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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.

rs11517311

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:73811 (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>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.3197 (1601/5008, 1000G)
A=0.3166 (1574/4972, ALFA)
G=0.2336 (684/2928, KOREAN) (+ 5 more)
A=0.013 (7/534, MGP)
A=0.264 (123/466, SGDP_PRJ)
C=0.242 (44/182, Qatari)
C=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TUBB8 : 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.p13 chr 10 NC_000010.11:g.73811C>A
GRCh38.p13 chr 10 NC_000010.11:g.73811C>G
GRCh37.p13 chr 10 NC_000010.10:g.119751C>A
GRCh37.p13 chr 10 NC_000010.10:g.119751C>G
TUBB8 RefSeqGene NG_046777.1:g.7645G>T
TUBB8 RefSeqGene NG_046777.1:g.7645G>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.63811C>A
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.63811C>G
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+263…

NM_001389618.1:c.-662+2630G>T

N/A Intron Variant
TUBB8 transcript variant 3 NM_001389619.1:c.-986+158…

NM_001389619.1:c.-986+158G>T

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

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 4972 C=0.2703 A=0.3166, G=0.4131
European Sub 4660 C=0.2230 A=0.3365, G=0.4406
African Sub 128 C=1.000 A=0.000, G=0.000
African Others Sub 16 C=1.00 A=0.00, G=0.00
African American Sub 112 C=1.000 A=0.000, G=0.000
Asian Sub 30 C=1.00 A=0.00, G=0.00
East Asian Sub 24 C=1.00 A=0.00, G=0.00
Other Asian Sub 6 C=1.0 A=0.0, G=0.0
Latin American 1 Sub 6 C=1.0 A=0.0, G=0.0
Latin American 2 Sub 106 C=1.000 A=0.000, G=0.000
South Asian Sub 12 C=1.00 A=0.00, G=0.00
Other Sub 30 C=0.77 A=0.20, G=0.03


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
1000Genomes Global Study-wide 5008 C=0.3197 A=0.2432, G=0.4371
1000Genomes African Sub 1322 C=0.2443 A=0.1377, G=0.6180
1000Genomes East Asian Sub 1008 C=0.5446 A=0.2272, G=0.2282
1000Genomes Europe Sub 1006 C=0.1610 A=0.3549, G=0.4841
1000Genomes South Asian Sub 978 C=0.362 A=0.322, G=0.316
1000Genomes American Sub 694 C=0.307 A=0.195, G=0.499
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.5867 A=0.1796, G=0.2336
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.987 A=0.013
SGDP_PRJ Global Study-wide 466 C=0.221 A=0.264, G=0.515
Qatari Global Study-wide 182 C=0.242 G=0.758
Siberian Global Study-wide 8 C=0.5 A=0.5
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= A G
GRCh38.p13 chr 10 NC_000010.11:g.73811= NC_000010.11:g.73811C>A NC_000010.11:g.73811C>G
GRCh37.p13 chr 10 NC_000010.10:g.119751= NC_000010.10:g.119751C>A NC_000010.10:g.119751C>G
TUBB8 RefSeqGene NG_046777.1:g.7645= NG_046777.1:g.7645G>T NG_046777.1:g.7645G>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.63811= NW_003571043.1:g.63811C>A NW_003571043.1:g.63811C>G
TUBB8 transcript variant 2 NM_001389618.1:c.-662+2630= NM_001389618.1:c.-662+2630G>T NM_001389618.1:c.-662+2630G>C
TUBB8 transcript variant 3 NM_001389619.1:c.-986+158= NM_001389619.1:c.-986+158G>T NM_001389619.1:c.-986+158G>C
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#.

41 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15889088 Feb 28, 2004 (120)
2 SSAHASNP ss20730391 Apr 05, 2004 (121)
3 ABI ss39837421 Mar 14, 2006 (126)
4 HGSV ss78314713 Dec 07, 2007 (129)
5 BCMHGSC_JDW ss88057372 Mar 23, 2008 (129)
6 HUMANGENOME_JCVI ss97613041 Feb 04, 2009 (130)
7 ENSEMBL ss107935962 Feb 04, 2009 (130)
8 ILLUMINA-UK ss118963187 Feb 15, 2009 (130)
9 BUSHMAN ss201023176 Jul 04, 2010 (132)
10 BL ss253971404 May 09, 2011 (134)
11 PJP ss290815761 May 09, 2011 (134)
12 1000GENOMES ss335882821 May 09, 2011 (134)
13 1000GENOMES ss1335912456 Aug 21, 2014 (142)
14 1000GENOMES ss1335912457 Aug 21, 2014 (142)
15 DDI ss1426189075 Apr 09, 2015 (144)
16 EVA_MGP ss1711245151 Apr 09, 2015 (144)
17 HAMMER_LAB ss1806212510 Sep 11, 2015 (146)
18 WEILL_CORNELL_DGM ss1930414633 Feb 17, 2016 (147)
19 USC_VALOUEV ss2154169549 Oct 12, 2018 (152)
20 GRF ss2698388945 Oct 12, 2018 (152)
21 GNOMAD ss2884517600 Oct 12, 2018 (152)
22 SWEGEN ss3005784106 Oct 12, 2018 (152)
23 SWEGEN ss3005784107 Oct 12, 2018 (152)
24 TOPMED ss3109329142 Nov 08, 2017 (151)
25 TOPMED ss3109329143 Nov 08, 2017 (151)
26 URBANLAB ss3649265463 Oct 12, 2018 (152)
27 EVA ss3747627215 Jul 13, 2019 (153)
28 PACBIO ss3786553465 Jul 13, 2019 (153)
29 PACBIO ss3791748120 Jul 13, 2019 (153)
30 PACBIO ss3796629742 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3812993188 Jul 13, 2019 (153)
32 KHV_HUMAN_GENOMES ss3812993189 Jul 13, 2019 (153)
33 EVA ss3831916685 Apr 26, 2020 (154)
34 EVA ss3839487131 Apr 26, 2020 (154)
35 EVA ss3844952597 Apr 26, 2020 (154)
36 SGDP_PRJ ss3873326210 Apr 26, 2020 (154)
37 KRGDB ss3921253091 Apr 26, 2020 (154)
38 GNOMAD ss4211407291 Apr 26, 2021 (155)
39 GNOMAD ss4211407292 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5195847539 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5195847540 Apr 26, 2021 (155)
42 1000Genomes NC_000010.10 - 119751 Oct 12, 2018 (152)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 340930465 (NC_000010.11:73810:C:A 36218/137850)
Row 340930466 (NC_000010.11:73810:C:G 72173/135180)

- Apr 26, 2021 (155)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 340930465 (NC_000010.11:73810:C:A 36218/137850)
Row 340930466 (NC_000010.11:73810:C:G 72173/135180)

- Apr 26, 2021 (155)
45 KOREAN population from KRGDB NC_000010.10 - 119751 Apr 26, 2020 (154)
46 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 119751 Apr 26, 2020 (154)
47 Qatari NC_000010.10 - 119751 Apr 26, 2020 (154)
48 SGDP_PRJ NC_000010.10 - 119751 Apr 26, 2020 (154)
49 Siberian NC_000010.10 - 119751 Apr 26, 2020 (154)
50 8.3KJPN

Submission ignored due to conflicting rows:
Row 53816846 (NC_000010.10:119750:C:A 2117/16760)
Row 53816847 (NC_000010.10:119750:C:G 4245/16760)

- Apr 26, 2021 (155)
51 8.3KJPN

Submission ignored due to conflicting rows:
Row 53816846 (NC_000010.10:119750:C:A 2117/16760)
Row 53816847 (NC_000010.10:119750:C:G 4245/16760)

- Apr 26, 2021 (155)
52 ALFA NC_000010.11 - 73811 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
48246144, 28430485, 360911, 25343190, 6685903, ss1335912456, ss1426189075, ss1711245151, ss2154169549, ss2698388945, ss2884517600, ss3005784106, ss3831916685, ss3873326210, ss3921253091, ss5195847539 NC_000010.10:119750:C:A NC_000010.11:73810:C:A (self)
5914039340, ss3109329142, ss3649265463, ss3812993189, ss4211407291 NC_000010.11:73810:C:A NC_000010.11:73810:C:A (self)
ss39837421, ss97613041 NT_008705.16:59750:C:A NC_000010.11:73810:C:A (self)
ss78314713 NC_000010.8:109750:C:G NC_000010.11:73810:C:G (self)
ss88057372, ss118963187, ss201023176, ss253971404, ss290815761 NC_000010.9:109750:C:G NC_000010.11:73810:C:G (self)
48246144, 28430485, 12456563, 25343190, ss335882821, ss1335912457, ss1806212510, ss1930414633, ss2884517600, ss3005784107, ss3747627215, ss3786553465, ss3791748120, ss3796629742, ss3839487131, ss3873326210, ss3921253091, ss5195847540 NC_000010.10:119750:C:G NC_000010.11:73810:C:G (self)
5914039340, ss3109329143, ss3649265463, ss3812993188, ss3844952597, ss4211407292 NC_000010.11:73810:C:G NC_000010.11:73810:C:G (self)
ss39837421, ss107935962 NT_008705.16:59750:C:G NC_000010.11:73810:C:G (self)
ss15889088, ss20730391 NT_077567.3:59750:C:G NC_000010.11:73810:C: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 rs11517311

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