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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.

rs202208526

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:44114214 (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
T=0.000019 (5/264690, TOPMED)
T=0.000032 (8/251450, GnomAD_exome)
T=0.000014 (2/140198, GnomAD) (+ 2 more)
T=0.000008 (1/121398, ExAC)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
EXT2 : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 C=1.00000 T=0.00000
European Sub 9690 C=1.0000 T=0.0000
African Sub 2898 C=1.0000 T=0.0000
African Others Sub 114 C=1.000 T=0.000
African American Sub 2784 C=1.0000 T=0.0000
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 496 C=1.000 T=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 T=0.000019
gnomAD - Exomes Global Study-wide 251450 C=0.999968 T=0.000032
gnomAD - Exomes European Sub 135374 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49010 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34590 C=0.99986 T=0.00014
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6140 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140198 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75908 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42024 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13658 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
ExAC Global Study-wide 121398 C=0.999992 T=0.000008
ExAC Europe Sub 73348 C=0.99999 T=0.00001
ExAC Asian Sub 25166 C=1.00000 T=0.00000
ExAC American Sub 11570 C=1.00000 T=0.00000
ExAC African Sub 10406 C=1.00000 T=0.00000
ExAC Other Sub 908 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 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.44114214C>G
GRCh38.p14 chr 11 NC_000011.10:g.44114214C>T
GRCh37.p13 chr 11 NC_000011.9:g.44135764C>G
GRCh37.p13 chr 11 NC_000011.9:g.44135764C>T
EXT2 RefSeqGene (LRG_494) NG_007560.1:g.23666C>G
EXT2 RefSeqGene (LRG_494) NG_007560.1:g.23666C>T
Gene: EXT2, exostosin glycosyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EXT2 transcript variant 1 NM_000401.3:c.755C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform 1 NP_000392.3:p.Thr252Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant 1 NM_000401.3:c.755C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform 1 NP_000392.3:p.Thr252Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant 2 NM_207122.2:c.656C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform 2 NP_997005.1:p.Thr219Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant 2 NM_207122.2:c.656C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform 2 NP_997005.1:p.Thr219Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant 3 NM_001178083.3:c.656C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform 3 NP_001171554.1:p.Thr219Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant 3 NM_001178083.3:c.656C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform 3 NP_001171554.1:p.Thr219Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant 5 NM_001389630.1:c.656C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform 2 NP_001376559.1:p.Thr219Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant 5 NM_001389630.1:c.656C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform 2 NP_001376559.1:p.Thr219Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant 4 NM_001389628.1:c.656C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform 2 NP_001376557.1:p.Thr219Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant 4 NM_001389628.1:c.656C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform 2 NP_001376557.1:p.Thr219Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant X1 XM_011519950.2:c.794C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform X1 XP_011518252.1:p.Thr265Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant X1 XM_011519950.2:c.794C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform X1 XP_011518252.1:p.Thr265Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant X2 XM_047426528.1:c.710C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform X2 XP_047282484.1:p.Thr237Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant X2 XM_047426528.1:c.710C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform X2 XP_047282484.1:p.Thr237Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant X3 XM_047426529.1:c.710C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform X2 XP_047282485.1:p.Thr237Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant X3 XM_047426529.1:c.710C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform X2 XP_047282485.1:p.Thr237Met T (Thr) > M (Met) Missense Variant
EXT2 transcript variant X4 XM_047426530.1:c.656C>G T [ACG] > R [AGG] Coding Sequence Variant
exostosin-2 isoform X3 XP_047282486.1:p.Thr219Arg T (Thr) > R (Arg) Missense Variant
EXT2 transcript variant X4 XM_047426530.1:c.656C>T T [ACG] > M [ATG] Coding Sequence Variant
exostosin-2 isoform X3 XP_047282486.1:p.Thr219Met T (Thr) > M (Met) Missense 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: T (allele ID: 640052 )
ClinVar Accession Disease Names Clinical Significance
RCV000814766.6 Exostoses, multiple, type 2 Uncertain-Significance
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.44114214= NC_000011.10:g.44114214C>G NC_000011.10:g.44114214C>T
GRCh37.p13 chr 11 NC_000011.9:g.44135764= NC_000011.9:g.44135764C>G NC_000011.9:g.44135764C>T
EXT2 RefSeqGene (LRG_494) NG_007560.1:g.23666= NG_007560.1:g.23666C>G NG_007560.1:g.23666C>T
EXT2 transcript variant 1 NM_000401.3:c.755= NM_000401.3:c.755C>G NM_000401.3:c.755C>T
EXT2 transcript variant 2 NM_207122.1:c.656= NM_207122.1:c.656C>G NM_207122.1:c.656C>T
EXT2 transcript variant 2 NM_207122.2:c.656= NM_207122.2:c.656C>G NM_207122.2:c.656C>T
EXT2 transcript variant 3 NM_001178083.3:c.656= NM_001178083.3:c.656C>G NM_001178083.3:c.656C>T
EXT2 transcript variant 3 NM_001178083.2:c.656= NM_001178083.2:c.656C>G NM_001178083.2:c.656C>T
EXT2 transcript variant 3 NM_001178083.1:c.656= NM_001178083.1:c.656C>G NM_001178083.1:c.656C>T
EXT2 transcript variant X1 XM_011519950.2:c.794= XM_011519950.2:c.794C>G XM_011519950.2:c.794C>T
EXT2 transcript variant X1 XM_011519950.1:c.794= XM_011519950.1:c.794C>G XM_011519950.1:c.794C>T
EXT2 transcript variant X3 XM_047426529.1:c.710= XM_047426529.1:c.710C>G XM_047426529.1:c.710C>T
EXT2 transcript variant X2 XM_047426528.1:c.710= XM_047426528.1:c.710C>G XM_047426528.1:c.710C>T
EXT2 transcript variant 5 NM_001389630.1:c.656= NM_001389630.1:c.656C>G NM_001389630.1:c.656C>T
EXT2 transcript variant 4 NM_001389628.1:c.656= NM_001389628.1:c.656C>G NM_001389628.1:c.656C>T
EXT2 transcript variant X4 XM_047426530.1:c.656= XM_047426530.1:c.656C>G XM_047426530.1:c.656C>T
exostosin-2 isoform 1 NP_000392.3:p.Thr252= NP_000392.3:p.Thr252Arg NP_000392.3:p.Thr252Met
exostosin-2 isoform 2 NP_997005.1:p.Thr219= NP_997005.1:p.Thr219Arg NP_997005.1:p.Thr219Met
exostosin-2 isoform 3 NP_001171554.1:p.Thr219= NP_001171554.1:p.Thr219Arg NP_001171554.1:p.Thr219Met
exostosin-2 isoform X1 XP_011518252.1:p.Thr265= XP_011518252.1:p.Thr265Arg XP_011518252.1:p.Thr265Met
exostosin-2 isoform X2 XP_047282485.1:p.Thr237= XP_047282485.1:p.Thr237Arg XP_047282485.1:p.Thr237Met
exostosin-2 isoform X2 XP_047282484.1:p.Thr237= XP_047282484.1:p.Thr237Arg XP_047282484.1:p.Thr237Met
exostosin-2 isoform 2 NP_001376559.1:p.Thr219= NP_001376559.1:p.Thr219Arg NP_001376559.1:p.Thr219Met
exostosin-2 isoform 2 NP_001376557.1:p.Thr219= NP_001376557.1:p.Thr219Arg NP_001376557.1:p.Thr219Met
exostosin-2 isoform X3 XP_047282486.1:p.Thr219= XP_047282486.1:p.Thr219Arg XP_047282486.1:p.Thr219Met
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#.

10 SubSNP, 5 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss488957357 May 04, 2012 (137)
2 EVA_EXAC ss1690329077 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2182171156 Dec 20, 2016 (150)
4 GNOMAD ss2738909523 Nov 08, 2017 (151)
5 GNOMAD ss4234212226 Apr 26, 2021 (155)
6 TOPMED ss4883581609 Apr 26, 2021 (155)
7 EVA ss5847630387 Oct 16, 2022 (156)
8 EVA ss5936047600 Oct 16, 2022 (156)
9 EVA ss5936047601 Oct 16, 2022 (156)
10 EVA ss5979357294 Oct 16, 2022 (156)
11 ExAC NC_000011.9 - 44135764 Oct 12, 2018 (152)
12 gnomAD - Genomes NC_000011.10 - 44114214 Apr 26, 2021 (155)
13 gnomAD - Exomes NC_000011.9 - 44135764 Jul 13, 2019 (153)
14 TopMed NC_000011.10 - 44114214 Apr 26, 2021 (155)
15 ALFA NC_000011.10 - 44114214 Apr 26, 2021 (155)
16 ClinVar RCV000814766.6 Oct 16, 2022 (156)
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
ss5936047600, ss5936047601 NC_000011.9:44135763:C:G NC_000011.10:44114213:C:G
582488, 8122154, ss488957357, ss1690329077, ss2738909523, ss5847630387, ss5936047600, ss5979357294 NC_000011.9:44135763:C:T NC_000011.10:44114213:C:T (self)
RCV000814766.6, 378269969, 99127265, 2639713341, ss2182171156, ss4234212226, ss4883581609 NC_000011.10:44114213:C:T NC_000011.10:44114213: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 rs202208526

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