Skip to main page content
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.

rs11253280

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:73872 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.430433 (59076/137248, GnomAD)
T=0.20268 (3397/16760, 8.3KJPN)
T=0.44389 (7412/16698, ALFA) (+ 11 more)
T=0.4579 (2293/5008, 1000G)
T=0.4146 (1598/3854, ALSPAC)
T=0.4129 (1531/3708, TWINSUK)
T=0.2881 (843/2926, KOREAN)
T=0.2805 (510/1818, Korea1K)
T=0.433 (432/998, GoNL)
T=0.440 (264/600, NorthernSweden)
T=0.052 (28/534, MGP)
C=0.317 (106/334, SGDP_PRJ)
T=0.477 (102/214, Qatari)
C=0.39 (11/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TUBB8 : Intron 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16698 C=0.55611 T=0.44389
European Sub 12210 C=0.57240 T=0.42760
African Sub 2864 C=0.4626 T=0.5374
African Others Sub 108 C=0.528 T=0.472
African American Sub 2756 C=0.4601 T=0.5399
Asian Sub 108 C=0.657 T=0.343
East Asian Sub 84 C=0.64 T=0.36
Other Asian Sub 24 C=0.71 T=0.29
Latin American 1 Sub 146 C=0.548 T=0.452
Latin American 2 Sub 610 C=0.679 T=0.321
South Asian Sub 94 C=0.56 T=0.44
Other Sub 666 C=0.532 T=0.468


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 - Genomes Global Study-wide 137248 C=0.569567 T=0.430433
gnomAD - Genomes European Sub 74628 C=0.58620 T=0.41380
gnomAD - Genomes African Sub 40690 C=0.49985 T=0.50015
gnomAD - Genomes American Sub 13412 C=0.65218 T=0.34782
gnomAD - Genomes Ashkenazi Jewish Sub 3292 C=0.6349 T=0.3651
gnomAD - Genomes East Asian Sub 3124 C=0.6421 T=0.3579
gnomAD - Genomes Other Sub 2102 C=0.5913 T=0.4087
8.3KJPN JAPANESE Study-wide 16760 C=0.79732 T=0.20268
1000Genomes Global Study-wide 5008 C=0.5421 T=0.4579
1000Genomes African Sub 1322 C=0.3533 T=0.6467
1000Genomes East Asian Sub 1008 C=0.6647 T=0.3353
1000Genomes Europe Sub 1006 C=0.5437 T=0.4563
1000Genomes South Asian Sub 978 C=0.610 T=0.390
1000Genomes American Sub 694 C=0.625 T=0.375
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5854 T=0.4146
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5871 T=0.4129
KOREAN population from KRGDB KOREAN Study-wide 2926 C=0.7119 T=0.2881
Korean Genome Project KOREAN Study-wide 1818 C=0.7195 T=0.2805
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.567 T=0.433
Northern Sweden ACPOP Study-wide 600 C=0.560 T=0.440
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.948 T=0.052
SGDP_PRJ Global Study-wide 334 C=0.317 T=0.683
Qatari Global Study-wide 214 C=0.523 T=0.477
Siberian Global Study-wide 28 C=0.39 T=0.61
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 10 NC_000010.11:g.73872C>T
GRCh37.p13 chr 10 NC_000010.10:g.119812C>T
TUBB8 RefSeqGene NG_046777.1:g.7584G>A
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.63872C>T
Gene: TUBB8, tubulin beta 8 class VIII (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TUBB8 transcript variant 2 NM_001389618.1:c.-662+256…

NM_001389618.1:c.-662+2569G>A

N/A Intron Variant
TUBB8 transcript variant 3 NM_001389619.1:c.-986+97G…

NM_001389619.1:c.-986+97G>A

N/A Intron Variant
TUBB8 transcript variant 1 NM_177987.3:c. N/A Genic Upstream Transcript Variant
TUBB8 transcript variant X3 XM_011519460.2:c. N/A Genic Upstream Transcript Variant
TUBB8 transcript variant X1 XM_017016192.2:c. N/A Genic Upstream Transcript Variant
TUBB8 transcript variant X2 XM_017016193.2:c. N/A Genic Upstream 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 C= T
GRCh38.p13 chr 10 NC_000010.11:g.73872= NC_000010.11:g.73872C>T
GRCh37.p13 chr 10 NC_000010.10:g.119812= NC_000010.10:g.119812C>T
TUBB8 RefSeqGene NG_046777.1:g.7584= NG_046777.1:g.7584G>A
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.63872= NW_003571043.1:g.63872C>T
TUBB8 transcript variant 2 NM_001389618.1:c.-662+2569= NM_001389618.1:c.-662+2569G>A
TUBB8 transcript variant 3 NM_001389619.1:c.-986+97= NM_001389619.1:c.-986+97G>A
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#.

46 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss16015203 Feb 27, 2004 (120)
2 SC_SNP ss18452522 Feb 27, 2004 (120)
3 SSAHASNP ss20731356 Apr 05, 2004 (121)
4 HUMANGENOME_JCVI ss97527210 Feb 06, 2009 (130)
5 BGI ss102844548 Feb 13, 2009 (130)
6 1000GENOMES ss109145683 Jan 23, 2009 (130)
7 ILLUMINA-UK ss118963192 Feb 15, 2009 (130)
8 ENSEMBL ss138820557 Dec 01, 2009 (131)
9 BUSHMAN ss201023187 Jul 04, 2010 (132)
10 BCM-HGSC-SUB ss207288818 Jul 04, 2010 (132)
11 1000GENOMES ss224512297 Jul 14, 2010 (132)
12 1000GENOMES ss235012201 Jul 15, 2010 (132)
13 1000GENOMES ss241753188 Jul 15, 2010 (132)
14 GMI ss280440345 May 04, 2012 (137)
15 PJP ss290815763 May 09, 2011 (134)
16 SSMP ss656208198 Apr 25, 2013 (138)
17 EVA-GONL ss987096670 Aug 21, 2014 (142)
18 1000GENOMES ss1335912460 Aug 21, 2014 (142)
19 DDI ss1426189077 Apr 09, 2015 (144)
20 EVA_UK10K_ALSPAC ss1623797445 Apr 09, 2015 (144)
21 EVA_UK10K_TWINSUK ss1666791478 Apr 09, 2015 (144)
22 EVA_MGP ss1711245153 Apr 09, 2015 (144)
23 HAMMER_LAB ss1806212512 Sep 11, 2015 (146)
24 WEILL_CORNELL_DGM ss1930414635 Feb 17, 2016 (147)
25 ILLUMINA ss1959231557 Feb 17, 2016 (147)
26 JJLAB ss2025929512 Sep 28, 2016 (149)
27 USC_VALOUEV ss2154169551 Oct 12, 2018 (152)
28 SYSTEMSBIOZJU ss2627432599 Oct 12, 2018 (152)
29 GRF ss2698388947 Oct 12, 2018 (152)
30 GNOMAD ss2884517605 Oct 12, 2018 (152)
31 SWEGEN ss3005784110 Oct 12, 2018 (152)
32 ILLUMINA ss3021204998 Oct 12, 2018 (152)
33 BIOINF_KMB_FNS_UNIBA ss3026746687 Nov 08, 2017 (151)
34 TOPMED ss3109329158 Nov 08, 2017 (151)
35 CSHL ss3348911535 Oct 12, 2018 (152)
36 URBANLAB ss3649265465 Oct 12, 2018 (152)
37 ILLUMINA ss3651551850 Oct 12, 2018 (152)
38 ACPOP ss3736974223 Jul 13, 2019 (153)
39 EVA ss3747627217 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3812993191 Jul 13, 2019 (153)
41 EVA ss3831916687 Apr 26, 2020 (154)
42 SGDP_PRJ ss3873326212 Apr 26, 2020 (154)
43 KRGDB ss3921253094 Apr 26, 2020 (154)
44 KOGIC ss3967022545 Apr 26, 2020 (154)
45 GNOMAD ss4211407303 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5195847543 Apr 26, 2021 (155)
47 1000Genomes NC_000010.10 - 119812 Oct 12, 2018 (152)
48 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 119812 Oct 12, 2018 (152)
49 gnomAD - Genomes NC_000010.11 - 73872 Apr 26, 2021 (155)
50 Genome of the Netherlands Release 5 NC_000010.10 - 119812 Apr 26, 2020 (154)
51 KOREAN population from KRGDB NC_000010.10 - 119812 Apr 26, 2020 (154)
52 Korean Genome Project NC_000010.11 - 73872 Apr 26, 2020 (154)
53 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 119812 Apr 26, 2020 (154)
54 Northern Sweden NC_000010.10 - 119812 Jul 13, 2019 (153)
55 Qatari NC_000010.10 - 119812 Apr 26, 2020 (154)
56 SGDP_PRJ NC_000010.10 - 119812 Apr 26, 2020 (154)
57 Siberian NC_000010.10 - 119812 Apr 26, 2020 (154)
58 8.3KJPN NC_000010.10 - 119812 Apr 26, 2021 (155)
59 UK 10K study - Twins NC_000010.10 - 119812 Oct 12, 2018 (152)
60 ALFA NC_000010.11 - 73872 Apr 26, 2021 (155)
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
ss109145683, ss118963192, ss201023187, ss207288818, ss280440345, ss290815763 NC_000010.9:109811:C:T NC_000010.11:73871:C:T (self)
48246147, 26806206, 11953809, 28430488, 360913, 10259088, 12456565, 25343192, 6685905, 53816850, 26806206, ss224512297, ss235012201, ss241753188, ss656208198, ss987096670, ss1335912460, ss1426189077, ss1623797445, ss1666791478, ss1711245153, ss1806212512, ss1930414635, ss1959231557, ss2025929512, ss2154169551, ss2627432599, ss2698388947, ss2884517605, ss3005784110, ss3021204998, ss3348911535, ss3651551850, ss3736974223, ss3747627217, ss3831916687, ss3873326212, ss3921253094, ss5195847543 NC_000010.10:119811:C:T NC_000010.11:73871:C:T (self)
340930477, 23400546, 13209060809, ss3026746687, ss3109329158, ss3649265465, ss3812993191, ss3967022545, ss4211407303 NC_000010.11:73871:C:T NC_000010.11:73871:C:T (self)
ss97527210, ss102844548, ss138820557 NT_008705.16:59811:C:T NC_000010.11:73871:C:T (self)
ss16015203, ss18452522, ss20731356 NT_077567.3:59811:C:T NC_000010.11:73871: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 rs11253280

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.post629+eb05767