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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
chr8:18400625 (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.

Variation Type
SNV Single Nucleotide Variation
C=0.000257 (68/264690, TOPMED)
C=0.000084 (21/251006, GnomAD_exome)
C=0.000028 (5/176756, ALFA) (+ 6 more)
C=0.000228 (32/140220, GnomAD)
C=0.000050 (6/121062, ExAC)
C=0.00047 (37/78698, PAGE_STUDY)
C=0.00031 (4/13006, GO-ESP)
C=0.0002 (1/5008, 1000G)
C=0.0003 (1/3300, PRJNA289433)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
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 176756 T=0.999972 C=0.000028
European Sub 152732 T=0.999993 C=0.000007
African Sub 4452 T=0.9991 C=0.0009
African Others Sub 176 T=1.000 C=0.000
African American Sub 4276 T=0.9991 C=0.0009
Asian Sub 6308 T=1.0000 C=0.0000
East Asian Sub 4462 T=1.0000 C=0.0000
Other Asian Sub 1846 T=1.0000 C=0.0000
Latin American 1 Sub 442 T=1.000 C=0.000
Latin American 2 Sub 948 T=1.000 C=0.000
South Asian Sub 274 T=1.000 C=0.000
Other Sub 11600 T=1.00000 C=0.00000


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
TopMed Global Study-wide 264690 T=0.999743 C=0.000257
gnomAD - Exomes Global Study-wide 251006 T=0.999916 C=0.000084
gnomAD - Exomes European Sub 135118 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 48992 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34550 T=0.99983 C=0.00017
gnomAD - Exomes African Sub 16156 T=0.99907 C=0.00093
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6116 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140220 T=0.999772 C=0.000228
gnomAD - Genomes European Sub 75930 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42040 T=0.99926 C=0.00074
gnomAD - Genomes American Sub 13652 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3126 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9995 C=0.0005
ExAC Global Study-wide 121062 T=0.999950 C=0.000050
ExAC Europe Sub 73278 T=1.00000 C=0.00000
ExAC Asian Sub 25146 T=1.00000 C=0.00000
ExAC American Sub 11538 T=1.00000 C=0.00000
ExAC African Sub 10194 T=0.99941 C=0.00059
ExAC Other Sub 906 T=1.000 C=0.000
The PAGE Study Global Study-wide 78698 T=0.99953 C=0.00047
The PAGE Study AfricanAmerican Sub 32514 T=0.99908 C=0.00092
The PAGE Study Mexican Sub 10810 T=0.99981 C=0.00019
The PAGE Study Asian Sub 8318 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7916 T=0.9996 C=0.0004
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 C=0.0000
The PAGE Study Cuban Sub 4230 T=0.9998 C=0.0002
The PAGE Study Dominican Sub 3828 T=0.9997 C=0.0003
The PAGE Study CentralAmerican Sub 2450 T=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99969 C=0.00031
GO Exome Sequencing Project European American Sub 8600 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9991 C=0.0009
1000Genomes Global Study-wide 5008 T=0.9998 C=0.0002
1000Genomes African Sub 1322 T=0.9992 C=0.0008
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
MxGDAR/Encodat-PGx Global Study-wide 3300 T=0.9997 C=0.0003
MxGDAR/Encodat-PGx MxGDAR Sub 3300 T=0.9997 C=0.0003

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 8 NC_000008.11:g.18400625T>C
GRCh37.p13 chr 8 NC_000008.10:g.18258135T>C
NAT2 RefSeqGene NG_012246.1:g.14381T>C
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.622T>C Y [TAC] > H [CAC] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Tyr208His Y (Tyr) > H (His) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.622T>C Y [TAC] > H [CAC] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Tyr208His Y (Tyr) > H (His) 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

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 8 NC_000008.11:g.18400625= NC_000008.11:g.18400625T>C
GRCh37.p13 chr 8 NC_000008.10:g.18258135= NC_000008.10:g.18258135T>C
NAT2 RefSeqGene NG_012246.1:g.14381= NG_012246.1:g.14381T>C
NAT2 transcript NM_000015.3:c.622= NM_000015.3:c.622T>C
NAT2 transcript NM_000015.2:c.622= NM_000015.2:c.622T>C
NAT2 transcript variant X1 XM_017012938.1:c.622= XM_017012938.1:c.622T>C
arylamine N-acetyltransferase 2 NP_000006.2:p.Tyr208= NP_000006.2:p.Tyr208His
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Tyr208= XP_016868427.1:p.Tyr208His

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#.

31 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGM_KYOTO ss76874104 Dec 07, 2007 (129)
2 1000GENOMES ss488883409 May 04, 2012 (137)
3 EXOME_CHIP ss491410766 May 04, 2012 (137)
4 NHLBI-ESP ss712828713 Apr 25, 2013 (138)
5 ILLUMINA ss780867830 Sep 08, 2015 (146)
6 ILLUMINA ss783552761 Sep 08, 2015 (146)
7 1000GENOMES ss1328853916 Aug 21, 2014 (142)
8 EVA_EXAC ss1689107901 Apr 01, 2015 (144)
9 ILLUMINA ss1752722192 Sep 08, 2015 (146)
10 ILLUMINA ss1917826210 Feb 12, 2016 (147)
11 ILLUMINA ss1946231117 Feb 12, 2016 (147)
12 ILLUMINA ss1959092412 Feb 12, 2016 (147)
13 HUMAN_LONGEVITY ss2301164564 Dec 20, 2016 (150)
14 TOPMED ss2470822162 Dec 20, 2016 (150)
15 GNOMAD ss2737016742 Nov 08, 2017 (151)
16 GNOMAD ss2748005955 Nov 08, 2017 (151)
17 GNOMAD ss2863932613 Nov 08, 2017 (151)
18 AFFY ss2985432619 Nov 08, 2017 (151)
19 TOPMED ss3555514774 Nov 08, 2017 (151)
20 ILLUMINA ss3630009731 Oct 12, 2018 (152)
21 ILLUMINA ss3635161290 Oct 12, 2018 (152)
22 ILLUMINA ss3640868580 Oct 12, 2018 (152)
23 ILLUMINA ss3644964291 Oct 12, 2018 (152)
24 ILLUMINA ss3654194410 Oct 12, 2018 (152)
25 ILLUMINA ss3744577638 Jul 13, 2019 (153)
26 ILLUMINA ss3745461080 Jul 13, 2019 (153)
27 PAGE_CC ss3771427493 Jul 13, 2019 (153)
28 ILLUMINA ss3772953678 Jul 13, 2019 (153)
29 EVA ss3824350633 Apr 26, 2020 (154)
30 EVA ss3984448908 Apr 26, 2021 (155)
31 TOPMED ss4777605083 Apr 26, 2021 (155)
32 1000Genomes NC_000008.10 - 18258135 Oct 12, 2018 (152)
33 ExAC NC_000008.10 - 18258135 Oct 12, 2018 (152)
34 gnomAD - Genomes NC_000008.11 - 18400625 Apr 26, 2021 (155)
35 gnomAD - Exomes NC_000008.10 - 18258135 Jul 13, 2019 (153)
36 GO Exome Sequencing Project NC_000008.10 - 18258135 Oct 12, 2018 (152)
37 The PAGE Study NC_000008.11 - 18400625 Jul 13, 2019 (153)
38 MxGDAR/Encodat-PGx NC_000008.10 - 18258135 Apr 26, 2021 (155)
39 TopMed NC_000008.11 - 18400625 Apr 26, 2021 (155)
40 ALFA NC_000008.11 - 18400625 Apr 26, 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
40947098, 9201260, 6184687, 808491, 1909, ss488883409, ss491410766, ss712828713, ss780867830, ss783552761, ss1328853916, ss1689107901, ss1752722192, ss1917826210, ss1946231117, ss1959092412, ss2470822162, ss2737016742, ss2748005955, ss2863932613, ss2985432619, ss3630009731, ss3635161290, ss3640868580, ss3644964291, ss3654194410, ss3744577638, ss3745461080, ss3772953678, ss3824350633, ss3984448908 NC_000008.10:18258134:T:C NC_000008.11:18400624:T:C (self)
288783720, 648962, 384382899, 614982643, 3290095878, ss2301164564, ss3555514774, ss3771427493, ss4777605083 NC_000008.11:18400624:T:C NC_000008.11:18400624:T:C (self)
ss76874104 NT_167187.1:6116280:T:C NC_000008.11:18400624:T: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 rs56387565


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