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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:1736 (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=0.0739 (619/8380, 8.3KJPN)
G=0.0744 (218/2930, KOREAN)
G=0.0089 (18/2014, HGDP_Stanford) (+ 3 more)
G=0.0352 (40/1136, Daghestan)
G=0.056 (44/790, PRJEB37584)
A=0.00 (0/28, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MT-ND1 : 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-ND1, mitochondrially encoded NADH dehydrogenase 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MT NC_012920.1:m.1736A>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

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=0.9261 G=0.0739
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9256 G=0.0744
HGDP-CEPH-db Supplement 1 Global Study-wide 2014 A=0.9911 G=0.0089
HGDP-CEPH-db Supplement 1 Est_Asia Sub 444 A=0.973 G=0.027
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=1.000 G=0.000
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 172 A=0.965 G=0.035
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.9648 G=0.0352
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.943 G=0.057
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 108 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 36 A=1.00 G=0.00
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.944 G=0.056
CNV burdens in cranial meningiomas CRM Sub 790 A=0.944 G=0.056
SGDP_PRJ Global Study-wide 28 A=0.00 G=1.00

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.1736= NC_012920.1:m.1736A>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#.

27 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35251656 Oct 12, 2018 (152)
2 BROAD ss37044363 Sep 14, 2016 (149)
3 ILLUMINA ss66863442 Sep 14, 2016 (149)
4 ILLUMINA ss66931974 Sep 14, 2016 (149)
5 ILLUMINA ss68074750 Sep 14, 2016 (149)
6 PERLEGEN ss69268925 Sep 14, 2016 (149)
7 ILLUMINA ss70458802 Sep 14, 2016 (149)
8 ILLUMINA ss70979342 Sep 14, 2016 (149)
9 ILLUMINA ss75918265 Sep 14, 2016 (149)
10 ILLUMINA ss410884105 Sep 27, 2011 (135)
11 ILLUMINA ss479152857 Oct 12, 2018 (152)
12 EXOME_CHIP ss491581310 Sep 14, 2016 (149)
13 ILLUMINA ss782634737 Oct 12, 2018 (152)
14 ILLUMINA ss832615470 Jul 14, 2019 (153)
15 HAMMER_LAB ss1397805363 Oct 12, 2018 (152)
16 ILLUMINA ss1958161156 Jul 19, 2016 (147)
17 ILLUMINA ss3022981177 Oct 12, 2018 (152)
18 ILLUMINA ss3625994453 Oct 12, 2018 (152)
19 ILLUMINA ss3645007068 Oct 12, 2018 (152)
20 ILLUMINA ss3653538702 Oct 12, 2018 (152)
21 ILLUMINA ss3726655991 Jul 14, 2019 (153)
22 ILLUMINA ss3744327102 Jul 14, 2019 (153)
23 HGDP ss3847966380 Apr 27, 2020 (154)
24 SGDP_PRJ ss3892818771 Apr 27, 2020 (154)
25 KRGDB ss3892820541 Apr 27, 2020 (154)
26 EVA ss3984773654 Apr 27, 2021 (155)
27 TOMMO_GENOMICS ss5236850252 Apr 27, 2021 (155)
28 Genome-wide autozygosity in Daghestan NC_001807.4 - 1738 Apr 27, 2020 (154)
29 HGDP-CEPH-db Supplement 1 NC_001807.4 - 1738 Apr 27, 2020 (154)
30 KOREAN population from KRGDB NC_001807.4 - 1738 Apr 27, 2020 (154)
31 CNV burdens in cranial meningiomas NC_012920.1 - 1736 Apr 27, 2021 (155)
32 SGDP_PRJ NC_012920.1 - 1736 Apr 27, 2020 (154)
33 8.3KJPN NC_012920.1 - 1736 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)
rs201250257 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
542933, 644272, 50799591, ss35251656, ss479152857, ss782634737, ss832615470, ss1397805363, ss3847966380, ss3892820541 NC_001807.4:1737:A:G NC_012920.1:1735:A:G (self)
312354, 44835751, 94819559, ss37044363, ss66863442, ss66931974, ss68074750, ss69268925, ss70458802, ss70979342, ss75918265, ss410884105, ss491581310, ss1958161156, ss3022981177, ss3625994453, ss3645007068, ss3653538702, ss3726655991, ss3744327102, ss3892818771, ss3984773654, ss5236850252 NC_012920.1:1735:A:G NC_012920.1:1735: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 rs193303006


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