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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.

rs11629047

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr14:49585101 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.44863 (56333/125568, TOPMED)
C=0.4734 (14765/31192, GnomAD)
C=0.377 (1887/5008, 1000G) (+ 5 more)
G=0.465 (2081/4478, Estonian)
G=0.449 (1732/3854, ALSPAC)
G=0.442 (1640/3708, TWINSUK)
G=0.40 (242/600, NorthernSweden)
C=0.14 (31/214, Vietnamese)
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.49585101G>A
GRCh38.p12 chr 14 NC_000014.9:g.49585101G>C
GRCh37.p13 chr 14 NC_000014.8:g.50051819G>A
GRCh37.p13 chr 14 NC_000014.8:g.50051819G>C
RPS29 RefSeqGene NG_050638.2:g.18610C>T
RPS29 RefSeqGene NG_050638.2:g.18610C>G
Gene: RPS29, ribosomal protein S29 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RPS29 transcript variant 2 NM_001030001.4:c. N/A Intron Variant
RPS29 transcript variant 1 NM_001032.4:c. N/A Intron Variant
RPS29 transcript variant 3 NM_001351375.1:c. N/A Intron 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 G=0.55137 C=0.44863
gnomAD - Genomes Global Study-wide 31192 G=0.5266 C=0.4734
gnomAD - Genomes European Sub 18762 G=0.4491 C=0.5509
gnomAD - Genomes African Sub 8668 G=0.626 C=0.374
gnomAD - Genomes East Asian Sub 1554 G=0.888 C=0.112
gnomAD - Genomes Other Sub 1072 G=0.467 C=0.533
gnomAD - Genomes American Sub 848 G=0.68 C=0.32
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.42 C=0.58
1000Genomes Global Study-wide 5008 G=0.623 C=0.377
1000Genomes African Sub 1322 G=0.635 C=0.365
1000Genomes East Asian Sub 1008 G=0.853 C=0.147
1000Genomes Europe Sub 1006 G=0.464 C=0.536
1000Genomes South Asian Sub 978 G=0.52 C=0.48
1000Genomes American Sub 694 G=0.64 C=0.36
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.465 C=0.535
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.449 C=0.551
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.442 C=0.558
Northern Sweden ACPOP Study-wide 600 G=0.40 C=0.60
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.86 C=0.14
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 G= A C Note
GRCh38.p12 chr 14 NC_000014.9:g.495...

NC_000014.9:g.49585101=

NC_000014.9:g.495...

NC_000014.9:g.49585101G>A

NC_000014.9:g.495...

NC_000014.9:g.49585101G>C

GRCh37.p13 chr 14 NC_000014.8:g.500...

NC_000014.8:g.50051819=

NC_000014.8:g.500...

NC_000014.8:g.50051819G>A

NC_000014.8:g.500...

NC_000014.8:g.50051819G>C

RPS29 RefSeqGene NG_050638.2:g.18610= NG_050638.2:g.186...

NG_050638.2:g.18610C>T

NG_050638.2:g.186...

NG_050638.2:g.18610C>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#.

39 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16661281 Feb 28, 2004 (120)
2 HGSV ss77713931 Dec 08, 2007 (129)
3 COMPLETE_GENOMICS ss168014073 Jul 04, 2010 (132)
4 BUSHMAN ss200052177 Jul 04, 2010 (132)
5 BL ss254969571 May 09, 2011 (134)
6 GMI ss286838463 Apr 25, 2013 (138)
7 1000GENOMES ss338332235 May 09, 2011 (134)
8 SSMP ss659758813 Apr 25, 2013 (138)
9 EVA-GONL ss991129445 Aug 21, 2014 (142)
10 JMKIDD_LAB ss1079641661 Aug 21, 2014 (142)
11 1000GENOMES ss1350941164 Aug 21, 2014 (142)
12 DDI ss1427418142 Apr 01, 2015 (144)
13 EVA_GENOME_DK ss1577245137 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1631699909 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1674693942 Apr 01, 2015 (144)
16 EVA_DECODE ss1695126622 Apr 01, 2015 (144)
17 HAMMER_LAB ss1807917406 Sep 08, 2015 (146)
18 WEILL_CORNELL_DGM ss1934505762 Feb 12, 2016 (147)
19 GENOMED ss1967958608 Jul 19, 2016 (147)
20 JJLAB ss2028029464 Sep 14, 2016 (149)
21 USC_VALOUEV ss2156402939 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2201851348 Dec 20, 2016 (150)
23 TOPMED ss2366195553 Dec 20, 2016 (150)
24 SYSTEMSBIOZJU ss2628503981 Nov 08, 2017 (151)
25 GRF ss2700825936 Nov 08, 2017 (151)
26 GNOMAD ss2927519827 Nov 08, 2017 (151)
27 SWEGEN ss3012175883 Nov 08, 2017 (151)
28 BIOINF_KMB_FNS_UNIBA ss3027839130 Nov 08, 2017 (151)
29 TOPMED ss3210786384 Nov 08, 2017 (151)
30 TOPMED ss3210786385 Nov 08, 2017 (151)
31 CSHL ss3350798668 Nov 08, 2017 (151)
32 EGCUT_WGS ss3679423438 Jul 13, 2019 (153)
33 EVA_DECODE ss3696645957 Jul 13, 2019 (153)
34 ACPOP ss3740367592 Jul 13, 2019 (153)
35 EVA ss3752301421 Jul 13, 2019 (153)
36 PACBIO ss3787659878 Jul 13, 2019 (153)
37 PACBIO ss3792699591 Jul 13, 2019 (153)
38 PACBIO ss3797583743 Jul 13, 2019 (153)
39 KHV_HUMAN_GENOMES ss3817636343 Jul 13, 2019 (153)
40 1000Genomes NC_000014.8 - 50051819 Oct 12, 2018 (152)
41 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 50051819 Oct 12, 2018 (152)
42 Genetic variation in the Estonian population NC_000014.8 - 50051819 Oct 12, 2018 (152)
43 gnomAD - Genomes NC_000014.8 - 50051819 Jul 13, 2019 (153)
44 Northern Sweden NC_000014.8 - 50051819 Jul 13, 2019 (153)
45 TopMed NC_000014.9 - 49585101 Oct 12, 2018 (152)
46 UK 10K study - Twins NC_000014.8 - 50051819 Oct 12, 2018 (152)
47 A Vietnamese Genetic Variation Database NC_000014.8 - 50051819 Jul 13, 2019 (153)
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
ss3210786384 NC_000014.9:49585100:G:A NC_000014.9:49585100:G:A (self)
ss77713931, ss168014073, ss200052177, ss254969571, ss286838463, ss1695126622 NC_000014.7:49121568:G:C NC_000014.9:49585100:G:C (self)
63919189, 35504417, 25161686, 174477754, 13652457, 35504417, 7899194, ss338332235, ss659758813, ss991129445, ss1079641661, ss1350941164, ss1427418142, ss1577245137, ss1631699909, ss1674693942, ss1807917406, ss1934505762, ss1967958608, ss2028029464, ss2156402939, ss2366195553, ss2628503981, ss2700825936, ss2927519827, ss3012175883, ss3350798668, ss3679423438, ss3740367592, ss3752301421, ss3787659878, ss3792699591, ss3797583743 NC_000014.8:50051818:G:C NC_000014.9:49585100:G:C (self)
116168139, ss2201851348, ss3027839130, ss3210786385, ss3696645957, ss3817636343 NC_000014.9:49585100:G:C NC_000014.9:49585100:G:C (self)
ss16661281 NT_026437.10:29971856:G:C NC_000014.9:49585100:G: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 rs11629047

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