Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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 154

Released April 21, 2020

Homo sapiens
chr8:18223020-18223023 (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.

Variation Type
Indel Insertion and Deletion
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : 3 Prime UTR Variant
1 citation
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.p12 chr 8 NC_000008.11:g.18223023del
GRCh37.p13 chr 8 NC_000008.10:g.18080532del
NAT1 RefSeqGene NG_012245.2:g.57562del
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 4 NM_001160173.3:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 5 NM_000662.8:c.*100_*103= N/A 3 Prime UTR Variant
NAT1 transcript variant 1 NM_001160170.4:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 8 NM_001160176.4:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 10 NM_001291962.2:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 9 NM_001160179.3:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 2 NM_001160171.4:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 7 NM_001160175.4:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant 3 NM_001160172.4:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant X2 XM_011544687.1:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant X1 XM_011544688.1:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant X3 XM_017013947.1:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant X4 XM_006716410.3:c.*100_*10…


N/A 3 Prime UTR Variant
NAT1 transcript variant X5 XM_011544689.2:c.*100_*10…


N/A 3 Prime UTR 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

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").


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)4= delA
GRCh38.p12 chr 8 NC_000008.11:g.18223020_18223023= NC_000008.11:g.18223023del
GRCh37.p13 chr 8 NC_000008.10:g.18080529_18080532= NC_000008.10:g.18080532del
NAT1 RefSeqGene NG_012245.2:g.57559_57562= NG_012245.2:g.57562del
NAT1 transcript variant 5 NM_000662.8:c.*100_*103= NM_000662.8:c.*103del
NAT1 transcript variant 5 NM_000662.7:c.*100_*103= NM_000662.7:c.*103del
NAT1 transcript variant 5 NM_000662.5:c.*100_*103= NM_000662.5:c.*103del
NAT1 transcript variant 1 NM_001160170.4:c.*100_*103= NM_001160170.4:c.*103del
NAT1 transcript variant 1 NM_001160170.3:c.*100_*103= NM_001160170.3:c.*103del
NAT1 transcript variant 1 NM_001160170.1:c.*100_*103= NM_001160170.1:c.*103del
NAT1 transcript variant 2 NM_001160171.4:c.*100_*103= NM_001160171.4:c.*103del
NAT1 transcript variant 2 NM_001160171.3:c.*100_*103= NM_001160171.3:c.*103del
NAT1 transcript variant 2 NM_001160171.1:c.*100_*103= NM_001160171.1:c.*103del
NAT1 transcript variant 3 NM_001160172.4:c.*100_*103= NM_001160172.4:c.*103del
NAT1 transcript variant 3 NM_001160172.3:c.*100_*103= NM_001160172.3:c.*103del
NAT1 transcript variant 3 NM_001160172.1:c.*100_*103= NM_001160172.1:c.*103del
NAT1 transcript variant 7 NM_001160175.4:c.*100_*103= NM_001160175.4:c.*103del
NAT1 transcript variant 7 NM_001160175.3:c.*100_*103= NM_001160175.3:c.*103del
NAT1 transcript variant 7 NM_001160175.1:c.*100_*103= NM_001160175.1:c.*103del
NAT1 transcript variant 8 NM_001160176.4:c.*100_*103= NM_001160176.4:c.*103del
NAT1 transcript variant 8 NM_001160176.3:c.*100_*103= NM_001160176.3:c.*103del
NAT1 transcript variant 8 NM_001160176.1:c.*100_*103= NM_001160176.1:c.*103del
NAT1 transcript variant 9 NM_001160179.3:c.*100_*103= NM_001160179.3:c.*103del
NAT1 transcript variant 9 NM_001160179.2:c.*100_*103= NM_001160179.2:c.*103del
NAT1 transcript variant 9 NM_001160179.1:c.*100_*103= NM_001160179.1:c.*103del
NAT1 transcript variant 4 NM_001160173.3:c.*100_*103= NM_001160173.3:c.*103del
NAT1 transcript variant 4 NM_001160173.1:c.*100_*103= NM_001160173.1:c.*103del
NAT1 transcript variant 10 NM_001291962.2:c.*100_*103= NM_001291962.2:c.*103del
NAT1 transcript variant 10 NM_001291962.1:c.*100_*103= NM_001291962.1:c.*103del
NAT1 transcript variant 6 NM_001160174.2:c.*100_*103= NM_001160174.2:c.*103del
NAT1 transcript variant 6 NM_001160174.1:c.*100_*103= NM_001160174.1:c.*103del
NAT1 transcript variant X4 XM_006716410.3:c.*100_*103= XM_006716410.3:c.*103del
NAT1 transcript variant X5 XM_011544689.2:c.*100_*103= XM_011544689.2:c.*103del
NAT1 transcript variant X3 XM_017013947.1:c.*100_*103= XM_017013947.1:c.*103del
NAT1 transcript variant X2 XM_011544687.1:c.*100_*103= XM_011544687.1:c.*103del
NAT1 transcript variant X1 XM_011544688.1:c.*100_*103= XM_011544688.1:c.*103del

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 submissions
No Submitter Submission ID Date (Build)
1 AFFY_DM3_1 ss105434760 Feb 13, 2009 (130)
2 ILLUMINA ss2711131565 Nov 08, 2017 (151)

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
ss2711131565 NC_000008.10:18080531:A: NC_000008.11:18223019:AAAA:AAA (self)
ss105434760 NT_167187.1:5938677:A: NC_000008.11:18223019:AAAA:AAA (self)

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

1 citation for rs72554612
PMID Title Author Year Journal
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports

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.post557+f76c771