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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.

rs11076175

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:56972466 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.201594 (53360/264690, TOPMED)
G=0.199586 (27976/140170, GnomAD)
G=0.20547 (16170/78698, PAGE_STUDY) (+ 16 more)
G=0.19680 (6028/30630, ALFA)
G=0.07619 (1277/16760, 8.3KJPN)
G=0.1997 (1000/5008, 1000G)
G=0.1850 (829/4480, Estonian)
G=0.1687 (650/3854, ALSPAC)
G=0.1656 (614/3708, TWINSUK)
G=0.0836 (245/2930, KOREAN)
G=0.0884 (162/1832, Korea1K)
G=0.186 (186/998, GoNL)
G=0.155 (93/600, NorthernSweden)
G=0.173 (57/330, HapMap)
G=0.162 (35/216, Qatari)
G=0.134 (29/216, Vietnamese)
A=0.437 (69/158, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
A=0.44 (8/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CETP : Intron Variant
Publications
2 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.56972466A>G
GRCh37.p13 chr 16 NC_000016.9:g.57006378A>G
CETP RefSeqGene NG_008952.1:g.15544A>G
Gene: CETP, cholesteryl ester transfer protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CETP transcript variant 1 NM_000078.3:c.750+383A>G N/A Intron Variant
CETP transcript variant 2 NM_001286085.2:c.750+383A…

NM_001286085.2:c.750+383A>G

N/A Intron Variant
CETP transcript variant X1 XM_006721124.3:c.*247= N/A 3 Prime UTR 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 30630 A=0.80320 G=0.19680
European Sub 15876 A=0.81809 G=0.18191
African Sub 6314 A=0.7605 G=0.2395
African Others Sub 198 A=0.737 G=0.263
African American Sub 6116 A=0.7613 G=0.2387
Asian Sub 168 A=0.857 G=0.143
East Asian Sub 138 A=0.884 G=0.116
Other Asian Sub 30 A=0.73 G=0.27
Latin American 1 Sub 222 A=0.806 G=0.194
Latin American 2 Sub 4712 A=0.8003 G=0.1997
South Asian Sub 120 A=0.808 G=0.192
Other Sub 3218 A=0.8145 G=0.1855


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 A=0.798406 G=0.201594
gnomAD - Genomes Global Study-wide 140170 A=0.800414 G=0.199586
gnomAD - Genomes European Sub 75910 A=0.82408 G=0.17592
gnomAD - Genomes African Sub 42004 A=0.75264 G=0.24736
gnomAD - Genomes American Sub 13658 A=0.78635 G=0.21365
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8489 G=0.1511
gnomAD - Genomes East Asian Sub 3128 A=0.8855 G=0.1145
gnomAD - Genomes Other Sub 2148 A=0.7886 G=0.2114
The PAGE Study Global Study-wide 78698 A=0.79453 G=0.20547
The PAGE Study AfricanAmerican Sub 32512 A=0.75803 G=0.24197
The PAGE Study Mexican Sub 10810 A=0.78640 G=0.21360
The PAGE Study Asian Sub 8318 A=0.9191 G=0.0809
The PAGE Study PuertoRican Sub 7918 A=0.7653 G=0.2347
The PAGE Study NativeHawaiian Sub 4534 A=0.8893 G=0.1107
The PAGE Study Cuban Sub 4230 A=0.8109 G=0.1891
The PAGE Study Dominican Sub 3828 A=0.7949 G=0.2051
The PAGE Study CentralAmerican Sub 2450 A=0.7673 G=0.2327
The PAGE Study SouthAmerican Sub 1982 A=0.8012 G=0.1988
The PAGE Study NativeAmerican Sub 1260 A=0.8024 G=0.1976
The PAGE Study SouthAsian Sub 856 A=0.810 G=0.190
8.3KJPN JAPANESE Study-wide 16760 A=0.92381 G=0.07619
1000Genomes Global Study-wide 5008 A=0.8003 G=0.1997
1000Genomes African Sub 1322 A=0.7390 G=0.2610
1000Genomes East Asian Sub 1008 A=0.8849 G=0.1151
1000Genomes Europe Sub 1006 A=0.7942 G=0.2058
1000Genomes South Asian Sub 978 A=0.802 G=0.198
1000Genomes American Sub 694 A=0.801 G=0.199
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8150 G=0.1850
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8313 G=0.1687
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8344 G=0.1656
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9164 G=0.0836
Korean Genome Project KOREAN Study-wide 1832 A=0.9116 G=0.0884
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.814 G=0.186
Northern Sweden ACPOP Study-wide 600 A=0.845 G=0.155
HapMap Global Study-wide 330 A=0.827 G=0.173
HapMap African Sub 120 A=0.767 G=0.233
HapMap American Sub 120 A=0.825 G=0.175
HapMap Asian Sub 90 A=0.91 G=0.09
Qatari Global Study-wide 216 A=0.838 G=0.162
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.866 G=0.134
SGDP_PRJ Global Study-wide 158 A=0.437 G=0.563
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Siberian Global Study-wide 18 A=0.44 G=0.56
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
GRCh38.p13 chr 16 NC_000016.10:g.56972466= NC_000016.10:g.56972466A>G
GRCh37.p13 chr 16 NC_000016.9:g.57006378= NC_000016.9:g.57006378A>G
CETP RefSeqGene NG_008952.1:g.15544= NG_008952.1:g.15544A>G
CETP transcript variant X1 XM_006721124.3:c.*247= XM_006721124.3:c.*247A>G
CETP transcript variant 1 NM_000078.2:c.750+383= NM_000078.2:c.750+383A>G
CETP transcript variant 1 NM_000078.3:c.750+383= NM_000078.3:c.750+383A>G
CETP transcript variant 2 NM_001286085.2:c.750+383= NM_001286085.2:c.750+383A>G
CETP transcript variant X1 XM_005255776.1:c.750+383= XM_005255776.1:c.750+383A>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#.

54 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss15723185 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss17559816 Feb 27, 2004 (120)
3 AFFY ss74850966 Aug 16, 2007 (128)
4 BGI ss103297677 Dec 01, 2009 (131)
5 1000GENOMES ss115142284 Jan 25, 2009 (130)
6 ILLUMINA-UK ss118265953 Feb 14, 2009 (130)
7 ILLUMINA ss161056542 Dec 01, 2009 (131)
8 COMPLETE_GENOMICS ss169831492 Jul 04, 2010 (132)
9 BUSHMAN ss201741045 Jul 04, 2010 (132)
10 1000GENOMES ss227262067 Jul 14, 2010 (132)
11 1000GENOMES ss237039628 Jul 15, 2010 (132)
12 1000GENOMES ss243376591 Jul 15, 2010 (132)
13 ILLUMINA ss244271434 Jul 04, 2010 (132)
14 GMI ss282546456 May 04, 2012 (137)
15 ILLUMINA ss410818334 Sep 17, 2011 (135)
16 ILLUMINA ss479378426 Sep 08, 2015 (146)
17 TISHKOFF ss564922182 Apr 25, 2013 (138)
18 SSMP ss660696207 Apr 25, 2013 (138)
19 EVA-GONL ss992526154 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1080650771 Aug 21, 2014 (142)
21 1000GENOMES ss1356389852 Aug 21, 2014 (142)
22 DDI ss1427858498 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1577928692 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1634499552 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1677493585 Apr 01, 2015 (144)
26 EVA_DECODE ss1696560685 Apr 01, 2015 (144)
27 WEILL_CORNELL_DGM ss1935962383 Feb 12, 2016 (147)
28 ILLUMINA ss1959681941 Feb 12, 2016 (147)
29 GENOMED ss1968270424 Jul 19, 2016 (147)
30 JJLAB ss2028764661 Sep 14, 2016 (149)
31 USC_VALOUEV ss2157201196 Dec 20, 2016 (150)
32 HUMAN_LONGEVITY ss2212447043 Dec 20, 2016 (150)
33 GRF ss2701725874 Nov 08, 2017 (151)
34 GNOMAD ss2943415335 Nov 08, 2017 (151)
35 SWEGEN ss3014571242 Nov 08, 2017 (151)
36 ILLUMINA ss3021709825 Nov 08, 2017 (151)
37 BIOINF_KMB_FNS_UNIBA ss3028201019 Nov 08, 2017 (151)
38 TOPMED ss3247451011 Nov 08, 2017 (151)
39 CSHL ss3351468625 Nov 08, 2017 (151)
40 ILLUMINA ss3636335248 Oct 12, 2018 (152)
41 ILLUMINA ss3652118809 Oct 12, 2018 (152)
42 EGCUT_WGS ss3681546845 Jul 13, 2019 (153)
43 EVA_DECODE ss3699333882 Jul 13, 2019 (153)
44 ILLUMINA ss3725565197 Jul 13, 2019 (153)
45 ACPOP ss3741542291 Jul 13, 2019 (153)
46 EVA ss3753982581 Jul 13, 2019 (153)
47 PAGE_CC ss3771881906 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3819269307 Jul 13, 2019 (153)
49 EVA ss3834588309 Apr 27, 2020 (154)
50 SGDP_PRJ ss3884512707 Apr 27, 2020 (154)
51 KRGDB ss3934004789 Apr 27, 2020 (154)
52 KOGIC ss3977657649 Apr 27, 2020 (154)
53 TOPMED ss5016623102 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5219733478 Apr 27, 2021 (155)
55 1000Genomes NC_000016.9 - 57006378 Oct 12, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 57006378 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000016.9 - 57006378 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000016.9 - 57006378 Apr 27, 2020 (154)
59 gnomAD - Genomes NC_000016.10 - 56972466 Apr 27, 2021 (155)
60 Genome of the Netherlands Release 5 NC_000016.9 - 57006378 Apr 27, 2020 (154)
61 HapMap NC_000016.10 - 56972466 Apr 27, 2020 (154)
62 KOREAN population from KRGDB NC_000016.9 - 57006378 Apr 27, 2020 (154)
63 Korean Genome Project NC_000016.10 - 56972466 Apr 27, 2020 (154)
64 Northern Sweden NC_000016.9 - 57006378 Jul 13, 2019 (153)
65 The PAGE Study NC_000016.10 - 56972466 Jul 13, 2019 (153)
66 Qatari NC_000016.9 - 57006378 Apr 27, 2020 (154)
67 SGDP_PRJ NC_000016.9 - 57006378 Apr 27, 2020 (154)
68 Siberian NC_000016.9 - 57006378 Apr 27, 2020 (154)
69 8.3KJPN NC_000016.9 - 57006378 Apr 27, 2021 (155)
70 TopMed NC_000016.10 - 56972466 Apr 27, 2021 (155)
71 UK 10K study - Twins NC_000016.9 - 57006378 Oct 12, 2018 (152)
72 A Vietnamese Genetic Variation Database NC_000016.9 - 57006378 Jul 13, 2019 (153)
73 ALFA NC_000016.10 - 56972466 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)
rs52810278 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss115142284, ss118265953, ss161056542, ss169831492, ss201741045, ss244271434, ss282546456, ss410818334, ss1696560685 NC_000016.8:55563878:A:G NC_000016.10:56972465:A:G (self)
69556904, 38583012, 27285093, 4140608, 17205463, 41182183, 14827156, 18004305, 36529687, 9717550, 77702785, 38583012, 8560269, ss227262067, ss237039628, ss243376591, ss479378426, ss564922182, ss660696207, ss992526154, ss1080650771, ss1356389852, ss1427858498, ss1577928692, ss1634499552, ss1677493585, ss1935962383, ss1959681941, ss1968270424, ss2028764661, ss2157201196, ss2701725874, ss2943415335, ss3014571242, ss3021709825, ss3351468625, ss3636335248, ss3652118809, ss3681546845, ss3741542291, ss3753982581, ss3834588309, ss3884512707, ss3934004789, ss5219733478 NC_000016.9:57006377:A:G NC_000016.10:56972465:A:G (self)
490601303, 1389654, 34035650, 1103375, 144962607, 232168763, 11857274081, ss2212447043, ss3028201019, ss3247451011, ss3699333882, ss3725565197, ss3771881906, ss3819269307, ss3977657649, ss5016623102 NC_000016.10:56972465:A:G NC_000016.10:56972465:A:G (self)
ss17559816 NT_010498.14:5727090:A:G NC_000016.10:56972465:A:G (self)
ss15723185, ss74850966, ss103297677 NT_010498.15:10620576:A:G NC_000016.10:56972465: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.

2 citations for rs11076175
PMID Title Author Year Journal
22229114 Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids. Carlquist JF et al. 2011 Journal of clinical & experimental cardiology
23675527 The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population. Radovica I et al. 2013 PloS one
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