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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.

rs1488417425

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:125094007 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000000 (0/140230, GnomAD)
G=0.00000 (0/14048, ALFA)
T=0.00000 (0/14048, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM218 : 500B Downstream 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 14048 C=1.00000 G=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 96 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 G=0.000, T=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 - Genomes Global Study-wide 140230 C=1.000000 G=0.000000
gnomAD - Genomes European Sub 75948 C=1.00000 G=0.00000
gnomAD - Genomes African Sub 42020 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13654 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14048 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 96 C=1.00 G=0.00, T=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 11 NC_000011.10:g.125094007C>G
GRCh38.p14 chr 11 NC_000011.10:g.125094007C>T
GRCh37.p13 chr 11 NC_000011.9:g.124963903C>G
GRCh37.p13 chr 11 NC_000011.9:g.124963903C>T
Gene: TMEM218, transmembrane protein 218 (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
TMEM218 transcript variant 8 NM_001080546.3:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 5 NM_001258238.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 3 NM_001258239.3:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 6 NM_001258240.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 7 NM_001258241.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 2 NM_001258242.3:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 1 NM_001258243.3:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 9 NM_001258244.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 10 NM_001258245.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 4 NM_001258246.3:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 11 NM_001258247.2:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 19 NM_001387230.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 20 NM_001387231.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 21 NM_001387232.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 22 NM_001387233.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 23 NM_001387234.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 24 NM_001387235.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 25 NM_001387236.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 26 NM_001387237.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 27 NM_001387238.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 28 NM_001387239.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 29 NM_001387240.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 30 NM_001387241.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 31 NM_001387242.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 33 NM_001387244.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 34 NM_001387245.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 35 NM_001387246.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 36 NM_001387247.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 37 NM_001387248.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 38 NM_001387249.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 39 NM_001387250.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 40 NM_001387251.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 41 NM_001387252.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 42 NM_001387253.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 43 NM_001387254.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 44 NM_001387255.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 45 NM_001387256.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 46 NM_001387257.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 47 NM_001387258.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 48 NM_001387259.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant 12 NR_047586.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 13 NR_047587.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 14 NR_047588.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 15 NR_047589.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 16 NR_047590.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 17 NR_047591.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 18 NR_047592.2:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 49 NR_170600.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 50 NR_170601.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 51 NR_170602.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 52 NR_170603.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 53 NR_170604.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 54 NR_170605.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 55 NR_170606.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 56 NR_170607.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 57 NR_170608.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 58 NR_170609.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 59 NR_170610.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 60 NR_170611.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 61 NR_170612.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant 62 NR_170613.1:n. N/A Downstream Transcript Variant
TMEM218 transcript variant X1 XM_006718780.4:c. N/A Downstream Transcript Variant
TMEM218 transcript variant X4 XM_047426540.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant X5 XM_047426541.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant X3 XM_047426542.1:c. N/A Downstream Transcript Variant
TMEM218 transcript variant X2 XM_047426543.1:c. N/A Downstream 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 C= G T
GRCh38.p14 chr 11 NC_000011.10:g.125094007= NC_000011.10:g.125094007C>G NC_000011.10:g.125094007C>T
GRCh37.p13 chr 11 NC_000011.9:g.124963903= NC_000011.9:g.124963903C>G NC_000011.9:g.124963903C>T
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4244282720 Apr 26, 2021 (155)
2 TOPMED ss4903355373 Apr 26, 2021 (155)
3 TOPMED ss4903355374 Apr 26, 2021 (155)
4 gnomAD - Genomes NC_000011.10 - 125094007 Apr 26, 2021 (155)
5 TopMed

Submission ignored due to conflicting rows:
Row 118901029 (NC_000011.10:125094006:C:G 3/264690)
Row 118901030 (NC_000011.10:125094006:C:T 1/264690)

- Apr 26, 2021 (155)
6 TopMed

Submission ignored due to conflicting rows:
Row 118901029 (NC_000011.10:125094006:C:G 3/264690)
Row 118901030 (NC_000011.10:125094006:C:T 1/264690)

- Apr 26, 2021 (155)
7 ALFA NC_000011.10 - 125094007 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
394779633, 8366407188, ss4244282720, ss4903355373 NC_000011.10:125094006:C:G NC_000011.10:125094006:C:G (self)
8366407188, ss4903355374 NC_000011.10:125094006:C:T NC_000011.10:125094006:C:T (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 rs1488417425

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