Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1479182001

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:109585961 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000007 (1/140276, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AK9 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 T=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 C=0.000 1.0 0.0 0.0 N/A


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 T=0.999996 C=0.000004
gnomAD - Genomes Global Study-wide 140276 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75958 T=0.99999 C=0.00001
gnomAD - Genomes African Sub 42050 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13656 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
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 6 NC_000006.12:g.109585961T>C
GRCh37.p13 chr 6 NC_000006.11:g.109907164T>C
Gene: AK9, adenylate kinase 9 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AK9 transcript variant 3 NM_001329602.2:c. N/A Genic Downstream Transcript Variant
AK9 transcript variant 4 NM_001329603.2:c. N/A Genic Downstream Transcript Variant
AK9 transcript variant 2 NM_145025.5:c. N/A Genic Downstream Transcript Variant
AK9 transcript variant 1 NM_001145128.3:c.1954A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform 1 NP_001138600.2:p.Ile652Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant 5 NR_138057.2:n. N/A Genic Downstream Transcript Variant
AK9 transcript variant X17 XM_011535558.1:c. N/A Genic Upstream Transcript Variant
AK9 transcript variant X4 XM_011535552.3:c.1954A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X3 XP_011533854.1:p.Ile652Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X1 XM_011535550.3:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X1 XP_011533852.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X2 XM_024446350.2:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X1 XP_024302118.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X3 XM_006715376.4:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X2 XP_006715439.2:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X5 XM_011535553.4:c.1954A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X3 XP_011533855.1:p.Ile652Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X6 XM_011535554.3:c.1849A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X4 XP_011533856.1:p.Ile617Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X7 XM_047418304.1:c.1633A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X5 XP_047274260.1:p.Ile545Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X8 XM_047418305.1:c.1633A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X5 XP_047274261.1:p.Ile545Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X9 XM_017010384.2:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X6 XP_016865873.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X11 XM_017010385.3:c.1309A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X7 XP_016865874.1:p.Ile437Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X12 XM_017010386.2:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X8 XP_016865875.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X13 XM_011535555.3:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X9 XP_011533857.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X14 XM_047418306.1:c.808A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X10 XP_047274262.1:p.Ile270Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X15 XM_011535556.4:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X11 XP_011533858.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X16 XM_017010388.3:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X12 XP_016865877.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X18 XM_047418307.1:c.1633A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X14 XP_047274263.1:p.Ile545Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X19 XM_011535559.4:c.2170A>G I [ATT] > V [GTT] Coding Sequence Variant
adenylate kinase 9 isoform X15 XP_011533861.1:p.Ile724Val I (Ile) > V (Val) Missense Variant
AK9 transcript variant X10 XR_942337.3:n.2913A>G N/A Non Coding Transcript 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.

Not Reported in ClinVar
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 T= C
GRCh38.p14 chr 6 NC_000006.12:g.109585961= NC_000006.12:g.109585961T>C
GRCh37.p13 chr 6 NC_000006.11:g.109907164= NC_000006.11:g.109907164T>C
AK9 transcript variant X3 XM_006715376.4:c.2170= XM_006715376.4:c.2170A>G
AK9 transcript variant X3 XM_006715376.3:c.2170= XM_006715376.3:c.2170A>G
AK9 transcript variant X2 XM_006715376.2:c.2170= XM_006715376.2:c.2170A>G
AK9 transcript variant X1 XM_006715376.1:c.1954= XM_006715376.1:c.1954A>G
AK9 transcript variant X5 XM_011535553.4:c.1954= XM_011535553.4:c.1954A>G
AK9 transcript variant X5 XM_011535553.3:c.1954= XM_011535553.3:c.1954A>G
AK9 transcript variant X4 XM_011535553.2:c.1954= XM_011535553.2:c.1954A>G
AK9 transcript variant X5 XM_011535553.1:c.1954= XM_011535553.1:c.1954A>G
AK9 transcript variant X15 XM_011535556.4:c.2170= XM_011535556.4:c.2170A>G
AK9 transcript variant X13 XM_011535556.3:c.2170= XM_011535556.3:c.2170A>G
AK9 transcript variant X12 XM_011535556.2:c.2170= XM_011535556.2:c.2170A>G
AK9 transcript variant X10 XM_011535556.1:c.2170= XM_011535556.1:c.2170A>G
AK9 transcript variant X19 XM_011535559.4:c.2170= XM_011535559.4:c.2170A>G
AK9 transcript variant X17 XM_011535559.3:c.2170= XM_011535559.3:c.2170A>G
AK9 transcript variant X16 XM_011535559.2:c.2170= XM_011535559.2:c.2170A>G
AK9 transcript variant X13 XM_011535559.1:c.2170= XM_011535559.1:c.2170A>G
AK9 transcript variant X1 XM_011535550.3:c.2170= XM_011535550.3:c.2170A>G
AK9 transcript variant X1 XM_011535550.2:c.2170= XM_011535550.2:c.2170A>G
AK9 transcript variant X1 XM_011535550.1:c.2170= XM_011535550.1:c.2170A>G
AK9 transcript variant X6 XM_011535554.3:c.1849= XM_011535554.3:c.1849A>G
AK9 transcript variant X6 XM_011535554.2:c.1849= XM_011535554.2:c.1849A>G
AK9 transcript variant X6 XM_011535554.1:c.1849= XM_011535554.1:c.1849A>G
AK9 transcript variant X4 XM_011535552.3:c.1954= XM_011535552.3:c.1954A>G
AK9 transcript variant X3 XM_011535552.2:c.1954= XM_011535552.2:c.1954A>G
AK9 transcript variant X4 XM_011535552.1:c.1954= XM_011535552.1:c.1954A>G
AK9 transcript variant 1 NM_001145128.3:c.1954= NM_001145128.3:c.1954A>G
AK9 transcript variant 1 NM_001145128.2:c.1954= NM_001145128.2:c.1954A>G
AK9 transcript variant X10 XR_942337.3:n.2913= XR_942337.3:n.2913A>G
AK9 transcript variant X8 XR_942337.2:n.2896= XR_942337.2:n.2896A>G
AK9 transcript variant X7 XR_942337.1:n.2855= XR_942337.1:n.2855A>G
AK9 transcript variant X13 XM_011535555.3:c.2170= XM_011535555.3:c.2170A>G
AK9 transcript variant X11 XM_011535555.2:c.2170= XM_011535555.2:c.2170A>G
AK9 transcript variant X9 XM_011535555.1:c.2170= XM_011535555.1:c.2170A>G
AK9 transcript variant X16 XM_017010388.3:c.2170= XM_017010388.3:c.2170A>G
AK9 transcript variant X14 XM_017010388.2:c.2170= XM_017010388.2:c.2170A>G
AK9 transcript variant X13 XM_017010388.1:c.2170= XM_017010388.1:c.2170A>G
AK9 transcript variant X11 XM_017010385.3:c.1309= XM_017010385.3:c.1309A>G
AK9 transcript variant X9 XM_017010385.2:c.1309= XM_017010385.2:c.1309A>G
AK9 transcript variant X8 XM_017010385.1:c.1309= XM_017010385.1:c.1309A>G
AK9 transcript variant X2 XM_024446350.2:c.2170= XM_024446350.2:c.2170A>G
AK9 transcript variant X2 XM_024446350.1:c.2170= XM_024446350.1:c.2170A>G
AK9 transcript variant X9 XM_017010384.2:c.2170= XM_017010384.2:c.2170A>G
AK9 transcript variant X7 XM_017010384.1:c.2170= XM_017010384.1:c.2170A>G
AK9 transcript variant X12 XM_017010386.2:c.2170= XM_017010386.2:c.2170A>G
AK9 transcript variant X10 XM_017010386.1:c.2170= XM_017010386.1:c.2170A>G
AK9 transcript variant X8 XM_047418305.1:c.1633= XM_047418305.1:c.1633A>G
AK9 transcript variant X7 XM_047418304.1:c.1633= XM_047418304.1:c.1633A>G
AK9 transcript variant X14 XM_047418306.1:c.808= XM_047418306.1:c.808A>G
AK9 transcript variant X18 XM_047418307.1:c.1633= XM_047418307.1:c.1633A>G
adenylate kinase 9 isoform X2 XP_006715439.2:p.Ile724= XP_006715439.2:p.Ile724Val
adenylate kinase 9 isoform X3 XP_011533855.1:p.Ile652= XP_011533855.1:p.Ile652Val
adenylate kinase 9 isoform X11 XP_011533858.1:p.Ile724= XP_011533858.1:p.Ile724Val
adenylate kinase 9 isoform X15 XP_011533861.1:p.Ile724= XP_011533861.1:p.Ile724Val
adenylate kinase 9 isoform X1 XP_011533852.1:p.Ile724= XP_011533852.1:p.Ile724Val
adenylate kinase 9 isoform X4 XP_011533856.1:p.Ile617= XP_011533856.1:p.Ile617Val
adenylate kinase 9 isoform X3 XP_011533854.1:p.Ile652= XP_011533854.1:p.Ile652Val
adenylate kinase 9 isoform 1 NP_001138600.2:p.Ile652= NP_001138600.2:p.Ile652Val
adenylate kinase 9 isoform X9 XP_011533857.1:p.Ile724= XP_011533857.1:p.Ile724Val
adenylate kinase 9 isoform X12 XP_016865877.1:p.Ile724= XP_016865877.1:p.Ile724Val
adenylate kinase 9 isoform X7 XP_016865874.1:p.Ile437= XP_016865874.1:p.Ile437Val
adenylate kinase 9 isoform X1 XP_024302118.1:p.Ile724= XP_024302118.1:p.Ile724Val
adenylate kinase 9 isoform X6 XP_016865873.1:p.Ile724= XP_016865873.1:p.Ile724Val
adenylate kinase 9 isoform X8 XP_016865875.1:p.Ile724= XP_016865875.1:p.Ile724Val
adenylate kinase 9 isoform X5 XP_047274261.1:p.Ile545= XP_047274261.1:p.Ile545Val
adenylate kinase 9 isoform X5 XP_047274260.1:p.Ile545= XP_047274260.1:p.Ile545Val
adenylate kinase 9 isoform X10 XP_047274262.1:p.Ile270= XP_047274262.1:p.Ile270Val
adenylate kinase 9 isoform X14 XP_047274263.1:p.Ile545= XP_047274263.1:p.Ile545Val
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4149038865 Apr 26, 2021 (155)
2 TOPMED ss4717164315 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000006.12 - 109585961 Apr 26, 2021 (155)
4 TopMed NC_000006.12 - 109585961 Apr 26, 2021 (155)
5 ALFA NC_000006.12 - 109585961 Apr 26, 2021 (155)
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
237180176, 554541873, 451192282, ss4149038865, ss4717164315 NC_000006.12:109585960:T:C NC_000006.12:109585960:T:C (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 rs1479182001

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.post820+afb47a3d