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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.

rs148120343

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:794707 (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=0.034206 (9054/264690, TOPMED)
C=0.040341 (5657/140230, GnomAD)
C=0.05495 (1038/18890, ALFA) (+ 7 more)
C=0.0128 (64/5008, 1000G)
C=0.0547 (211/3854, ALSPAC)
C=0.0529 (196/3708, TWINSUK)
C=0.072 (72/998, GoNL)
C=0.062 (37/600, NorthernSweden)
T=0.50 (7/14, SGDP_PRJ)
C=0.50 (7/14, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01409 : 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 T=0.94505 C=0.05495
European Sub 14286 T=0.93189 C=0.06811
African Sub 2946 T=0.9919 C=0.0081
African Others Sub 114 T=1.000 C=0.000
African American Sub 2832 T=0.9915 C=0.0085
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=0.979 C=0.021
Latin American 2 Sub 610 T=0.984 C=0.016
South Asian Sub 98 T=0.99 C=0.01
Other Sub 692 T=0.961 C=0.039


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=0.965794 C=0.034206
gnomAD - Genomes Global Study-wide 140230 T=0.959659 C=0.040341
gnomAD - Genomes European Sub 75916 T=0.93733 C=0.06267
gnomAD - Genomes African Sub 42052 T=0.99032 C=0.00968
gnomAD - Genomes American Sub 13656 T=0.97591 C=0.02409
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9744 C=0.0256
gnomAD - Genomes East Asian Sub 3134 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2150 T=0.9642 C=0.0358
1000Genomes Global Study-wide 5008 T=0.9872 C=0.0128
1000Genomes African Sub 1322 T=0.9985 C=0.0015
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9503 C=0.0497
1000Genomes South Asian Sub 978 T=0.995 C=0.005
1000Genomes American Sub 694 T=0.990 C=0.010
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9453 C=0.0547
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9471 C=0.0529
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.928 C=0.072
Northern Sweden ACPOP Study-wide 600 T=0.938 C=0.062
SGDP_PRJ Global Study-wide 14 T=0.50 C=0.50
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.794707T>C
GRCh37.p13 chr 1 NC_000001.10:g.730087T>C
Gene: LINC01409, uncharacterized LINC01409 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC01409 transcript variant X1 XR_002958522.1:n. N/A Intron Variant
LINC01409 transcript variant X5 XR_002958525.1:n. N/A Intron Variant
LINC01409 transcript variant X4 XR_946806.3:n. N/A Intron Variant
LINC01409 transcript variant X2 XR_002958523.1:n. N/A Genic Upstream Transcript Variant
LINC01409 transcript variant X3 XR_002958524.1:n. N/A Genic 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

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 1 NC_000001.11:g.794707= NC_000001.11:g.794707T>C
GRCh37.p13 chr 1 NC_000001.10:g.730087= NC_000001.10:g.730087T>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#.

20 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss328357228 May 09, 2011 (134)
2 EVA-GONL ss974769118 Aug 21, 2014 (142)
3 1000GENOMES ss1289338271 Aug 21, 2014 (142)
4 EVA_DECODE ss1584129374 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1599378250 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1642372283 Apr 01, 2015 (144)
7 JJLAB ss2019498290 Sep 14, 2016 (149)
8 TOPMED ss2321501624 Dec 20, 2016 (150)
9 GNOMAD ss2750634516 Nov 08, 2017 (151)
10 SWEGEN ss2986148128 Nov 08, 2017 (151)
11 TOPMED ss3066391549 Nov 08, 2017 (151)
12 CSHL ss3343272301 Nov 08, 2017 (151)
13 EVA_DECODE ss3685991773 Jul 12, 2019 (153)
14 ACPOP ss3726716055 Jul 12, 2019 (153)
15 KHV_HUMAN_GENOMES ss3798743222 Jul 12, 2019 (153)
16 EVA ss3825981400 Apr 25, 2020 (154)
17 EVA ss3836378331 Apr 25, 2020 (154)
18 EVA ss3841782331 Apr 25, 2020 (154)
19 SGDP_PRJ ss3847994210 Apr 25, 2020 (154)
20 TOPMED ss4436424686 Apr 25, 2021 (155)
21 1000Genomes NC_000001.10 - 730087 Oct 11, 2018 (152)
22 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 730087 Oct 11, 2018 (152)
23 gnomAD - Genomes NC_000001.11 - 794707 Apr 25, 2021 (155)
24 Genome of the Netherlands Release 5 NC_000001.10 - 730087 Apr 25, 2020 (154)
25 Northern Sweden NC_000001.10 - 730087 Jul 12, 2019 (153)
26 SGDP_PRJ NC_000001.10 - 730087 Apr 25, 2020 (154)
27 TopMed NC_000001.11 - 794707 Apr 25, 2021 (155)
28 UK 10K study - Twins NC_000001.10 - 730087 Oct 11, 2018 (152)
29 ALFA NC_000001.11 - 794707 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
ss1584129374 NC_000001.9:719949:T:C NC_000001.11:794706:T:C (self)
2960, 120, 227, 920, 11190, 120, ss328357228, ss974769118, ss1289338271, ss1599378250, ss1642372283, ss2019498290, ss2321501624, ss2750634516, ss2986148128, ss3343272301, ss3726716055, ss3825981400, ss3836378331, ss3847994210 NC_000001.10:730086:T:C NC_000001.11:794706:T:C (self)
56829, 12004, 31021, 12347926722, ss3066391549, ss3685991773, ss3798743222, ss3841782331, ss4436424686 NC_000001.11:794706:T:C NC_000001.11:794706: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 rs148120343

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.post629+eb05767