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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.

rs1486626900

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:74135785 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.0049 (9/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBXO15 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
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
Korean Genome Project KOREAN Study-wide 1832 G=0.9951 A=0.0049
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 18 NC_000018.10:g.74135785G>A
GRCh37.p13 chr 18 NC_000018.9:g.71803020G>A
Gene: FBXO15, F-box protein 15 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FBXO15 transcript variant 2 NM_001142958.2:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform 2 NP_001136430.1:p.Arg103= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant 1 NM_152676.3:c.81C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform 1 NP_689889.1:p.Arg27= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X8 XM_011525860.1:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X6 XP_011524162.1:p.Arg103= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X6 XM_011525858.2:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X4 XP_011524160.1:p.Arg103= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X1 XM_011525856.2:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X1 XP_011524158.1:p.Arg103= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X2 XM_024451099.2:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X2 XP_024306867.1:p.Arg103= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X3 XM_017025604.3:c.81C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X3 XP_016881093.1:p.Arg27= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X4 XM_047437341.1:c.81C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X3 XP_047293297.1:p.Arg27= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X5 XM_047437342.1:c.81C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X3 XP_047293298.1:p.Arg27= R (Arg) > R (Arg) Synonymous Variant
FBXO15 transcript variant X7 XM_047437343.1:c.309C>T R [CGC] > R [CGT] Coding Sequence Variant
F-box only protein 15 isoform X5 XP_047293299.1:p.Arg103= R (Arg) > R (Arg) Synonymous 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 G= A
GRCh38.p14 chr 18 NC_000018.10:g.74135785= NC_000018.10:g.74135785G>A
GRCh37.p13 chr 18 NC_000018.9:g.71803020= NC_000018.9:g.71803020G>A
FBXO15 transcript variant X3 XM_017025604.3:c.81= XM_017025604.3:c.81C>T
FBXO15 transcript variant X4 XM_017025604.2:c.81= XM_017025604.2:c.81C>T
FBXO15 transcript variant X3 XM_017025604.1:c.81= XM_017025604.1:c.81C>T
FBXO15 transcript variant 1 NM_152676.3:c.81= NM_152676.3:c.81C>T
FBXO15 transcript variant 1 NM_152676.2:c.81= NM_152676.2:c.81C>T
FBXO15 transcript variant X6 XM_011525858.2:c.309= XM_011525858.2:c.309C>T
FBXO15 transcript variant X5 XM_011525858.1:c.309= XM_011525858.1:c.309C>T
FBXO15 transcript variant 2 NM_001142958.2:c.309= NM_001142958.2:c.309C>T
FBXO15 transcript variant 2 NM_001142958.1:c.309= NM_001142958.1:c.309C>T
FBXO15 transcript variant X2 XM_024451099.2:c.309= XM_024451099.2:c.309C>T
FBXO15 transcript variant X2 XM_024451099.1:c.309= XM_024451099.1:c.309C>T
FBXO15 transcript variant X1 XM_011525856.2:c.309= XM_011525856.2:c.309C>T
FBXO15 transcript variant X1 XM_011525856.1:c.309= XM_011525856.1:c.309C>T
FBXO15 transcript variant X4 XM_047437341.1:c.81= XM_047437341.1:c.81C>T
FBXO15 transcript variant X5 XM_047437342.1:c.81= XM_047437342.1:c.81C>T
FBXO15 transcript variant X7 XM_047437343.1:c.309= XM_047437343.1:c.309C>T
FBXO15 transcript variant X8 XM_011525860.1:c.309= XM_011525860.1:c.309C>T
F-box only protein 15 isoform X3 XP_016881093.1:p.Arg27= XP_016881093.1:p.Arg27=
F-box only protein 15 isoform 1 NP_689889.1:p.Arg27= NP_689889.1:p.Arg27=
F-box only protein 15 isoform X4 XP_011524160.1:p.Arg103= XP_011524160.1:p.Arg103=
F-box only protein 15 isoform 2 NP_001136430.1:p.Arg103= NP_001136430.1:p.Arg103=
F-box only protein 15 isoform X2 XP_024306867.1:p.Arg103= XP_024306867.1:p.Arg103=
F-box only protein 15 isoform X1 XP_011524158.1:p.Arg103= XP_011524158.1:p.Arg103=
F-box only protein 15 isoform X3 XP_047293297.1:p.Arg27= XP_047293297.1:p.Arg27=
F-box only protein 15 isoform X3 XP_047293298.1:p.Arg27= XP_047293298.1:p.Arg27=
F-box only protein 15 isoform X5 XP_047293299.1:p.Arg103= XP_047293299.1:p.Arg103=
F-box only protein 15 isoform X6 XP_011524162.1:p.Arg103= XP_011524162.1:p.Arg103=
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, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743349465 Nov 08, 2017 (151)
2 KOGIC ss3980514313 Apr 27, 2020 (154)
3 Korean Genome Project NC_000018.10 - 74135785 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2743349465 NC_000018.9:71803019:G:A NC_000018.10:74135784:G:A (self)
36892314, ss3980514313 NC_000018.10:74135784:G:A NC_000018.10:74135784:G:A (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 rs1486626900

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