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.

rs1467634272

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:47916911 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/250666, GnomAD_exome)
G=0.000007 (1/140274, GnomAD)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SP2 : Synonymous Variant
SP2-AS1 : Intron 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 10680 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 466 A=1.000 G=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
gnomAD - Exomes Global Study-wide 250666 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 134670 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 49000 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34580 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 16234 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10054 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6128 A=1.0000 G=0.0000
gnomAD - Genomes Global Study-wide 140274 A=0.999993 G=0.000007
gnomAD - Genomes European Sub 75954 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42046 A=1.00000 G=0.00000
gnomAD - Genomes American Sub 13662 A=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 A=0.9995 G=0.0005
Allele Frequency Aggregator Total Global 10680 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=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 17 NC_000017.11:g.47916911A>G
GRCh37.p13 chr 17 NC_000017.10:g.45994277A>G
Gene: SP2, Sp2 transcription factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SP2 transcript NM_003110.6:c.840A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 NP_003101.3:p.Ala280= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X1 XM_011525136.3:c.1152A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X1 XP_011523438.1:p.Ala384= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X2 XM_011525137.3:c.1152A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X2 XP_011523439.1:p.Ala384= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X3 XM_011525138.3:c.1152A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X3 XP_011523440.1:p.Ala384= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X4 XM_006722023.3:c.840A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X4 XP_006722086.1:p.Ala280= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X5 XM_047436569.1:c.840A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X5 XP_047292525.1:p.Ala280= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X14 XM_011525139.3:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_011523441.2:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X6 XM_006722025.3:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_006722088.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X7 XM_047436570.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_047292526.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X8 XM_047436571.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_047292527.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X9 XM_006722027.3:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_006722090.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X10 XM_047436572.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_047292528.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X11 XM_047436573.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_047292529.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X12 XM_017024968.2:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_016880457.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X13 XM_011525143.2:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X6 XP_011523445.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X15 XM_047436575.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X7 XP_047292531.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X16 XM_047436576.1:c.840A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X8 XP_047292532.1:p.Ala280= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X17 XM_011525140.3:c.1152A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X9 XP_011523442.1:p.Ala384= A (Ala) > A (Ala) Synonymous Variant
SP2 transcript variant X18 XM_047436577.1:c.819A>G A [GCA] > A [GCG] Coding Sequence Variant
transcription factor Sp2 isoform X10 XP_047292533.1:p.Ala273= A (Ala) > A (Ala) Synonymous Variant
Gene: SP2-AS1, SP2 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SP2-AS1 transcript variant 1 NR_103856.1:n. N/A Intron Variant
SP2-AS1 transcript variant 2 NR_103857.1:n. N/A Intron 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 A= G
GRCh38.p14 chr 17 NC_000017.11:g.47916911= NC_000017.11:g.47916911A>G
GRCh37.p13 chr 17 NC_000017.10:g.45994277= NC_000017.10:g.45994277A>G
SP2 transcript NM_003110.6:c.840= NM_003110.6:c.840A>G
SP2 transcript NM_003110.5:c.840= NM_003110.5:c.840A>G
SP2 transcript variant X1 XM_011525136.3:c.1152= XM_011525136.3:c.1152A>G
SP2 transcript variant X1 XM_011525136.2:c.1152= XM_011525136.2:c.1152A>G
SP2 transcript variant X1 XM_011525136.1:c.1152= XM_011525136.1:c.1152A>G
SP2 transcript variant X2 XM_011525137.3:c.1152= XM_011525137.3:c.1152A>G
SP2 transcript variant X2 XM_011525137.2:c.1152= XM_011525137.2:c.1152A>G
SP2 transcript variant X2 XM_011525137.1:c.1152= XM_011525137.1:c.1152A>G
SP2 transcript variant X3 XM_011525138.3:c.1152= XM_011525138.3:c.1152A>G
SP2 transcript variant X3 XM_011525138.2:c.1152= XM_011525138.2:c.1152A>G
SP2 transcript variant X3 XM_011525138.1:c.1152= XM_011525138.1:c.1152A>G
SP2 transcript variant X17 XM_011525140.3:c.1152= XM_011525140.3:c.1152A>G
SP2 transcript variant X5 XM_011525140.2:c.1152= XM_011525140.2:c.1152A>G
SP2 transcript variant X5 XM_011525140.1:c.1152= XM_011525140.1:c.1152A>G
SP2 transcript variant X6 XM_006722025.3:c.819= XM_006722025.3:c.819A>G
SP2 transcript variant X9 XM_006722025.2:c.819= XM_006722025.2:c.819A>G
SP2 transcript variant X3 XM_006722025.1:c.819= XM_006722025.1:c.819A>G
SP2 transcript variant X9 XM_006722027.3:c.819= XM_006722027.3:c.819A>G
SP2 transcript variant X11 XM_006722027.2:c.819= XM_006722027.2:c.819A>G
SP2 transcript variant X5 XM_006722027.1:c.819= XM_006722027.1:c.819A>G
SP2 transcript variant X14 XM_011525139.3:c.819= XM_011525139.3:c.819A>G
SP2 transcript variant X4 XM_011525139.2:c.1020= XM_011525139.2:c.1020A>G
SP2 transcript variant X4 XM_011525139.1:c.1020= XM_011525139.1:c.1020A>G
SP2 transcript variant X4 XM_006722023.3:c.840= XM_006722023.3:c.840A>G
SP2 transcript variant X6 XM_006722023.2:c.840= XM_006722023.2:c.840A>G
SP2 transcript variant X1 XM_006722023.1:c.840= XM_006722023.1:c.840A>G
SP2 transcript variant X12 XM_017024968.2:c.819= XM_017024968.2:c.819A>G
SP2 transcript variant X8 XM_017024968.1:c.819= XM_017024968.1:c.819A>G
SP2 transcript variant X13 XM_011525143.2:c.819= XM_011525143.2:c.819A>G
SP2 transcript variant X12 XM_011525143.1:c.819= XM_011525143.1:c.819A>G
SP2 transcript variant X11 XM_047436573.1:c.819= XM_047436573.1:c.819A>G
SP2 transcript variant X8 XM_047436571.1:c.819= XM_047436571.1:c.819A>G
SP2 transcript variant X10 XM_047436572.1:c.819= XM_047436572.1:c.819A>G
SP2 transcript variant X7 XM_047436570.1:c.819= XM_047436570.1:c.819A>G
SP2 transcript variant X15 XM_047436575.1:c.819= XM_047436575.1:c.819A>G
SP2 transcript variant X5 XM_047436569.1:c.840= XM_047436569.1:c.840A>G
SP2 transcript variant X16 XM_047436576.1:c.840= XM_047436576.1:c.840A>G
SP2 transcript variant X18 XM_047436577.1:c.819= XM_047436577.1:c.819A>G
transcription factor Sp2 NP_003101.3:p.Ala280= NP_003101.3:p.Ala280=
transcription factor Sp2 isoform X1 XP_011523438.1:p.Ala384= XP_011523438.1:p.Ala384=
transcription factor Sp2 isoform X2 XP_011523439.1:p.Ala384= XP_011523439.1:p.Ala384=
transcription factor Sp2 isoform X3 XP_011523440.1:p.Ala384= XP_011523440.1:p.Ala384=
transcription factor Sp2 isoform X9 XP_011523442.1:p.Ala384= XP_011523442.1:p.Ala384=
transcription factor Sp2 isoform X6 XP_006722088.1:p.Ala273= XP_006722088.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_006722090.1:p.Ala273= XP_006722090.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_011523441.2:p.Ala273= XP_011523441.2:p.Ala273=
transcription factor Sp2 isoform X4 XP_006722086.1:p.Ala280= XP_006722086.1:p.Ala280=
transcription factor Sp2 isoform X6 XP_016880457.1:p.Ala273= XP_016880457.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_011523445.1:p.Ala273= XP_011523445.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_047292529.1:p.Ala273= XP_047292529.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_047292527.1:p.Ala273= XP_047292527.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_047292528.1:p.Ala273= XP_047292528.1:p.Ala273=
transcription factor Sp2 isoform X6 XP_047292526.1:p.Ala273= XP_047292526.1:p.Ala273=
transcription factor Sp2 isoform X7 XP_047292531.1:p.Ala273= XP_047292531.1:p.Ala273=
transcription factor Sp2 isoform X5 XP_047292525.1:p.Ala280= XP_047292525.1:p.Ala280=
transcription factor Sp2 isoform X8 XP_047292532.1:p.Ala280= XP_047292532.1:p.Ala280=
transcription factor Sp2 isoform X10 XP_047292533.1:p.Ala273= XP_047292533.1:p.Ala273=
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 ss2742812246 Nov 08, 2017 (151)
2 GNOMAD ss4312245553 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000017.11 - 47916911 Apr 26, 2021 (155)
4 gnomAD - Exomes NC_000017.10 - 45994277 Jul 13, 2019 (153)
5 ALFA NC_000017.11 - 47916911 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
12116097, ss2742812246 NC_000017.10:45994276:A:G NC_000017.11:47916910:A:G (self)
508296296, 9573132607, ss4312245553 NC_000017.11:47916910:A:G NC_000017.11:47916910: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 rs1467634272

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