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
chr8:18400475 (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=0.000375 (94/250858, GnomAD_exome)
C=0.001529 (192/125568, TOPMED)
C=0.000405 (49/121038, ExAC) (+ 5 more)
C=0.00009 (9/94946, ALFA Project)
C=0.00202 (159/78696, PAGE_STUDY)
C=0.00147 (46/31382, GnomAD)
C=0.00138 (18/13006, GO-ESP)
C=0.0008 (4/5008, 1000G)
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.18400475A>C
GRCh37.p13 chr 8 NC_000008.10:g.18257985A>C
NAT2 RefSeqGene NG_012246.1:g.14231A>C
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.472A>C I [ATC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Ile158Leu I (Ile) > L (Leu) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.472A>C I [ATC] > L [CTC] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Ile158Leu I (Ile) > L (Leu) 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 199208 A=0.999839 C=0.000161
European Sub 169868 A=0.999965 C=0.000035
African Sub 4954 A=0.9960 C=0.0040
African Others Sub 176 A=1.000 C=0.000
African American Sub 4778 A=0.9958 C=0.0042
Asian Sub 6350 A=1.0000 C=0.0000
East Asian Sub 4502 A=1.0000 C=0.0000
Other Asian Sub 1848 A=1.0000 C=0.0000
Latin American 1 Sub 796 A=0.999 C=0.001
Latin American 2 Sub 968 A=1.000 C=0.000
South Asian Sub 280 A=1.000 C=0.000
Other Sub 15992 A=0.99969 C=0.00031


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 250858 A=0.999625 C=0.000375
gnomAD - Exomes European Sub 135016 A=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48998 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34506 A=0.99983 C=0.00017
gnomAD - Exomes African Sub 16158 A=0.99474 C=0.00526
gnomAD - Exomes Ashkenazi Jewish Sub 10072 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6108 A=0.9997 C=0.0003
TopMed Global Study-wide 125568 A=0.998471 C=0.001529
ExAC Global Study-wide 121038 A=0.999595 C=0.000405
ExAC Europe Sub 73246 A=1.00000 C=0.00000
ExAC Asian Sub 25134 A=0.99996 C=0.00004
ExAC American Sub 11502 A=0.99974 C=0.00026
ExAC African Sub 10248 A=0.99561 C=0.00439
ExAC Other Sub 908 A=1.000 C=0.000
ALFA Total Global 94946 A=0.99991 C=0.00009
ALFA European Sub 85560 A=0.99995 C=0.00005
ALFA Other Sub 8330 A=0.9998 C=0.0002
ALFA African Sub 844 A=0.996 C=0.004
ALFA Asian Sub 170 A=1.000 C=0.000
ALFA Latin American 2 Sub 22 A=1.00 C=0.00
ALFA South Asian Sub 14 A=1.00 C=0.00
ALFA Latin American 1 Sub 6 A=1.0 C=0.0
The PAGE Study Global Study-wide 78696 A=0.99798 C=0.00202
The PAGE Study AfricanAmerican Sub 32512 A=0.99597 C=0.00403
The PAGE Study Mexican Sub 10810 A=0.99991 C=0.00009
The PAGE Study Asian Sub 8318 A=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9989 C=0.0011
The PAGE Study NativeHawaiian Sub 4532 A=1.0000 C=0.0000
The PAGE Study Cuban Sub 4230 A=0.9995 C=0.0005
The PAGE Study Dominican Sub 3828 A=0.9971 C=0.0029
The PAGE Study CentralAmerican Sub 2450 A=0.9984 C=0.0016
The PAGE Study SouthAmerican Sub 1982 A=0.9995 C=0.0005
The PAGE Study NativeAmerican Sub 1260 A=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 A=1.000 C=0.000
gnomAD - Genomes Global Study-wide 31382 A=0.99853 C=0.00147
gnomAD - Genomes European Sub 18898 A=1.00000 C=0.00000
gnomAD - Genomes African Sub 8706 A=0.9947 C=0.0053
gnomAD - Genomes East Asian Sub 1558 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 1084 A=1.0000 C=0.0000
gnomAD - Genomes American Sub 846 A=1.000 C=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99862 C=0.00138
GO Exome Sequencing Project European American Sub 8600 A=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 A=0.9959 C=0.0041
1000Genomes Global Study-wide 5008 A=0.9992 C=0.0008
1000Genomes African Sub 1322 A=0.9970 C=0.0030
1000Genomes East Asian Sub 1008 A=1.0000 C=0.0000
1000Genomes Europe Sub 1006 A=1.0000 C=0.0000
1000Genomes South Asian Sub 978 A=1.000 C=0.000
1000Genomes American Sub 694 A=1.000 C=0.000

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.18400475= NC_000008.11:g.18400475A>C
GRCh37.p13 chr 8 NC_000008.10:g.18257985= NC_000008.10:g.18257985A>C
NAT2 RefSeqGene NG_012246.1:g.14231= NG_012246.1:g.14231A>C
NAT2 transcript NM_000015.3:c.472= NM_000015.3:c.472A>C
NAT2 transcript NM_000015.2:c.472= NM_000015.2:c.472A>C
NAT2 transcript variant X1 XM_017012938.1:c.472= XM_017012938.1:c.472A>C
arylamine N-acetyltransferase 2 NP_000006.2:p.Ile158= NP_000006.2:p.Ile158Leu
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Ile158= XP_016868427.1:p.Ile158Leu

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, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342253607 May 09, 2011 (134)
2 1000GENOMES ss488883403 May 04, 2012 (137)
3 EXOME_CHIP ss491410759 May 04, 2012 (137)
4 ILLUMINA ss780867824 Sep 08, 2015 (146)
5 ILLUMINA ss783552755 Sep 08, 2015 (146)
6 1000GENOMES ss1328853902 Aug 21, 2014 (142)
7 EVA_EXAC ss1689107868 Apr 01, 2015 (144)
8 ILLUMINA ss1752722185 Sep 08, 2015 (146)
9 ILLUMINA ss1917826205 Feb 12, 2016 (147)
10 ILLUMINA ss1946231109 Feb 12, 2016 (147)
11 ILLUMINA ss1959092403 Feb 12, 2016 (147)
12 HUMAN_LONGEVITY ss2301164553 Dec 20, 2016 (150)
13 TOPMED ss2470822145 Dec 20, 2016 (150)
14 GNOMAD ss2737016699 Nov 08, 2017 (151)
15 GNOMAD ss2748005937 Nov 08, 2017 (151)
16 GNOMAD ss2863932595 Nov 08, 2017 (151)
17 AFFY ss2985432613 Nov 08, 2017 (151)
18 ILLUMINA ss3022824453 Nov 08, 2017 (151)
19 TOPMED ss3555514742 Nov 08, 2017 (151)
20 ILLUMINA ss3630009720 Oct 12, 2018 (152)
21 ILLUMINA ss3635161281 Oct 12, 2018 (152)
22 ILLUMINA ss3640868571 Oct 12, 2018 (152)
23 ILLUMINA ss3644964283 Oct 12, 2018 (152)
24 ILLUMINA ss3653365283 Oct 12, 2018 (152)
25 ILLUMINA ss3654194404 Oct 12, 2018 (152)
26 ILLUMINA ss3726518835 Jul 13, 2019 (153)
27 ILLUMINA ss3744577633 Jul 13, 2019 (153)
28 ILLUMINA ss3745461071 Jul 13, 2019 (153)
29 PAGE_CC ss3771427486 Jul 13, 2019 (153)
30 ILLUMINA ss3772953671 Jul 13, 2019 (153)
31 EVA ss3824350623 Apr 26, 2020 (154)
32 1000Genomes NC_000008.10 - 18257985 Oct 12, 2018 (152)
33 ExAC NC_000008.10 - 18257985 Oct 12, 2018 (152)
34 gnomAD - Genomes NC_000008.10 - 18257985 Jul 13, 2019 (153)
35 gnomAD - Exomes NC_000008.10 - 18257985 Jul 13, 2019 (153)
36 GO Exome Sequencing Project NC_000008.10 - 18257985 Oct 12, 2018 (152)
37 The PAGE Study NC_000008.11 - 18400475 Jul 13, 2019 (153)
38 TopMed NC_000008.11 - 18400475 Oct 12, 2018 (152)
39 dbGaP Population Frequency Project NC_000008.11 - 18400475 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
40947084, 9201226, 111847173, 6184635, 808482, ss342253607, ss488883403, ss491410759, ss780867824, ss783552755, ss1328853902, ss1689107868, ss1752722185, ss1917826205, ss1946231109, ss1959092403, ss2470822145, ss2737016699, ss2748005937, ss2863932595, ss2985432613, ss3022824453, ss3630009720, ss3635161281, ss3640868571, ss3644964283, ss3653365283, ss3654194404, ss3744577633, ss3745461071, ss3772953671, ss3824350623 NC_000008.10:18257984:A:C NC_000008.11:18400474:A:C (self)
648955, 384382874, 316563873, ss2301164553, ss3555514742, ss3726518835, ss3771427486 NC_000008.11:18400474:A:C NC_000008.11:18400474: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 rs139351995


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