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

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.

rs761192601

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:141906174-141906179 (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
delGAGTA
Variation Type
Indel Insertion and Deletion
Frequency
delGAGTA=0.00008 (4/47098, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAGEC1 : Frameshift 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
ExAC Global Study-wide 47098 AGAGTA=0.99992 delGAGTA=0.00008
ExAC Europe Sub 24594 AGAGTA=0.99996 delGAGTA=0.00004
ExAC Asian Sub 10001 AGAGTA=0.99970 delGAGTA=0.00030
ExAC American Sub 6228 AGAGTA=1.0000 delGAGTA=0.0000
ExAC African Sub 5946 AGAGTA=1.0000 delGAGTA=0.0000
ExAC Other Sub 329 AGAGTA=1.000 delGAGTA=0.000
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 X NC_000023.11:g.141906175_141906179del
GRCh37.p13 chr X NC_000023.10:g.140993961_140993965del
MAGEC1 RefSeqGene NG_015871.1:g.7320_7324del
Gene: MAGEC1, MAGE family member C1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAGEC1 transcript NM_005462.5:c.771_775del Q [CAGAG] > H [CACT] Coding Sequence Variant
melanoma-associated antigen C1 NP_005453.2:p.Gln257fs Q (Gln) > H (His) Frameshift Variant
MAGEC1 transcript variant X1 XM_011531418.3:c.771_775d…

XM_011531418.3:c.771_775del

Q [CAGAG] > H [CACT] Coding Sequence Variant
melanoma-associated antigen C1 isoform X1 XP_011529720.1:p.Gln257fs Q (Gln) > H (His) Frameshift 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 AGAGTA= delGAGTA
GRCh38.p14 chr X NC_000023.11:g.141906174_141906179= NC_000023.11:g.141906175_141906179del
GRCh37.p13 chr X NC_000023.10:g.140993960_140993965= NC_000023.10:g.140993961_140993965del
MAGEC1 RefSeqGene NG_015871.1:g.7319_7324= NG_015871.1:g.7320_7324del
MAGEC1 transcript NM_005462.5:c.770_775= NM_005462.5:c.771_775del
MAGEC1 transcript NM_005462.4:c.770_775= NM_005462.4:c.771_775del
MAGEC1 transcript variant X1 XM_011531418.3:c.770_775= XM_011531418.3:c.771_775del
MAGEC1 transcript variant X1 XM_011531418.2:c.770_775= XM_011531418.2:c.771_775del
MAGEC1 transcript variant X1 XM_011531418.1:c.770_775= XM_011531418.1:c.771_775del
melanoma-associated antigen C1 NP_005453.2:p.Gln257_Thr259= NP_005453.2:p.Gln257fs
melanoma-associated antigen C1 isoform X1 XP_011529720.1:p.Gln257_Thr259= XP_011529720.1:p.Gln257fs
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#.

4 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1712271517 Apr 01, 2015 (144)
2 GNOMAD ss2745577498 Nov 08, 2017 (151)
3 GNOMAD ss2746151956 Nov 08, 2017 (151)
4 GNOMAD ss2984030378 Nov 08, 2017 (151)
5 ExAC NC_000023.10 - 140993960 Oct 12, 2018 (152)
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
10140906, ss1712271517, ss2745577498, ss2746151956, ss2984030378 NC_000023.10:140993959:AGAGT: NC_000023.11:141906173:AGAGTA: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 rs761192601

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.post761+d5e8e07