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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:839421-839430 (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.

delACAC / delAC
Variation Type
Indel Insertion and Deletion
delAC=0.013696 (1652/120620, GnomAD)
delAC=0.17543 (2817/16058, 8.3KJPN)
delACAC=0.00000 (0/11550, ALFA) (+ 4 more)
delAC=0.00000 (0/11550, ALFA)
delAC=0.0013 (5/3854, ALSPAC)
delAC=0.0005 (2/3708, TWINSUK)
delAC=0.1423 (255/1792, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LINC01128 : Intron Variant
0 citations
Genomic View
See rs on genome

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.839421AC[3]
GRCh38.p13 chr 1 NC_000001.11:g.839421AC[4]
GRCh37.p13 chr 1 NC_000001.10:g.774801AC[3]
GRCh37.p13 chr 1 NC_000001.10:g.774801AC[4]
Gene: LINC01128, long intergenic non-protein coding RNA 1128 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LINC01128 transcript variant 1 NR_047519.1:n. N/A Intron Variant
LINC01128 transcript variant 3 NR_047521.1:n. N/A Intron Variant
LINC01128 transcript variant 5 NR_047523.1:n. N/A Intron Variant
LINC01128 transcript variant 7 NR_047524.1:n. N/A Intron Variant
LINC01128 transcript variant 8 NR_047525.1:n. N/A Intron Variant
LINC01128 transcript variant 9 NR_047526.1:n. N/A Intron Variant

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 11550 ACACACACAC=1.00000 ACACAC=0.00000, ACACACAC=0.00000
European Sub 7602 ACACACACAC=1.0000 ACACAC=0.0000, ACACACAC=0.0000
African Sub 2688 ACACACACAC=1.0000 ACACAC=0.0000, ACACACAC=0.0000
African Others Sub 104 ACACACACAC=1.000 ACACAC=0.000, ACACACAC=0.000
African American Sub 2584 ACACACACAC=1.0000 ACACAC=0.0000, ACACACAC=0.0000
Asian Sub 80 ACACACACAC=1.00 ACACAC=0.00, ACACACAC=0.00
East Asian Sub 58 ACACACACAC=1.00 ACACAC=0.00, ACACACAC=0.00
Other Asian Sub 22 ACACACACAC=1.00 ACACAC=0.00, ACACACAC=0.00
Latin American 1 Sub 136 ACACACACAC=1.000 ACACAC=0.000, ACACACAC=0.000
Latin American 2 Sub 522 ACACACACAC=1.000 ACACAC=0.000, ACACACAC=0.000
South Asian Sub 86 ACACACACAC=1.00 ACACAC=0.00, ACACACAC=0.00
Other Sub 436 ACACACACAC=1.000 ACACAC=0.000, ACACACAC=0.000


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 120620 (AC)5=0.986304 delAC=0.013696
gnomAD - Genomes European Sub 67782 (AC)5=0.99929 delAC=0.00071
gnomAD - Genomes African Sub 34300 (AC)5=0.97915 delAC=0.02085
gnomAD - Genomes American Sub 10956 (AC)5=0.95591 delAC=0.04409
gnomAD - Genomes Ashkenazi Jewish Sub 3086 (AC)5=0.9932 delAC=0.0068
gnomAD - Genomes East Asian Sub 2664 (AC)5=0.8735 delAC=0.1265
gnomAD - Genomes Other Sub 1832 (AC)5=0.9738 delAC=0.0262
8.3KJPN JAPANESE Study-wide 16058 (AC)5=0.82457 delAC=0.17543
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (AC)5=0.9987 delAC=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 (AC)5=0.9995 delAC=0.0005
Korean Genome Project KOREAN Study-wide 1792 (AC)5=0.8577 delAC=0.1423

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 (AC)5= delACAC delAC
GRCh38.p13 chr 1 NC_000001.11:g.839421_839430= NC_000001.11:g.839421AC[3] NC_000001.11:g.839421AC[4]
GRCh37.p13 chr 1 NC_000001.10:g.774801_774810= NC_000001.10:g.774801AC[3] NC_000001.10:g.774801AC[4]

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#.

17 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss287939303 May 04, 2012 (137)
2 1000GENOMES ss325997450 May 09, 2011 (134)
3 LUNTER ss550899130 Apr 25, 2013 (138)
4 LUNTER ss552738991 Apr 25, 2013 (138)
5 SSMP ss663205509 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1700142546 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1700153462 Apr 01, 2015 (144)
8 GNOMAD ss2750639155 Nov 08, 2017 (151)
9 MCHAISSO ss3063573498 Nov 08, 2017 (151)
10 MCHAISSO ss3063573499 Nov 08, 2017 (151)
11 MCHAISSO ss3064386006 Nov 08, 2017 (151)
12 MCHAISSO ss3065282486 Nov 08, 2017 (151)
13 TOPMED ss3066400808 Nov 08, 2017 (151)
14 TOPMED ss3066400809 Nov 08, 2017 (151)
15 EVA_DECODE ss3685992177 Jul 12, 2019 (153)
16 KOGIC ss3943629671 Apr 25, 2020 (154)
17 TOMMO_GENOMICS ss5142052259 Apr 25, 2021 (155)
18 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 774801 Oct 11, 2018 (152)
19 gnomAD - Genomes NC_000001.11 - 839421 Apr 25, 2021 (155)
20 Korean Genome Project NC_000001.11 - 839421 Apr 25, 2020 (154)
21 8.3KJPN NC_000001.10 - 774801 Apr 25, 2021 (155)
22 UK 10K study - Twins NC_000001.10 - 774801 Oct 11, 2018 (152)
23 ALFA NC_000001.11 - 839421 Apr 25, 2021 (155)

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
ss3066400809 NC_000001.11:839420:ACAC: NC_000001.11:839420:ACACACACAC:ACA…


14862977581 NC_000001.11:839420:ACACACACAC:ACA…




ss287939303, ss325997450, ss550899130, ss552738991 NC_000001.9:764663:AC: NC_000001.11:839420:ACACACACAC:ACA…


329, 21566, 329, ss663205509, ss1700142546, ss1700153462, ss2750639155, ss5142052259 NC_000001.10:774800:AC: NC_000001.11:839420:ACACACACAC:ACA…


66103, 7672, ss3063573498, ss3063573499, ss3064386006, ss3065282486, ss3066400808, ss3685992177, ss3943629671 NC_000001.11:839420:AC: NC_000001.11:839420:ACACACACAC:ACA…


14862977581 NC_000001.11:839420:ACACACACAC:ACA…





Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs143445210


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