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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.

rs2263

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr8:71160162 (GRCh38.p12) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.31387 (39412/125568, TOPMED)
G=0.2967 (9303/31354, GnomAD)
G=0.373 (1866/5008, 1000G) (+ 5 more)
G=0.168 (754/4480, Estonian)
G=0.132 (510/3854, ALSPAC)
G=0.132 (491/3708, TWINSUK)
G=0.17 (100/600, NorthernSweden)
G=0.31 (67/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105375894 : Intron Variant
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.p12 chr 8 NC_000008.11:g.71160162A>G
GRCh37.p13 chr 8 NC_000008.10:g.72072397A>G
Gene: LOC105375894, uncharacterized LOC105375894 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105375894 transcript XR_001745954.1:n. N/A Intron 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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 A=0.68613 G=0.31387
gnomAD - Genomes Global Study-wide 31354 A=0.7033 G=0.2967
gnomAD - Genomes European Sub 18890 A=0.8578 G=0.1422
gnomAD - Genomes African Sub 8686 A=0.346 G=0.654
gnomAD - Genomes East Asian Sub 1556 A=0.728 G=0.272
gnomAD - Genomes Other Sub 1086 A=0.812 G=0.188
gnomAD - Genomes American Sub 846 A=0.71 G=0.29
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.80 G=0.20
1000Genomes Global Study-wide 5008 A=0.627 G=0.373
1000Genomes African Sub 1322 A=0.305 G=0.695
1000Genomes East Asian Sub 1008 A=0.732 G=0.268
1000Genomes Europe Sub 1006 A=0.872 G=0.128
1000Genomes South Asian Sub 978 A=0.68 G=0.32
1000Genomes American Sub 694 A=0.66 G=0.34
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.832 G=0.168
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.868 G=0.132
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.868 G=0.132
Northern Sweden ACPOP Study-wide 600 A=0.83 G=0.17
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.69 G=0.31
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 A= G Note
GRCh38.p12 chr 8 NC_000008.11:g.71160162= NC_000008.11:g.71160162A>G
GRCh37.p13 chr 8 NC_000008.10:g.72072397= NC_000008.10:g.72072397A>G
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#.

63 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss2289 Sep 19, 2000 (36)
2 TSC-CSHL ss3051775 Jun 15, 2001 (96)
3 CSHL-HAPMAP ss17995039 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss20357685 Feb 27, 2004 (120)
5 SSAHASNP ss22781469 Apr 05, 2004 (121)
6 PERLEGEN ss23501911 Sep 20, 2004 (123)
7 ABI ss44888655 Mar 15, 2006 (126)
8 HGSV ss80660221 Dec 14, 2007 (130)
9 HUMANGENOME_JCVI ss98082309 Feb 03, 2009 (130)
10 BGI ss104541063 Dec 01, 2009 (131)
11 1000GENOMES ss113193861 Jan 25, 2009 (130)
12 ILLUMINA-UK ss116004076 Feb 14, 2009 (130)
13 ENSEMBL ss134343455 Dec 01, 2009 (131)
14 GMI ss156495820 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss162494388 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss164948883 Jul 04, 2010 (132)
17 BUSHMAN ss199310225 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss206503122 Jul 04, 2010 (132)
19 1000GENOMES ss223770845 Jul 14, 2010 (132)
20 1000GENOMES ss234482846 Jul 15, 2010 (132)
21 1000GENOMES ss241329989 Jul 15, 2010 (132)
22 GMI ss279858212 May 04, 2012 (137)
23 PJP ss294103060 May 09, 2011 (134)
24 ILLUMINA ss481872706 May 04, 2012 (137)
25 ILLUMINA ss485656969 May 04, 2012 (137)
26 ILLUMINA ss534421211 Sep 08, 2015 (146)
27 TISHKOFF ss560826127 Apr 25, 2013 (138)
28 SSMP ss655262220 Apr 25, 2013 (138)
29 ILLUMINA ss779923936 Sep 08, 2015 (146)
30 ILLUMINA ss781590383 Sep 08, 2015 (146)
31 ILLUMINA ss835402210 Sep 08, 2015 (146)
32 EVA-GONL ss985647377 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1075617572 Aug 21, 2014 (142)
34 1000GENOMES ss1330366640 Aug 21, 2014 (142)
35 DDI ss1431551921 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1582732209 Apr 01, 2015 (144)
37 EVA_DECODE ss1595247104 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1620908001 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1663902034 Apr 01, 2015 (144)
40 HAMMER_LAB ss1805589131 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1928933230 Feb 12, 2016 (147)
42 GENOMED ss1971006527 Jul 19, 2016 (147)
43 JJLAB ss2025168339 Sep 14, 2016 (149)
44 USC_VALOUEV ss2153394112 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2304169082 Dec 20, 2016 (150)
46 TOPMED ss2474026879 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2627062381 Nov 08, 2017 (151)
48 ILLUMINA ss2634760254 Nov 08, 2017 (151)
49 GRF ss2709167012 Nov 08, 2017 (151)
50 GNOMAD ss2868243148 Nov 08, 2017 (151)
51 SWEGEN ss3003383006 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3026369828 Nov 08, 2017 (151)
53 CSHL ss3348236884 Nov 08, 2017 (151)
54 TOPMED ss3565553861 Nov 08, 2017 (151)
55 ILLUMINA ss3630083633 Oct 12, 2018 (152)
56 ILLUMINA ss3632658756 Oct 12, 2018 (152)
57 ILLUMINA ss3642636908 Oct 12, 2018 (152)
58 URBANLAB ss3648939061 Oct 12, 2018 (152)
59 EGCUT_WGS ss3671072305 Jul 13, 2019 (153)
60 EVA_DECODE ss3722260459 Jul 13, 2019 (153)
61 ACPOP ss3735770172 Jul 13, 2019 (153)
62 EVA ss3768152657 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3811309443 Jul 13, 2019 (153)
64 1000Genomes NC_000008.10 - 72072397 Oct 12, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 72072397 Oct 12, 2018 (152)
66 Genetic variation in the Estonian population NC_000008.10 - 72072397 Oct 12, 2018 (152)
67 gnomAD - Genomes NC_000008.10 - 72072397 Jul 13, 2019 (153)
68 Northern Sweden NC_000008.10 - 72072397 Jul 13, 2019 (153)
69 TopMed NC_000008.11 - 71160162 Oct 12, 2018 (152)
70 UK 10K study - Twins NC_000008.10 - 72072397 Oct 12, 2018 (152)
71 A Vietnamese Genetic Variation Database NC_000008.10 - 72072397 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).

Associated ID History Updated (Build)
rs56938410 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80660221, ss113193861, ss116004076, ss162494388, ss164948883, ss199310225, ss206503122, ss279858212, ss294103060, ss485656969, ss1595247104 NC_000008.9:72234950:A:G NC_000008.11:71160161:A:G (self)
42508647, 23641842, 16810553, 116148704, 9055037, 23641842, 5258217, ss223770845, ss234482846, ss241329989, ss481872706, ss534421211, ss560826127, ss655262220, ss779923936, ss781590383, ss835402210, ss985647377, ss1075617572, ss1330366640, ss1431551921, ss1582732209, ss1620908001, ss1663902034, ss1805589131, ss1928933230, ss1971006527, ss2025168339, ss2153394112, ss2474026879, ss2627062381, ss2634760254, ss2709167012, ss2868243148, ss3003383006, ss3348236884, ss3630083633, ss3632658756, ss3642636908, ss3671072305, ss3735770172, ss3768152657 NC_000008.10:72072396:A:G NC_000008.11:71160161:A:G (self)
392403625, ss2304169082, ss3026369828, ss3565553861, ss3648939061, ss3722260459, ss3811309443 NC_000008.11:71160161:A:G NC_000008.11:71160161:A:G (self)
ss17995039, ss20357685, ss22781469 NT_008183.17:23914945:A:G NC_000008.11:71160161:A:G (self)
ss2289, ss3051775, ss23501911, ss44888655, ss98082309, ss104541063, ss134343455, ss156495820 NT_008183.19:23936797:A:G NC_000008.11:71160161:A:G (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 rs2263

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.post246+3cda961