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dbSNP Short Genetic Variations

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 152

Released October 2, 2018

Homo sapiens
chr2:219557454 (GRCh38.p7) 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
A=0.00001 (1/142260, GnomAD)
A=0.00001 (1/125568, TOPMED)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OBSL1 : Stop Gained
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.

Genomic Placements
Sequence name Change
GRCh38.p7 chr 2 NC_000002.12:g.219557454G>A
GRCh37.p13 chr 2 NC_000002.11:g.220422176G>A
OBSL1 RefSeqGene NG_016977.1:g.19093C>T

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.

Allele: A (allele ID: 361173 )
ClinVar Accession Disease Names Clinical Significance
RCV000415461.1 Three M syndrome 2 Pathogenic

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
The Genome Aggregation Database Global Study-wide 142260 G=0.99999 A=0.00001
The Genome Aggregation Database European Sub 66702 G=1.0000 A=0.0000
The Genome Aggregation Database Asian Sub 32862 G=1.0000 A=0.0000
The Genome Aggregation Database American Sub 23908 G=1.0000 A=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 8144 G=1.000 A=0.000
The Genome Aggregation Database African Sub 6910 G=1.000 A=0.000
The Genome Aggregation Database Other Sub 3734 G=1.000 A=0.000
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.99999 A=0.00001

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 Note
GRCh38.p7 chr 2 NC_000002.12:g.219557454G= NC_000002.12:g.21955745...


GRCh37.p13 chr 2 NC_000002.11:g.220422176G= NC_000002.11:g.22042217...


OBSL1 RefSeqGene NG_016977.1:g.19093C= NG_016977.1:g.19093C>T
OBSL1 transcript variant 1 NM_015311.2:c.3955C= NM_015311.2:c.3955C>T
OBSL1 transcript variant 2 NM_001173431.1:c.3955C= NM_001173431.1:c.3955C>T
OBSL1 transcript variant X1 XM_011510857.2:c.3955C= XM_011510857.2:c.3955C>T
OBSL1 transcript variant X8 XM_011510864.2:c.3955C= XM_011510864.2:c.3955C>T
OBSL1 transcript variant X10 XM_011510866.2:c.3679C= XM_011510866.2:c.3679C>T
OBSL1 transcript variant X9 XM_011510865.2:c.3955C= XM_011510865.2:c.3955C>T
OBSL1 transcript variant X8 XM_011510863.2:c.3955C= XM_011510863.2:c.3955C>T
OBSL1 transcript variant X2 XM_017003696.1:c.3955C= XM_017003696.1:c.3955C>T
OBSL1 transcript variant X3 XM_017003697.1:c.3955C= XM_017003697.1:c.3955C>T
OBSL1 transcript variant X5 XM_017003699.1:c.3679C= XM_017003699.1:c.3679C>T
obscurin-like protein 1 isoform 1 precursor NP_056126.1:p.Gln1319= NP_056126.1:p.Gln1319Ter
obscurin-like protein 1 isoform 2 precursor NP_001166902.1:p.Gln1319= NP_001166902.1:p.Gln131...


obscurin-like protein 1 isoform X1 XP_011509159.1:p.Gln1319= XP_011509159.1:p.Gln131...


obscurin-like protein 1 isoform X8 XP_011509166.1:p.Gln1319= XP_011509166.1:p.Gln131...


obscurin-like protein 1 isoform X9 XP_011509168.1:p.Gln1227= XP_011509168.1:p.Gln122...


obscurin-like protein 1 isoform X8 XP_011509167.1:p.Gln1319= XP_011509167.1:p.Gln131...


obscurin-like protein 1 isoform X7 XP_011509165.1:p.Gln1319= XP_011509165.1:p.Gln131...


obscurin-like protein 1 isoform X2 XP_016859185.1:p.Gln1319= XP_016859185.1:p.Gln131...


obscurin-like protein 1 isoform X3 XP_016859186.1:p.Gln1319= XP_016859186.1:p.Gln131...


obscurin-like protein 1 isoform X5 XP_016859188.1:p.Gln1227= XP_016859188.1:p.Gln122...



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 Frequency, 3 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137463454 Jan 19, 2017 (149)
2 GNOMAD ss2733361587 Nov 08, 2017 (151)
3 TOPMED ss3338930284 Nov 08, 2017 (151)
4 The Genome Aggregation Database NC_000002.11 - 220422176 Jul 19, 2018 (151)
5 Trans-Omics for Precision Medicine NC_000002.12 - 219557454 Jul 19, 2018 (151)
6 ClinVar RCV000415461.1 Jul 19, 2018 (151)

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
2376322, ss2733361587 NC_000002.11:220422175:G= NC_000002.12:219557453:G= (self)
217961132, ss2137463454, ss3338930284 NC_000002.12:219557453:G= NC_000002.12:219557453:G= (self)
2376322, ss2733361587 NC_000002.11:220422175:G>A NC_000002.12:219557453:G>A (self)
RCV000415461.1, 217961132, ss2137463454, ss3338930284 NC_000002.12:219557453:G>A NC_000002.12:219557453:G>A (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 rs1057518717

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: 0.1.4.post863+3a64c51