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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 Aliases 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.

rs144982700

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr14:49586545 (GRCh38.p12) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00395 (496/125568, TOPMED)
G=0.0036 (114/31408, GnomAD)
G=0.003 (17/5008, 1000G) (+ 2 more)
G=0.001 (2/3854, ALSPAC)
G=0.000 (1/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RPS29 : Intron Variant
RN7SL1 : 2KB Upstream Variant
LOC107987206 : 2KB Upstream 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.p12 chr 14 NC_000014.9:g.49586545C>G
GRCh37.p13 chr 14 NC_000014.8:g.50053263C>G
RPS29 RefSeqGene NG_050638.2:g.17166G>C
Gene: RPS29, ribosomal protein S29 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RPS29 transcript variant 3 NM_001351375.1:c. N/A Intron Variant
RPS29 transcript variant 2 NM_001030001.4:c. N/A Genic Upstream Transcript Variant
RPS29 transcript variant 1 NM_001032.4:c. N/A Genic Upstream Transcript Variant
Gene: RN7SL1, RNA component of signal recognition particle 7SL1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
RN7SL1 transcript NR_002715.1:n. N/A Upstream Transcript Variant
Gene: LOC107987206, uncharacterized LOC107987206 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC107987206 transcript XR_001750762.1:n. N/A 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
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 125568 C=0.99605 G=0.00395
gnomAD - Genomes Global Study-wide 31408 C=0.9964 G=0.0036
gnomAD - Genomes European Sub 18906 C=0.9997 G=0.0003
gnomAD - Genomes African Sub 8716 C=0.989 G=0.011
gnomAD - Genomes East Asian Sub 1560 C=1.000 G=0.000
gnomAD - Genomes Other Sub 1088 C=0.996 G=0.004
gnomAD - Genomes American Sub 848 C=1.00 G=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.99 G=0.01
1000Genomes Global Study-wide 5008 C=0.997 G=0.003
1000Genomes African Sub 1322 C=0.989 G=0.011
1000Genomes East Asian Sub 1008 C=1.000 G=0.000
1000Genomes Europe Sub 1006 C=0.999 G=0.001
1000Genomes South Asian Sub 978 C=1.00 G=0.00
1000Genomes American Sub 694 C=1.00 G=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.999 G=0.001
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.000 G=0.000
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= G Note
GRCh38.p12 chr 14 NC_000014.9:g.49586545= NC_000014.9:g.49586545C>G
GRCh37.p13 chr 14 NC_000014.8:g.50053263= NC_000014.8:g.50053263C>G
RPS29 RefSeqGene NG_050638.2:g.17166= NG_050638.2:g.17166G>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#.

10 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss338332240 May 09, 2011 (134)
2 TISHKOFF ss564081926 Apr 25, 2013 (138)
3 1000GENOMES ss1350941221 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1631699928 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1674693961 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2201851464 Dec 20, 2016 (150)
7 TOPMED ss2366195671 Dec 20, 2016 (150)
8 GNOMAD ss2927519980 Nov 08, 2017 (151)
9 TOPMED ss3210786779 Nov 08, 2017 (151)
10 EVA_DECODE ss3696645994 Jul 13, 2019 (153)
11 1000Genomes NC_000014.8 - 50053263 Oct 12, 2018 (152)
12 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 50053263 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000014.8 - 50053263 Jul 13, 2019 (153)
14 TopMed NC_000014.9 - 49586545 Oct 12, 2018 (152)
15 UK 10K study - Twins NC_000014.8 - 50053263 Oct 12, 2018 (152)
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
63919247, 35504436, 174477917, 35504436, ss338332240, ss564081926, ss1350941221, ss1631699928, ss1674693961, ss2366195671, ss2927519980 NC_000014.8:50053262:C:G NC_000014.9:49586544:C:G (self)
116168455, ss2201851464, ss3210786779, ss3696645994 NC_000014.9:49586544:C:G NC_000014.9:49586544: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 rs144982700

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.post308+0fe9b3b