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.

rs750615534

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:75784904 (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=0.000006 (1/159831, GnomAD_exome)
A=0.00001 (1/81536, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAGEE2 : Missense Variant
LOC107985664 : Intron 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
gnomAD - Exomes Global Study-wide 159831 G=0.999994 A=0.000006
gnomAD - Exomes European Sub 87439 G=0.99999 A=0.00001
gnomAD - Exomes Asian Sub 26712 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 23812 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 12858 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 5189 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 3821 G=1.0000 A=0.0000
ExAC Global Study-wide 81536 G=0.99999 A=0.00001
ExAC Europe Sub 50480 G=0.99998 A=0.00002
ExAC Asian Sub 12918 G=1.00000 A=0.00000
ExAC American Sub 9238 G=1.0000 A=0.0000
ExAC African Sub 8321 G=1.0000 A=0.0000
ExAC Other Sub 579 G=1.000 A=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.75784904G>A
GRCh37.p13 chr X NC_000023.10:g.75004739G>A
MAGEE2 RefSeqGene NG_021324.1:g.5341C>T
Gene: MAGEE2, MAGE family member E2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAGEE2 transcript NM_138703.5:c.148C>T P [CCA] > S [TCA] Coding Sequence Variant
melanoma-associated antigen E2 NP_619648.1:p.Pro50Ser P (Pro) > S (Ser) Missense Variant
Gene: LOC107985664, uncharacterized LOC107985664 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107985664 transcript variant X8 XR_001755892.2:n. N/A Intron Variant
LOC107985664 transcript variant X10 XR_001755894.2:n. N/A Intron Variant
LOC107985664 transcript variant X5 XR_007068272.1:n. N/A Intron Variant
LOC107985664 transcript variant X9 XR_007068273.1:n. N/A Intron Variant
LOC107985664 transcript variant X2 XR_001755885.2:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X7 XR_001755889.2:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X6 XR_001755890.2:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X4 XR_001755893.2:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X11 XR_001755895.2:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X1 XR_007068270.1:n. N/A Genic Downstream Transcript Variant
LOC107985664 transcript variant X3 XR_007068271.1:n. N/A Genic 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 G= A
GRCh38.p14 chr X NC_000023.11:g.75784904= NC_000023.11:g.75784904G>A
GRCh37.p13 chr X NC_000023.10:g.75004739= NC_000023.10:g.75004739G>A
MAGEE2 RefSeqGene NG_021324.1:g.5341= NG_021324.1:g.5341C>T
MAGEE2 transcript NM_138703.5:c.148= NM_138703.5:c.148C>T
MAGEE2 transcript NM_138703.4:c.148= NM_138703.4:c.148C>T
melanoma-associated antigen E2 NP_619648.1:p.Pro50= NP_619648.1:p.Pro50Ser
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1694559194 Apr 01, 2015 (144)
2 GNOMAD ss2745465760 Nov 08, 2017 (151)
3 ExAC NC_000023.10 - 75004739 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000023.10 - 75004739 Jul 13, 2019 (153)
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
10063812, 14797362, ss1694559194, ss2745465760 NC_000023.10:75004738:G:A NC_000023.11:75784903: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 rs750615534

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