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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.

rs183605470

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:84139 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.010750 (1234/114792, GnomAD)
T=0.00597 (73/12232, ALFA)
T=0.0160 (80/5008, 1000G) (+ 1 more)
A=0.33 (4/12, SGDP_PRJ)
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 1 NC_000001.11:g.84139A>T
GRCh37.p13 chr 1 NC_000001.10:g.84139A>T
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 12232 A=0.99403 T=0.00597
European Sub 7752 A=0.9999 T=0.0001
African Sub 2864 A=0.9990 T=0.0010
African Others Sub 108 A=1.000 T=0.000
African American Sub 2756 A=0.9989 T=0.0011
Asian Sub 108 A=1.000 T=0.000
East Asian Sub 84 A=1.00 T=0.00
Other Asian Sub 24 A=1.00 T=0.00
Latin American 1 Sub 146 A=0.959 T=0.041
Latin American 2 Sub 610 A=0.903 T=0.097
South Asian Sub 94 A=1.00 T=0.00
Other Sub 658 A=0.994 T=0.006


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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 114792 A=0.989250 T=0.010750
gnomAD - Genomes European Sub 56316 A=0.99993 T=0.00007
gnomAD - Genomes African Sub 39724 A=0.99917 T=0.00083
gnomAD - Genomes American Sub 11410 A=0.89833 T=0.10167
gnomAD - Genomes East Asian Sub 3116 A=1.0000 T=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 2444 A=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1782 A=0.9792 T=0.0208
Allele Frequency Aggregator Total Global 12232 A=0.99403 T=0.00597
Allele Frequency Aggregator European Sub 7752 A=0.9999 T=0.0001
Allele Frequency Aggregator African Sub 2864 A=0.9990 T=0.0010
Allele Frequency Aggregator Other Sub 658 A=0.994 T=0.006
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.903 T=0.097
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.959 T=0.041
Allele Frequency Aggregator Asian Sub 108 A=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 T=0.00
1000Genomes Global Study-wide 5008 A=0.9840 T=0.0160
1000Genomes African Sub 1322 A=0.9992 T=0.0008
1000Genomes East Asian Sub 1008 A=0.9921 T=0.0079
1000Genomes Europe Sub 1006 A=1.0000 T=0.0000
1000Genomes South Asian Sub 978 A=0.997 T=0.003
1000Genomes American Sub 694 A=0.902 T=0.098
SGDP_PRJ Global Study-wide 12 A=0.33 T=0.67
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= T
GRCh38.p13 chr 1 NC_000001.11:g.84139= NC_000001.11:g.84139A>T
GRCh37.p13 chr 1 NC_000001.10:g.84139= NC_000001.10:g.84139A>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#.

12 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss453832821 Sep 17, 2011 (135)
2 1000GENOMES ss1289336023 Aug 21, 2014 (142)
3 EVA_DECODE ss1584129270 Apr 01, 2015 (144)
4 ILLUMINA ss1958229896 Feb 12, 2016 (147)
5 GNOMAD ss2750606512 Nov 08, 2017 (151)
6 ILLUMINA ss3021042936 Nov 08, 2017 (151)
7 TOPMED ss3066327115 Nov 08, 2017 (151)
8 ILLUMINA ss3651364994 Oct 11, 2018 (152)
9 EVA_DECODE ss3685990687 Jul 12, 2019 (153)
10 EVA ss3745720567 Jul 12, 2019 (153)
11 KHV_HUMAN_GENOMES ss3798742549 Jul 12, 2019 (153)
12 SGDP_PRJ ss3847984842 Apr 25, 2020 (154)
13 1000Genomes NC_000001.10 - 84139 Oct 11, 2018 (152)
14 gnomAD - Genomes NC_000001.11 - 84139 Apr 25, 2021 (155)
15 SGDP_PRJ NC_000001.10 - 84139 Apr 25, 2020 (154)
16 ALFA NC_000001.11 - 84139 Apr 25, 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
ss1584129270 NC_000001.9:74001:A:T NC_000001.11:84138:A:T (self)
613, 1822, ss453832821, ss1289336023, ss1958229896, ss2750606512, ss3021042936, ss3651364994, ss3745720567, ss3847984842 NC_000001.10:84138:A:T NC_000001.11:84138:A:T (self)
9330, 1317469286, ss3066327115, ss3685990687, ss3798742549 NC_000001.11:84138:A:T NC_000001.11:84138:A: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 rs183605470

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