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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1489821272

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:63956993 (GRCh38.p14) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000019 (5/264690, TOPMED)
C=0.000029 (4/140094, GnomAD)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF512B : 3 Prime UTR Variant
UCKL1 : 2KB Upstream Variant
UCKL1-AS1 : 500B Downstream 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 A=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 A=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 A=1.000 C=0.000 1.0 0.0 0.0 N/A


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 A=0.999981 C=0.000019
gnomAD - Genomes Global Study-wide 140094 A=0.999971 C=0.000029
gnomAD - Genomes European Sub 75808 A=0.99995 C=0.00005
gnomAD - Genomes African Sub 42028 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13662 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2148 A=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=0.00
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.p14 chr 20 NC_000020.11:g.63956993A>C
GRCh37.p13 chr 20 NC_000020.10:g.62588346A>C
Gene: ZNF512B, zinc finger protein 512B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF512B transcript NM_020713.3:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X1 XM_047440326.1:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X2 XM_047440327.1:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X3 XM_011528930.3:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X4 XM_047440328.1:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X5 XM_047440329.1:c.*2895= N/A 3 Prime UTR Variant
ZNF512B transcript variant X6 XM_011528933.3:c. N/A Genic Downstream Transcript Variant
Gene: UCKL1, uridine-cytidine kinase 1 like 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
UCKL1 transcript variant 4 NM_001353475.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 5 NM_001353476.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 6 NM_001353477.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 9 NM_001353480.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 10 NM_001353481.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 11 NM_001353482.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 1 NM_017859.4:c. N/A Upstream Transcript Variant
UCKL1 transcript variant 2 NM_001193379.2:c. N/A N/A
UCKL1 transcript variant 7 NM_001353478.2:c. N/A N/A
UCKL1 transcript variant 8 NM_001353479.2:c. N/A N/A
UCKL1 transcript variant 3 NR_126526.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 12 NR_148434.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 13 NR_148435.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 14 NR_148436.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 15 NR_148437.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 16 NR_148438.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 17 NR_148439.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 18 NR_148440.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 19 NR_148441.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant 20 NR_148442.2:n. N/A Upstream Transcript Variant
UCKL1 transcript variant X8 XM_005260216.3:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X1 XM_006723806.3:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X4 XM_006723807.3:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X9 XM_006723809.2:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X3 XM_017027894.3:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X5 XM_047440226.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X7 XM_047440227.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X11 XM_047440228.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X15 XM_047440232.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X17 XM_047440234.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X18 XM_047440235.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X19 XM_047440236.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X20 XM_047440237.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X21 XM_047440238.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X22 XM_047440239.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X23 XM_047440240.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X24 XM_047440241.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X25 XM_047440242.1:c. N/A Upstream Transcript Variant
UCKL1 transcript variant X12 XM_047440229.1:c. N/A N/A
UCKL1 transcript variant X13 XM_047440230.1:c. N/A N/A
UCKL1 transcript variant X14 XM_047440231.1:c. N/A N/A
UCKL1 transcript variant X16 XM_047440233.1:c. N/A N/A
UCKL1 transcript variant X26 XM_047440243.1:c. N/A N/A
UCKL1 transcript variant X27 XM_047440244.1:c. N/A N/A
UCKL1 transcript variant X2 XR_007067459.1:n. N/A Upstream Transcript Variant
UCKL1 transcript variant X6 XR_007067460.1:n. N/A Upstream Transcript Variant
UCKL1 transcript variant X10 XR_007067461.1:n. N/A Upstream Transcript Variant
Gene: UCKL1-AS1, UCKL1 antisense RNA 1 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
UCKL1-AS1 transcript NR_027287.2:n. N/A Downstream 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 A= C
GRCh38.p14 chr 20 NC_000020.11:g.63956993= NC_000020.11:g.63956993A>C
GRCh37.p13 chr 20 NC_000020.10:g.62588346= NC_000020.10:g.62588346A>C
ZNF512B transcript variant X3 XM_011528930.3:c.*2895= XM_011528930.3:c.*2895T>G
ZNF512B transcript variant X5 XM_011528930.2:c.*2895= XM_011528930.2:c.*2895T>G
ZNF512B transcript variant X3 XM_011528930.1:c.*2895= XM_011528930.1:c.*2895T>G
ZNF512B transcript NM_020713.3:c.*2895= NM_020713.3:c.*2895T>G
ZNF512B transcript NM_020713.2:c.*2895= NM_020713.2:c.*2895T>G
ZNF512B transcript variant X1 XM_047440326.1:c.*2895= XM_047440326.1:c.*2895T>G
ZNF512B transcript variant X2 XM_047440327.1:c.*2895= XM_047440327.1:c.*2895T>G
ZNF512B transcript variant X5 XM_047440329.1:c.*2895= XM_047440329.1:c.*2895T>G
ZNF512B transcript variant X4 XM_047440328.1:c.*2895= XM_047440328.1:c.*2895T>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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4356529804 Apr 27, 2021 (155)
2 TOPMED ss5094846819 Apr 27, 2021 (155)
3 gnomAD - Genomes NC_000020.11 - 63956993 Apr 27, 2021 (155)
4 TopMed NC_000020.11 - 63956993 Apr 27, 2021 (155)
5 ALFA NC_000020.11 - 63956993 Apr 27, 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
557091586, 369955764, 8320695613, ss4356529804, ss5094846819 NC_000020.11:63956992:A:C NC_000020.11:63956992:A: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 rs1489821272

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.post820+afb47a3d