=0.000
Latin American 2 Sub 334 A=0.994 G=0.006
South Asian Sub 176 A=0.989 G=0.011
Other Sub 10568 A=0.98978 G=0.01022


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").

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Study Population Group Sample Size Ref Allele Alt Allele
8.3KJPN JAPANESE Study-wide 8380 A=0.9885 G=0.0115
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9921 G=0.0079
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 A=0.9904 G=0.0096
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 A=0.996 G=0.004
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.971 G=0.029
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.983 G=0.017
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1122 A=0.9929 G=0.0071
Genome-wide autozygosity in Daghestan Daghestan Sub 618 A=0.994 G=0.006
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=1.000 G=0.000
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.967 G=0.033
Genome-wide autozygosity in Daghestan Europe Sub 106 A=1.000 G=0.000
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=1.00 G=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 34 A=1.00 G=0.00
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.985 G=0.015
CNV burdens in cranial meningiomas CRM Sub 788 A=0.985 G=0.015
SGDP_PRJ Global Study-wide 4 A=0.0 G=1.0
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
MT NC_012920.1:m.15758= NC_012920.1:m.15758A>G
cytochrome b YP_003024038.1:p.Ile338= YP_003024038.1:p.Ile338Val
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#.

43 SubSNP, 7 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss66863437 Nov 29, 2006 (136)
2 ILLUMINA ss66931964 Nov 29, 2006 (136)
3 ILLUMINA ss68074745 Dec 12, 2006 (136)
4 ILLUMINA ss70458798 May 23, 2008 (136)
5 ILLUMINA ss70979338 May 16, 2007 (136)
6 ILLUMINA ss75923280 Dec 06, 2007 (136)
7 ILLUMINA ss152536605 Dec 01, 2009 (136)
8 ILLUMINA ss159102670 Dec 01, 2009 (136)
9 ILLUMINA ss169133757 Jul 04, 2010 (136)
10 ILLUMINA ss479152853 May 04, 2012 (136)
11 ILLUMINA ss484376877 May 04, 2012 (136)
12 EXOME_CHIP ss491581530 May 04, 2012 (136)
13 ILLUMINA ss536559244 Jul 19, 2016 (147)
14 ILLUMINA ss780684894 Jul 19, 2016 (147)
15 ILLUMINA ss782634733 Oct 12, 2018 (152)
16 ILLUMINA ss783358367 Jul 19, 2016 (147)
17 ILLUMINA ss832615466 Jul 14, 2019 (153)
18 ILLUMINA ss836124381 Oct 12, 2018 (152)
19 MANISHAMVMBHOPAL ss1261355396 Aug 14, 2014 (141)
20 HAMMER_LAB ss1397805599 Oct 12, 2018 (152)
21 ILLUMINA ss1752791201 Jul 19, 2016 (147)
22 ILLUMINA ss1917715530 Jul 19, 2016 (147)
23 ILLUMINA ss1958161489 Jul 19, 2016 (147)
24 ILLUMINA ss2634932745 Oct 12, 2018 (152)
25 ILLUMINA ss2711176169 Oct 12, 2018 (152)
26 AFFY ss2986125631 Oct 12, 2018 (152)
27 SWEGEN ss3020999633 Oct 12, 2018 (152)
28 ILLUMINA ss3022981948 Oct 12, 2018 (152)
29 ILLUMINA ss3630385205 Oct 12, 2018 (152)
30 ILLUMINA ss3635240407 Oct 12, 2018 (152)
31 ILLUMINA ss3640947867 Oct 12, 2018 (152)
32 ILLUMINA ss3645007331 Oct 12, 2018 (152)
33 ILLUMINA ss3653539322 Oct 12, 2018 (152)
34 ILLUMINA ss3726656630 Jul 14, 2019 (153)
35 ILLUMINA ss3744596950 Jul 14, 2019 (153)
36 ILLUMINA ss3745540446 Jul 14, 2019 (153)
37 ILLUMINA ss3773032167 Jul 14, 2019 (153)
38 HGDP ss3847966507 Apr 27, 2020 (154)
39 SGDP_PRJ ss3892820067 Apr 27, 2020 (154)
40 KRGDB ss3892822359 Apr 27, 2020 (154)
41 EVA ss3984773984 Apr 27, 2021 (155)
42 TOMMO_GENOMICS ss5236853067 Apr 27, 2021 (155)
43 EVA ss5237630464 Apr 27, 2021 (155)
44 Genome-wide autozygosity in Daghestan NC_001807.4 - 15759 Apr 27, 2020 (154)
45 HGDP-CEPH-db Supplement 1 NC_001807.4 - 15759 Apr 27, 2020 (154)
46 KOREAN population from KRGDB NC_001807.4 - 15759 Apr 27, 2020 (154)
47 CNV burdens in cranial meningiomas NC_012920.1 - 15758 Apr 27, 2021 (155)
48 SGDP_PRJ NC_012920.1 - 15758 Apr 27, 2020 (154)
49 8.3KJPN NC_012920.1 - 15758 Apr 27, 2021 (155)
50 ALFA NC_012920.1 - 15758 Apr 27, 2021 (155)
51 ClinVar RCV000133437.1 Oct 12, 2018 (152)
52 ClinVar RCV000855365.1 Apr 27, 2020 (154)
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).

Associated ID History Updated (Build)
rs41337244 Aug 25, 2014 (136)
rs112684831 Sep 17, 2011 (135)
rs201309397 Aug 21, 2014 (142)
rs386508199 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
543163, 644399, 50801409, ss479152853, ss782634733, ss832615466, ss836124381, ss1397805599, ss3847966507, ss3892822359 NC_001807.4:15758:A:G NC_012920.1:15757:A:G (self)
RCV000133437.1, RCV000855365.1, 312685, 44837047, 94822374, 6530973026, ss66863437, ss66931964, ss68074745, ss70458798, ss70979338, ss75923280, ss152536605, ss159102670, ss169133757, ss484376877, ss491581530, ss536559244, ss780684894, ss783358367, ss1261355396, ss1752791201, ss1917715530, ss1958161489, ss2634932745, ss2711176169, ss2986125631, ss3020999633, ss3022981948, ss3630385205, ss3635240407, ss3640947867, ss3645007331, ss3653539322, ss3726656630, ss3744596950, ss3745540446, ss3773032167, ss3892820067, ss3984773984, ss5236853067, ss5237630464 NC_012920.1:15757:A:G NC_012920.1:15757: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 rs527236193

Help

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