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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.

rs221914

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr14:71126006 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.408043 (108005/264690, TOPMED)
C=0.434162 (60741/139904, GnomAD)
C=0.48899 (9237/18890, ALFA) (+ 13 more)
C=0.27810 (4661/16760, 8.3KJPN)
C=0.3642 (1824/5008, 1000G)
T=0.4107 (1840/4480, Estonian)
T=0.4458 (1718/3854, ALSPAC)
T=0.4312 (1599/3708, TWINSUK)
C=0.2775 (813/2930, KOREAN)
T=0.473 (472/998, GoNL)
T=0.433 (260/600, NorthernSweden)
T=0.377 (125/332, SGDP_PRJ)
C=0.440 (95/216, Qatari)
C=0.47 (19/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 14 NC_000014.9:g.71126006T>C
GRCh37.p13 chr 14 NC_000014.8:g.71592723T>C
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 18890 T=0.51101 C=0.48899
European Sub 14286 T=0.44694 C=0.55306
African Sub 2946 T=0.7539 C=0.2461
African Others Sub 114 T=0.851 C=0.149
African American Sub 2832 T=0.7500 C=0.2500
Asian Sub 112 T=0.705 C=0.295
East Asian Sub 86 T=0.72 C=0.28
Other Asian Sub 26 T=0.65 C=0.35
Latin American 1 Sub 146 T=0.514 C=0.486
Latin American 2 Sub 610 T=0.718 C=0.282
South Asian Sub 98 T=0.42 C=0.58
Other Sub 692 T=0.598 C=0.402


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 T=0.591957 C=0.408043
gnomAD - Genomes Global Study-wide 139904 T=0.565838 C=0.434162
gnomAD - Genomes European Sub 75776 T=0.44654 C=0.55346
gnomAD - Genomes African Sub 41900 T=0.74487 C=0.25513
gnomAD - Genomes American Sub 13638 T=0.64460 C=0.35540
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.5319 C=0.4681
gnomAD - Genomes East Asian Sub 3126 T=0.7412 C=0.2588
gnomAD - Genomes Other Sub 2144 T=0.5793 C=0.4207
Allele Frequency Aggregator Total Global 18890 T=0.51101 C=0.48899
Allele Frequency Aggregator European Sub 14286 T=0.44694 C=0.55306
Allele Frequency Aggregator African Sub 2946 T=0.7539 C=0.2461
Allele Frequency Aggregator Other Sub 692 T=0.598 C=0.402
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.718 C=0.282
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.514 C=0.486
Allele Frequency Aggregator Asian Sub 112 T=0.705 C=0.295
Allele Frequency Aggregator South Asian Sub 98 T=0.42 C=0.58
8.3KJPN JAPANESE Study-wide 16760 T=0.72190 C=0.27810
1000Genomes Global Study-wide 5008 T=0.6358 C=0.3642
1000Genomes African Sub 1322 T=0.8139 C=0.1861
1000Genomes East Asian Sub 1008 T=0.7440 C=0.2560
1000Genomes Europe Sub 1006 T=0.4612 C=0.5388
1000Genomes South Asian Sub 978 T=0.428 C=0.572
1000Genomes American Sub 694 T=0.684 C=0.316
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4107 C=0.5893
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4458 C=0.5542
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4312 C=0.5688
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7225 C=0.2775
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.473 C=0.527
Northern Sweden ACPOP Study-wide 600 T=0.433 C=0.567
SGDP_PRJ Global Study-wide 332 T=0.377 C=0.623
Qatari Global Study-wide 216 T=0.560 C=0.440
The Danish reference pan genome Danish Study-wide 40 T=0.53 C=0.47
Siberian Global Study-wide 4 T=0.5 C=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 T= C
GRCh38.p13 chr 14 NC_000014.9:g.71126006= NC_000014.9:g.71126006T>C
GRCh37.p13 chr 14 NC_000014.8:g.71592723= NC_000014.8:g.71592723T>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#.

39 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss288339 Jul 12, 2000 (79)
2 CSHL-HAPMAP ss17521533 Feb 28, 2004 (126)
3 SSAHASNP ss21167050 Apr 05, 2004 (126)
4 GMI ss282055175 May 04, 2012 (137)
5 GMI ss286865160 Apr 25, 2013 (138)
6 1000GENOMES ss338434063 May 09, 2011 (134)
7 SSMP ss659863054 Apr 25, 2013 (138)
8 EVA-GONL ss991289171 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1079761830 Aug 21, 2014 (142)
10 1000GENOMES ss1351542541 Aug 21, 2014 (142)
11 DDI ss1427463819 Apr 01, 2015 (144)
12 EVA_GENOME_DK ss1577337949 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1632026292 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1675020325 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1934660858 Feb 12, 2016 (147)
16 JJLAB ss2028111729 Sep 14, 2016 (149)
17 USC_VALOUEV ss2156487448 Dec 20, 2016 (150)
18 HUMAN_LONGEVITY ss2203099517 Dec 20, 2016 (150)
19 TOPMED ss2367479450 Dec 20, 2016 (150)
20 SYSTEMSBIOZJU ss2628544675 Nov 08, 2017 (151)
21 GRF ss2700918625 Nov 08, 2017 (151)
22 GNOMAD ss2929231244 Nov 08, 2017 (151)
23 SWEGEN ss3012421048 Nov 08, 2017 (151)
24 TOPMED ss3214714652 Nov 08, 2017 (151)
25 CSHL ss3350869735 Nov 08, 2017 (151)
26 EGCUT_WGS ss3679677512 Jul 13, 2019 (153)
27 ACPOP ss3740501115 Jul 13, 2019 (153)
28 EVA ss3752488316 Jul 13, 2019 (153)
29 PACBIO ss3787702810 Jul 13, 2019 (153)
30 PACBIO ss3792735096 Jul 13, 2019 (153)
31 PACBIO ss3797619430 Jul 13, 2019 (153)
32 KHV_HUMAN_GENOMES ss3817817453 Jul 13, 2019 (153)
33 EVA ss3833988563 Apr 27, 2020 (154)
34 EVA ss3840585545 Apr 27, 2020 (154)
35 EVA ss3846075035 Apr 27, 2020 (154)
36 SGDP_PRJ ss3881789920 Apr 27, 2020 (154)
37 KRGDB ss3930834642 Apr 27, 2020 (154)
38 TOPMED ss4975334358 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5213840760 Apr 27, 2021 (155)
40 1000Genomes NC_000014.8 - 71592723 Oct 12, 2018 (152)
41 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 71592723 Oct 12, 2018 (152)
42 Genetic variation in the Estonian population NC_000014.8 - 71592723 Oct 12, 2018 (152)
43 The Danish reference pan genome NC_000014.8 - 71592723 Apr 27, 2020 (154)
44 gnomAD - Genomes NC_000014.9 - 71126006 Apr 27, 2021 (155)
45 Genome of the Netherlands Release 5 NC_000014.8 - 71592723 Apr 27, 2020 (154)
46 KOREAN population from KRGDB NC_000014.8 - 71592723 Apr 27, 2020 (154)
47 Northern Sweden NC_000014.8 - 71592723 Jul 13, 2019 (153)
48 Qatari NC_000014.8 - 71592723 Apr 27, 2020 (154)
49 SGDP_PRJ NC_000014.8 - 71592723 Apr 27, 2020 (154)
50 Siberian NC_000014.8 - 71592723 Apr 27, 2020 (154)
51 8.3KJPN NC_000014.8 - 71592723 Apr 27, 2021 (155)
52 TopMed NC_000014.9 - 71126006 Apr 27, 2021 (155)
53 UK 10K study - Twins NC_000014.8 - 71592723 Oct 12, 2018 (152)
54 ALFA NC_000014.9 - 71126006 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)
rs11848967 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss282055175, ss286865160 NC_000014.7:70662475:T:C NC_000014.9:71126005:T:C (self)
64543784, 35864221, 25415760, 3659689, 16016449, 38012036, 13785980, 16702788, 33806900, 9003802, 71810067, 35864221, ss338434063, ss659863054, ss991289171, ss1079761830, ss1351542541, ss1427463819, ss1577337949, ss1632026292, ss1675020325, ss1934660858, ss2028111729, ss2156487448, ss2367479450, ss2628544675, ss2700918625, ss2929231244, ss3012421048, ss3350869735, ss3679677512, ss3740501115, ss3752488316, ss3787702810, ss3792735096, ss3797619430, ss3833988563, ss3840585545, ss3881789920, ss3930834642, ss5213840760 NC_000014.8:71592722:T:C NC_000014.9:71126005:T:C (self)
455086571, 119446825, 190880017, 1575130760, ss2203099517, ss3214714652, ss3817817453, ss3846075035, ss4975334358 NC_000014.9:71126005:T:C NC_000014.9:71126005:T:C (self)
ss17521533, ss21167050 NT_026437.10:51512763:T:C NC_000014.9:71126005:T:C (self)
ss288339 NT_026437.12:52592722:T:C NC_000014.9:71126005:T:C (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 rs221914

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