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
chr8:18400437 (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
SNV Single Nucleotide Variation
C=0.000088 (22/250852, GnomAD_exome)
C=0.000083 (10/120902, ExAC)
C=0.0001 (1/8986, ALFA Project)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Missense 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.p12 chr 8 NC_000008.11:g.18400437A>C
GRCh37.p13 chr 8 NC_000008.10:g.18257947A>C
NAT2 RefSeqGene NG_012246.1:g.14193A>C
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.434A>C Q [CAG] > P [CCG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Gln145Pro Q (Gln) > P (Pro) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.434A>C Q [CAG] > P [CCG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Gln145Pro Q (Gln) > P (Pro) Missense 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 (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 8986 A=0.9999 C=0.0001
European Sub 6062 A=1.0000 C=0.0000
African Sub 594 A=1.000 C=0.000
African Others Sub 8 A=1.0 C=0.0
African American Sub 586 A=1.000 C=0.000
Asian Sub 56 A=1.00 C=0.00
East Asian Sub 26 A=1.00 C=0.00
Other Asian Sub 30 A=1.00 C=0.00
Latin American 1 Sub 0 A=0 C=0
Latin American 2 Sub 0 A=0 C=0
South Asian Sub 0 A=0 C=0
Other Sub 2274 A=0.9996 C=0.0004


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 - Exomes Global Study-wide 250852 A=0.999912 C=0.000088
gnomAD - Exomes European Sub 134992 A=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48976 A=0.99994 C=0.00006
gnomAD - Exomes American Sub 34494 A=0.99945 C=0.00055
gnomAD - Exomes African Sub 16234 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10050 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6106 A=1.0000 C=0.0000
ExAC Global Study-wide 120902 A=0.999917 C=0.000083
ExAC Europe Sub 73158 A=1.00000 C=0.00000
ExAC Asian Sub 25016 A=0.99992 C=0.00008
ExAC American Sub 11512 A=0.99931 C=0.00069
ExAC African Sub 10310 A=1.00000 C=0.00000
ExAC Other Sub 906 A=1.000 C=0.000
ALFA Total Global 8986 A=0.9999 C=0.0001
ALFA European Sub 6062 A=1.0000 C=0.0000
ALFA Other Sub 2274 A=0.9996 C=0.0004
ALFA African Sub 594 A=1.000 C=0.000
ALFA Asian Sub 56 A=1.00 C=0.00
ALFA Latin American 1 Sub 0 A=0 C=0
ALFA Latin American 2 Sub 0 A=0 C=0
ALFA South Asian Sub 0 A=0 C=0

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.p12 chr 8 NC_000008.11:g.18400437= NC_000008.11:g.18400437A>C
GRCh37.p13 chr 8 NC_000008.10:g.18257947= NC_000008.10:g.18257947A>C
NAT2 RefSeqGene NG_012246.1:g.14193= NG_012246.1:g.14193A>C
NAT2 transcript NM_000015.3:c.434= NM_000015.3:c.434A>C
NAT2 transcript NM_000015.2:c.434= NM_000015.2:c.434A>C
NAT2 transcript variant X1 XM_017012938.1:c.434= XM_017012938.1:c.434A>C
arylamine N-acetyltransferase 2 NP_000006.2:p.Gln145= NP_000006.2:p.Gln145Pro
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Gln145= XP_016868427.1:p.Gln145Pro

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#.

4 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 AFFY_DM3_1 ss105434764 Feb 13, 2009 (130)
2 EVA_EXAC ss1689107861 Apr 01, 2015 (144)
3 ILLUMINA ss2711131671 Nov 08, 2017 (151)
4 GNOMAD ss2737016688 Nov 08, 2017 (151)
5 ExAC NC_000008.10 - 18257947 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000008.10 - 18257947 Jul 13, 2019 (153)
7 dbGaP Population Frequency Project NC_000008.11 - 18400437 Apr 26, 2020 (154)

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
9201219, 6184627, ss1689107861, ss2711131671, ss2737016688 NC_000008.10:18257946:A:C NC_000008.11:18400436:A:C (self)
957143455 NC_000008.11:18400436:A:C NC_000008.11:18400436:A:C
ss105434764 NT_167187.1:6116092:A:C NC_000008.11:18400436:A:C (self)

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

No publications for rs72554616


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.post536+f5d31d6