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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.

rs184362669

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:2380208 (GRCh38.p14) 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=0.001058 (280/264690, TOPMED)
T=0.000786 (110/139880, GnomAD)
T=0.00083 (12/14420, ALFA) (+ 4 more)
T=0.0014 (9/6404, 1000G_30x)
T=0.0010 (5/5008, 1000G)
T=0.0005 (2/3854, ALSPAC)
T=0.0011 (4/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EIF3B : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14420 C=0.99917 T=0.00083
European Sub 9824 C=0.9992 T=0.0008
African Sub 2946 C=0.9997 T=0.0003
African Others Sub 114 C=1.000 T=0.000
African American Sub 2832 C=0.9996 T=0.0004
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=0.993 T=0.007
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 684 C=0.997 T=0.003


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=0.998942 T=0.001058
gnomAD - Genomes Global Study-wide 139880 C=0.999214 T=0.000786
gnomAD - Genomes European Sub 75778 C=0.99963 T=0.00037
gnomAD - Genomes African Sub 41878 C=0.99964 T=0.00036
gnomAD - Genomes American Sub 13634 C=0.99670 T=0.00330
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9952 T=0.0048
gnomAD - Genomes East Asian Sub 3126 C=0.9997 T=0.0003
gnomAD - Genomes Other Sub 2144 C=0.9977 T=0.0023
Allele Frequency Aggregator Total Global 14420 C=0.99917 T=0.00083
Allele Frequency Aggregator European Sub 9824 C=0.9992 T=0.0008
Allele Frequency Aggregator African Sub 2946 C=0.9997 T=0.0003
Allele Frequency Aggregator Other Sub 684 C=0.997 T=0.003
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.993 T=0.007
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9986 T=0.0014
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9984 T=0.0016
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.993 T=0.007
1000Genomes Global Study-wide 5008 C=0.9990 T=0.0010
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9980 T=0.0020
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.996 T=0.004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9995 T=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9989 T=0.0011
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.p14 chr 7 NC_000007.14:g.2380208C>T
GRCh37.p13 chr 7 NC_000007.13:g.2419843C>T
Gene: EIF3B, eukaryotic translation initiation factor 3 subunit B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EIF3B transcript variant 3 NM_001362791.2:c.*15-76C>T N/A Intron Variant
EIF3B transcript variant 5 NM_001362793.2:c.*15-71C>T N/A Intron Variant
EIF3B transcript variant 1 NM_003751.4:c.*15-71C>T N/A Intron Variant
EIF3B transcript variant 2 NM_001037283.2:c.*19= N/A 3 Prime UTR Variant
EIF3B transcript variant 4 NM_001362792.2:c.*19= N/A 3 Prime UTR Variant
EIF3B transcript variant X1 XM_011515599.2:c.*42= N/A 3 Prime UTR Variant
EIF3B transcript variant X2 XM_047421000.1:c.*42= N/A 3 Prime UTR Variant
EIF3B transcript variant X3 XM_047421001.1:c.*42= N/A 3 Prime UTR Variant
EIF3B transcript variant X4 XM_017012753.2:c. N/A Genic Downstream 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.p14 chr 7 NC_000007.14:g.2380208= NC_000007.14:g.2380208C>T
GRCh37.p13 chr 7 NC_000007.13:g.2419843= NC_000007.13:g.2419843C>T
EIF3B transcript variant X1 XM_011515599.2:c.*42= XM_011515599.2:c.*42C>T
EIF3B transcript variant X1 XM_011515599.1:c.*42= XM_011515599.1:c.*42C>T
EIF3B transcript variant 2 NM_001037283.2:c.*19= NM_001037283.2:c.*19C>T
EIF3B transcript variant 2 NM_001037283.1:c.*19= NM_001037283.1:c.*19C>T
EIF3B transcript variant 4 NM_001362792.2:c.*19= NM_001362792.2:c.*19C>T
EIF3B transcript variant 4 NM_001362792.1:c.*19= NM_001362792.1:c.*19C>T
EIF3B transcript variant X2 XM_047421000.1:c.*42= XM_047421000.1:c.*42C>T
EIF3B transcript variant X3 XM_047421001.1:c.*42= XM_047421001.1:c.*42C>T
EIF3B transcript variant 3 NM_001362791.2:c.*15-76= NM_001362791.2:c.*15-76C>T
EIF3B transcript variant 5 NM_001362793.2:c.*15-71= NM_001362793.2:c.*15-71C>T
EIF3B transcript variant 1 NM_003751.3:c.*15-71= NM_003751.3:c.*15-71C>T
EIF3B transcript variant 1 NM_003751.4:c.*15-71= NM_003751.4:c.*15-71C>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#.

16 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss459392694 Sep 17, 2011 (135)
2 TISHKOFF ss559744129 Apr 25, 2013 (138)
3 1000GENOMES ss1323562864 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1617385626 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1660379659 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2291042387 Dec 20, 2016 (150)
7 GNOMAD ss2848742927 Nov 08, 2017 (151)
8 EVA_DECODE ss3718922186 Jul 13, 2019 (153)
9 EVA ss3986370352 Apr 26, 2021 (155)
10 TOPMED ss4732581022 Apr 26, 2021 (155)
11 1000G_HIGH_COVERAGE ss5271499802 Oct 13, 2022 (156)
12 EVA ss5371080082 Oct 13, 2022 (156)
13 HUGCELL_USP ss5468825559 Oct 13, 2022 (156)
14 1000G_HIGH_COVERAGE ss5558985890 Oct 13, 2022 (156)
15 EVA ss5857345489 Oct 13, 2022 (156)
16 EVA ss5971343370 Oct 13, 2022 (156)
17 1000Genomes NC_000007.13 - 2419843 Oct 12, 2018 (152)
18 1000Genomes_30x NC_000007.14 - 2380208 Oct 13, 2022 (156)
19 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 2419843 Oct 12, 2018 (152)
20 gnomAD - Genomes NC_000007.14 - 2380208 Apr 26, 2021 (155)
21 TopMed NC_000007.14 - 2380208 Apr 26, 2021 (155)
22 UK 10K study - Twins NC_000007.13 - 2419843 Oct 12, 2018 (152)
23 ALFA NC_000007.14 - 2380208 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
35479496, 19784604, 19784604, ss459392694, ss559744129, ss1323562864, ss1617385626, ss1660379659, ss2848742927, ss3986370352, ss5371080082, ss5971343370 NC_000007.13:2419842:C:T NC_000007.14:2380207:C:T (self)
46511825, 250315605, 569958581, 3725374281, ss2291042387, ss3718922186, ss4732581022, ss5271499802, ss5468825559, ss5558985890, ss5857345489 NC_000007.14:2380207:C:T NC_000007.14:2380207: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 rs184362669

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.post761+d5e8e07