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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.

rs1015798796

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr20:46725684 (GRCh38.p13) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000019 (5/264690, TOPMED)
G=0.000014 (2/140294, GnomAD)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC2A10 : Stop Gained
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 20 NC_000020.11:g.46725684C>G
GRCh37.p13 chr 20 NC_000020.10:g.45354323C>G
SLC2A10 RefSeqGene NG_016284.1:g.21045C>G
Gene: SLC2A10, solute carrier family 2 member 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC2A10 transcript NM_030777.4:c.648C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 NP_110404.1:p.Tyr216Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X1 XM_011529060.2:c.711C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X1 XP_011527362.1:p.Tyr237Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X2 XM_011529061.2:c.657C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X2 XP_011527363.1:p.Tyr219Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X4 XM_011529062.2:c.711C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X3 XP_011527364.1:p.Tyr237Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X5 XM_011529063.2:c.711C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X4 XP_011527365.1:p.Tyr237Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X6 XM_011529064.2:c.711C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X5 XP_011527366.1:p.Tyr237Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X7 XM_011529065.2:c.711C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X6 XP_011527367.1:p.Tyr237Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X8 XM_017028087.2:c.648C>G Y [TAC] > * [TAG] Coding Sequence Variant
solute carrier family 2, facilitated glucose transporter member 10 isoform X7 XP_016883576.1:p.Tyr216Ter Y (Tyr) > * (Ter) Stop Gained
SLC2A10 transcript variant X3 XR_936641.2:n.834C>G N/A Non Coding 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.

Allele: G (allele ID: 469401 )
ClinVar Accession Disease Names Clinical Significance
RCV000559415.3 Arterial tortuosity syndrome Pathogenic
RCV000606630.1 Familial thoracic aortic aneurysm and aortic dissection Pathogenic

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 C=1.00000 G=0.00000
European Sub 9690 C=1.0000 G=0.0000
African Sub 2898 C=1.0000 G=0.0000
African Others Sub 114 C=1.000 G=0.000
African American Sub 2784 C=1.0000 G=0.0000
Asian Sub 112 C=1.000 G=0.000
East Asian Sub 86 C=1.00 G=0.00
Other Asian Sub 26 C=1.00 G=0.00
Latin American 1 Sub 146 C=1.000 G=0.000
Latin American 2 Sub 610 C=1.000 G=0.000
South Asian Sub 98 C=1.00 G=0.00
Other Sub 496 C=1.000 G=0.000


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
TopMed Global Study-wide 264690 C=0.999981 G=0.000019
gnomAD - Genomes Global Study-wide 140294 C=0.999986 G=0.000014
gnomAD - Genomes European Sub 75962 C=0.99999 G=0.00001
gnomAD - Genomes African Sub 42054 C=0.99998 G=0.00002
gnomAD - Genomes American Sub 13670 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 14050 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00
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
GRCh38.p13 chr 20 NC_000020.11:g.46725684= NC_000020.11:g.46725684C>G
GRCh37.p13 chr 20 NC_000020.10:g.45354323= NC_000020.10:g.45354323C>G
SLC2A10 RefSeqGene NG_016284.1:g.21045= NG_016284.1:g.21045C>G
SLC2A10 transcript NM_030777.4:c.648= NM_030777.4:c.648C>G
SLC2A10 transcript NM_030777.3:c.648= NM_030777.3:c.648C>G
SLC2A10 transcript variant X2 XM_011529061.2:c.657= XM_011529061.2:c.657C>G
SLC2A10 transcript variant X3 XR_936641.2:n.834= XR_936641.2:n.834C>G
SLC2A10 transcript variant X1 XM_011529060.2:c.711= XM_011529060.2:c.711C>G
SLC2A10 transcript variant X4 XM_011529062.2:c.711= XM_011529062.2:c.711C>G
SLC2A10 transcript variant X7 XM_011529065.2:c.711= XM_011529065.2:c.711C>G
SLC2A10 transcript variant X8 XM_017028087.2:c.648= XM_017028087.2:c.648C>G
SLC2A10 transcript variant X5 XM_011529063.2:c.711= XM_011529063.2:c.711C>G
SLC2A10 transcript variant X6 XM_011529064.2:c.711= XM_011529064.2:c.711C>G
solute carrier family 2, facilitated glucose transporter member 10 NP_110404.1:p.Tyr216= NP_110404.1:p.Tyr216Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X2 XP_011527363.1:p.Tyr219= XP_011527363.1:p.Tyr219Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X1 XP_011527362.1:p.Tyr237= XP_011527362.1:p.Tyr237Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X3 XP_011527364.1:p.Tyr237= XP_011527364.1:p.Tyr237Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X6 XP_011527367.1:p.Tyr237= XP_011527367.1:p.Tyr237Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X7 XP_016883576.1:p.Tyr216= XP_016883576.1:p.Tyr216Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X4 XP_011527365.1:p.Tyr237= XP_011527365.1:p.Tyr237Ter
solute carrier family 2, facilitated glucose transporter member 10 isoform X5 XP_011527366.1:p.Tyr237= XP_011527366.1:p.Tyr237Ter
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, 3 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HUMAN_LONGEVITY ss2243169701 Dec 20, 2016 (150)
2 TOPMED ss3361741931 Nov 08, 2017 (151)
3 GNOMAD ss4354261522 Apr 26, 2021 (155)
4 TOPMED ss5090358307 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000020.11 - 46725684 Apr 26, 2021 (155)
6 TopMed NC_000020.11 - 46725684 Apr 26, 2021 (155)
7 ALFA NC_000020.11 - 46725684 Apr 26, 2021 (155)
8 ClinVar RCV000559415.3 Apr 26, 2021 (155)
9 ClinVar RCV000606630.1 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
RCV000559415.3, RCV000606630.1, 553295019, 228243789, 365467252, 749181045, ss2243169701, ss3361741931, ss4354261522, ss5090358307 NC_000020.11:46725683:C:G NC_000020.11:46725683:C:G (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
214087363 NC_000020.10:45354322:C:G NC_000020.11:46725683:C:G
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 rs1015798796

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.post596+ae089ad