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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.

rs11508026

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:56965416 (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=0.303820 (80418/264690, TOPMED)
T=0.318278 (44361/139378, GnomAD)
T=0.23184 (18245/78696, PAGE_STUDY) (+ 17 more)
T=0.36149 (12404/34314, ALFA)
T=0.30574 (5123/16756, 8.3KJPN)
T=0.2867 (1436/5008, 1000G)
T=0.4580 (2052/4480, Estonian)
T=0.4382 (1689/3854, ALSPAC)
T=0.4480 (1661/3708, TWINSUK)
T=0.2693 (789/2930, KOREAN)
T=0.2866 (525/1832, Korea1K)
T=0.4584 (518/1130, Daghestan)
T=0.418 (417/998, GoNL)
T=0.460 (276/600, NorthernSweden)
T=0.290 (94/324, HapMap)
C=0.381 (112/294, SGDP_PRJ)
T=0.347 (75/216, Qatari)
T=0.280 (60/214, Vietnamese)
C=0.35 (14/40, GENOME_DK)
C=0.30 (9/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CETP : Intron Variant
Publications
6 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 16 NC_000016.10:g.56965416C>T
GRCh37.p13 chr 16 NC_000016.9:g.56999328C>T
CETP RefSeqGene NG_008952.1:g.8494C>T
Gene: CETP, cholesteryl ester transfer protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CETP transcript variant 1 NM_000078.3:c.233+2292C>T N/A Intron Variant
CETP transcript variant 2 NM_001286085.2:c.233+2292…

NM_001286085.2:c.233+2292C>T

N/A Intron Variant
CETP transcript variant X1 XM_006721124.3:c.233+2292…

XM_006721124.3:c.233+2292C>T

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

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 34314 C=0.63851 T=0.36149
European Sub 24896 C=0.57089 T=0.42911
African Sub 6240 C=0.9042 T=0.0958
African Others Sub 208 C=0.947 T=0.053
African American Sub 6032 C=0.9027 T=0.0973
Asian Sub 164 C=0.750 T=0.250
East Asian Sub 136 C=0.743 T=0.257
Other Asian Sub 28 C=0.79 T=0.21
Latin American 1 Sub 168 C=0.702 T=0.298
Latin American 2 Sub 700 C=0.604 T=0.396
South Asian Sub 122 C=0.516 T=0.484
Other Sub 2024 C=0.6561 T=0.3439


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=0.696180 T=0.303820
gnomAD - Genomes Global Study-wide 139378 C=0.681722 T=0.318278
gnomAD - Genomes European Sub 75638 C=0.56665 T=0.43335
gnomAD - Genomes African Sub 41588 C=0.90048 T=0.09952
gnomAD - Genomes American Sub 13592 C=0.66480 T=0.33520
gnomAD - Genomes Ashkenazi Jewish Sub 3296 C=0.6098 T=0.3902
gnomAD - Genomes East Asian Sub 3114 C=0.7110 T=0.2890
gnomAD - Genomes Other Sub 2150 C=0.6735 T=0.3265
The PAGE Study Global Study-wide 78696 C=0.76816 T=0.23184
The PAGE Study AfricanAmerican Sub 32516 C=0.89104 T=0.10896
The PAGE Study Mexican Sub 10806 C=0.64131 T=0.35869
The PAGE Study Asian Sub 8316 C=0.6834 T=0.3166
The PAGE Study PuertoRican Sub 7918 C=0.7247 T=0.2753
The PAGE Study NativeHawaiian Sub 4534 C=0.6742 T=0.3258
The PAGE Study Cuban Sub 4230 C=0.6787 T=0.3213
The PAGE Study Dominican Sub 3828 C=0.7667 T=0.2333
The PAGE Study CentralAmerican Sub 2450 C=0.6951 T=0.3049
The PAGE Study SouthAmerican Sub 1982 C=0.6478 T=0.3522
The PAGE Study NativeAmerican Sub 1260 C=0.6325 T=0.3675
The PAGE Study SouthAsian Sub 856 C=0.561 T=0.439
8.3KJPN JAPANESE Study-wide 16756 C=0.69426 T=0.30574
1000Genomes Global Study-wide 5008 C=0.7133 T=0.2867
1000Genomes African Sub 1322 C=0.9576 T=0.0424
1000Genomes East Asian Sub 1008 C=0.7073 T=0.2927
1000Genomes Europe Sub 1006 C=0.5775 T=0.4225
1000Genomes South Asian Sub 978 C=0.557 T=0.443
1000Genomes American Sub 694 C=0.673 T=0.327
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5420 T=0.4580
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5618 T=0.4382
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5520 T=0.4480
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7307 T=0.2693
Korean Genome Project KOREAN Study-wide 1832 C=0.7134 T=0.2866
Genome-wide autozygosity in Daghestan Global Study-wide 1130 C=0.5416 T=0.4584
Genome-wide autozygosity in Daghestan Daghestan Sub 622 C=0.521 T=0.479
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.583 T=0.417
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.574 T=0.426
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.546 T=0.454
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.52 T=0.48
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.67 T=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.582 T=0.418
Northern Sweden ACPOP Study-wide 600 C=0.540 T=0.460
HapMap Global Study-wide 324 C=0.710 T=0.290
HapMap African Sub 118 C=0.949 T=0.051
HapMap American Sub 118 C=0.508 T=0.492
HapMap Asian Sub 88 C=0.66 T=0.34
SGDP_PRJ Global Study-wide 294 C=0.381 T=0.619
Qatari Global Study-wide 216 C=0.653 T=0.347
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.720 T=0.280
The Danish reference pan genome Danish Study-wide 40 C=0.35 T=0.65
Siberian Global Study-wide 30 C=0.30 T=0.70
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 16 NC_000016.10:g.56965416= NC_000016.10:g.56965416C>T
GRCh37.p13 chr 16 NC_000016.9:g.56999328= NC_000016.9:g.56999328C>T
CETP RefSeqGene NG_008952.1:g.8494= NG_008952.1:g.8494C>T
CETP transcript variant 1 NM_000078.2:c.233+2292= NM_000078.2:c.233+2292C>T
CETP transcript variant 1 NM_000078.3:c.233+2292= NM_000078.3:c.233+2292C>T
CETP transcript variant 2 NM_001286085.2:c.233+2292= NM_001286085.2:c.233+2292C>T
CETP transcript variant X1 XM_005255776.1:c.233+2292= XM_005255776.1:c.233+2292C>T
CETP transcript variant X1 XM_006721124.3:c.233+2292= XM_006721124.3:c.233+2292C>T
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#.

73 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss15723184 Feb 28, 2004 (120)
2 PERLEGEN ss24432801 Sep 20, 2004 (123)
3 AFFY ss74848920 Aug 16, 2007 (128)
4 HGSV ss77300275 Dec 07, 2007 (129)
5 HGSV ss82166408 Dec 15, 2007 (130)
6 HUMANGENOME_JCVI ss96685298 Feb 05, 2009 (130)
7 1000GENOMES ss109350841 Jan 24, 2009 (130)
8 ENSEMBL ss143335631 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss168275975 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss171291777 Jul 04, 2010 (132)
11 1000GENOMES ss227262021 Jul 14, 2010 (132)
12 1000GENOMES ss237039597 Jul 15, 2010 (132)
13 1000GENOMES ss243376561 Jul 15, 2010 (132)
14 ILLUMINA ss244272561 Jul 04, 2010 (132)
15 BL ss255729951 May 09, 2011 (134)
16 GMI ss282546423 May 04, 2012 (137)
17 GMI ss287081800 Apr 25, 2013 (138)
18 PJP ss291850467 May 09, 2011 (134)
19 ILLUMINA ss483202294 May 04, 2012 (137)
20 ILLUMINA ss483521605 May 04, 2012 (137)
21 ILLUMINA ss535422322 Sep 08, 2015 (146)
22 TISHKOFF ss564922144 Apr 25, 2013 (138)
23 SSMP ss660696158 Apr 25, 2013 (138)
24 ILLUMINA ss780189193 Sep 08, 2015 (146)
25 ILLUMINA ss782044448 Sep 08, 2015 (146)
26 ILLUMINA ss835673542 Sep 08, 2015 (146)
27 EVA-GONL ss992526084 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1080650710 Aug 21, 2014 (142)
29 1000GENOMES ss1356389592 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397716456 Sep 08, 2015 (146)
31 DDI ss1427858477 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1577928664 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1634499436 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1677493469 Apr 01, 2015 (144)
35 EVA_DECODE ss1696560617 Apr 01, 2015 (144)
36 WEILL_CORNELL_DGM ss1935962321 Feb 12, 2016 (147)
37 ILLUMINA ss1959681918 Feb 12, 2016 (147)
38 GENOMED ss1968270404 Jul 19, 2016 (147)
39 JJLAB ss2028764617 Sep 14, 2016 (149)
40 USC_VALOUEV ss2157201154 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2212446576 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2628873906 Nov 08, 2017 (151)
43 ILLUMINA ss2633322713 Nov 08, 2017 (151)
44 GRF ss2701725827 Nov 08, 2017 (151)
45 GNOMAD ss2943414680 Nov 08, 2017 (151)
46 SWEGEN ss3014571134 Nov 08, 2017 (151)
47 ILLUMINA ss3021709803 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3028200997 Nov 08, 2017 (151)
49 TOPMED ss3247449621 Nov 08, 2017 (151)
50 CSHL ss3351468594 Nov 08, 2017 (151)
51 ILLUMINA ss3627531749 Oct 12, 2018 (152)
52 ILLUMINA ss3631308874 Oct 12, 2018 (152)
53 ILLUMINA ss3641957297 Oct 12, 2018 (152)
54 URBANLAB ss3650518080 Oct 12, 2018 (152)
55 ILLUMINA ss3652118786 Oct 12, 2018 (152)
56 EGCUT_WGS ss3681546726 Jul 13, 2019 (153)
57 EVA_DECODE ss3699333752 Jul 13, 2019 (153)
58 ILLUMINA ss3725565179 Jul 13, 2019 (153)
59 ACPOP ss3741542223 Jul 13, 2019 (153)
60 EVA ss3753982495 Jul 13, 2019 (153)
61 PAGE_CC ss3771881891 Jul 13, 2019 (153)
62 PACBIO ss3788049973 Jul 13, 2019 (153)
63 PACBIO ss3793031285 Jul 13, 2019 (153)
64 PACBIO ss3797916280 Jul 13, 2019 (153)
65 KHV_HUMAN_GENOMES ss3819269219 Jul 13, 2019 (153)
66 EVA ss3834588267 Apr 27, 2020 (154)
67 EVA ss3840899807 Apr 27, 2020 (154)
68 EVA ss3846391735 Apr 27, 2020 (154)
69 SGDP_PRJ ss3884512565 Apr 27, 2020 (154)
70 KRGDB ss3934004657 Apr 27, 2020 (154)
71 KOGIC ss3977657536 Apr 27, 2020 (154)
72 TOPMED ss5016621243 Apr 27, 2021 (155)
73 TOMMO_GENOMICS ss5219733231 Apr 27, 2021 (155)
74 1000Genomes NC_000016.9 - 56999328 Oct 12, 2018 (152)
75 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 56999328 Oct 12, 2018 (152)
76 Genome-wide autozygosity in Daghestan NC_000016.8 - 55556829 Apr 27, 2020 (154)
77 Genetic variation in the Estonian population NC_000016.9 - 56999328 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000016.9 - 56999328 Apr 27, 2020 (154)
79 gnomAD - Genomes NC_000016.10 - 56965416 Apr 27, 2021 (155)
80 Genome of the Netherlands Release 5 NC_000016.9 - 56999328 Apr 27, 2020 (154)
81 HapMap NC_000016.10 - 56965416 Apr 27, 2020 (154)
82 KOREAN population from KRGDB NC_000016.9 - 56999328 Apr 27, 2020 (154)
83 Korean Genome Project NC_000016.10 - 56965416 Apr 27, 2020 (154)
84 Northern Sweden NC_000016.9 - 56999328 Jul 13, 2019 (153)
85 The PAGE Study NC_000016.10 - 56965416 Jul 13, 2019 (153)
86 Qatari NC_000016.9 - 56999328 Apr 27, 2020 (154)
87 SGDP_PRJ NC_000016.9 - 56999328 Apr 27, 2020 (154)
88 Siberian NC_000016.9 - 56999328 Apr 27, 2020 (154)
89 8.3KJPN NC_000016.9 - 56999328 Apr 27, 2021 (155)
90 TopMed NC_000016.10 - 56965416 Apr 27, 2021 (155)
91 UK 10K study - Twins NC_000016.9 - 56999328 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000016.9 - 56999328 Jul 13, 2019 (153)
93 ALFA NC_000016.10 - 56965416 Apr 27, 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).

Associated ID History Updated (Build)
rs17290377 Oct 08, 2004 (123)
rs52796389 Sep 21, 2007 (128)
rs59763298 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
186447, ss77300275, ss82166408, ss109350841, ss168275975, ss171291777, ss255729951, ss282546423, ss287081800, ss291850467, ss483521605, ss1397716456, ss1696560617 NC_000016.8:55556828:C:T NC_000016.10:56965415:C:T (self)
69556630, 38582883, 27284974, 4140580, 17205394, 41182051, 14827088, 18004243, 36529545, 9717508, 77702538, 38582883, 8560243, ss227262021, ss237039597, ss243376561, ss483202294, ss535422322, ss564922144, ss660696158, ss780189193, ss782044448, ss835673542, ss992526084, ss1080650710, ss1356389592, ss1427858477, ss1577928664, ss1634499436, ss1677493469, ss1935962321, ss1959681918, ss1968270404, ss2028764617, ss2157201154, ss2628873906, ss2633322713, ss2701725827, ss2943414680, ss3014571134, ss3021709803, ss3351468594, ss3627531749, ss3631308874, ss3641957297, ss3652118786, ss3681546726, ss3741542223, ss3753982495, ss3788049973, ss3793031285, ss3797916280, ss3834588267, ss3840899807, ss3884512565, ss3934004657, ss5219733231 NC_000016.9:56999327:C:T NC_000016.10:56965415:C:T (self)
490599724, 1389630, 34035537, 1103360, 144961457, 232166904, 3973874841, ss2212446576, ss3028200997, ss3247449621, ss3650518080, ss3699333752, ss3725565179, ss3771881891, ss3819269219, ss3846391735, ss3977657536, ss5016621243 NC_000016.10:56965415:C:T NC_000016.10:56965415:C:T (self)
ss15723184, ss24432801, ss74848920, ss96685298, ss143335631, ss244272561 NT_010498.15:10613526:C:T NC_000016.10:56965415: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.

6 citations for rs11508026
PMID Title Author Year Journal
19924713 Use of longitudinal data in genetic studies in the genome-wide association studies era: summary of Group 14. Kerner B et al. 2009 Genetic epidemiology
20017981 Longitudinal trends in the association of metabolic syndrome with 550 k single-nucleotide polymorphisms in the Framingham Heart Study. Park YM et al. 2009 BMC proceedings
20018034 Multivariate association analysis of the components of metabolic syndrome from the Framingham Heart Study. Baker AR et al. 2009 BMC proceedings
20018043 Defining genetic determinants of the Metabolic Syndrome in the Framingham Heart Study using association and structural equation modeling methods. Nock NL et al. 2009 BMC proceedings
20018089 Toward the identification of causal genes in complex diseases: a gene-centric joint test of significance combining genomic and transcriptomic data. Charlesworth JC et al. 2009 BMC proceedings
27286809 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. Ligthart S et al. 2016 BMC genomics
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