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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.

rs1805158

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400193 (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.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000065 (9/139370, ALFA Project)
T=0.000183 (23/125568, TOPMED)
T=0.000289 (35/121006, ExAC) (+ 7 more)
T=0.00005 (4/78698, PAGE_STUDY)
T=0.00013 (4/31386, GnomAD)
T=0.0021 (6/2922, KOREAN)
T=0.0011 (2/1832, Korea1K)
T=0.0073 (9/1232, HapMap)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
6 citations
Genomic View
See rs on genome
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.p12 chr 8 NC_000008.11:g.18400193C>A
GRCh38.p12 chr 8 NC_000008.11:g.18400193C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257703C>A
GRCh37.p13 chr 8 NC_000008.10:g.18257703C>T
NAT2 RefSeqGene NG_012246.1:g.13949C>A
NAT2 RefSeqGene NG_012246.1:g.13949C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.190C>A R [CGG] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg64= R (Arg) > R (Arg) Synonymous Variant
NAT2 transcript NM_000015.3:c.190C>T R [CGG] > W [TGG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg64Trp R (Arg) > W (Trp) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.190C>A R [CGG] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg64= R (Arg) > R (Arg) Synonymous Variant
NAT2 transcript variant X1 XM_017012938.1:c.190C>T R [CGG] > W [TGG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg64Trp R (Arg) > W (Trp) Missense 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

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 139370 C=0.999935 T=0.000065
European Sub 118726 C=0.999992 T=0.000008
African Sub 3746 C=0.9997 T=0.0003
African Others Sub 126 C=1.000 T=0.000
African American Sub 3620 C=0.9997 T=0.0003
Asian Sub 352 C=1.000 T=0.000
East Asian Sub 216 C=1.000 T=0.000
Other Asian Sub 136 C=1.000 T=0.000
Latin American 1 Sub 486 C=1.000 T=0.000
Latin American 2 Sub 1308 C=1.0000 T=0.0000
South Asian Sub 4894 C=0.9992 T=0.0008
Other Sub 9858 C=0.9997 T=0.0003


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
ALFA Total Global 139370 C=0.999935 T=0.000065
ALFA European Sub 118726 C=0.999992 T=0.000008
ALFA Other Sub 9858 C=0.9997 T=0.0003
ALFA South Asian Sub 4894 C=0.9992 T=0.0008
ALFA African Sub 3746 C=0.9997 T=0.0003
ALFA Latin American 2 Sub 1308 C=1.0000 T=0.0000
ALFA Latin American 1 Sub 486 C=1.000 T=0.000
ALFA Asian Sub 352 C=1.000 T=0.000
TopMed Global Study-wide 125568 C=0.999817 T=0.000183
ExAC Global Study-wide 121006 C=0.999711 T=0.000289
ExAC Europe Sub 73184 C=0.99984 T=0.00016
ExAC Asian Sub 25002 C=0.99908 T=0.00092
ExAC American Sub 11522 C=1.00000 T=0.00000
ExAC African Sub 10396 C=1.00000 T=0.00000
ExAC Other Sub 902 C=1.000 T=0.000
The PAGE Study Global Study-wide 78698 C=0.99995 T=0.00005
The PAGE Study AfricanAmerican Sub 32514 C=1.00000 T=0.00000
The PAGE Study Mexican Sub 10808 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 C=0.9995 T=0.0005
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 C=1.0000 T=0.0000
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 31386 C=0.99987 T=0.00013
gnomAD - Genomes European Sub 18900 C=0.99995 T=0.00005
gnomAD - Genomes African Sub 8704 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 1558 C=0.9987 T=0.0013
gnomAD - Genomes Other Sub 1086 C=1.0000 T=0.0000
gnomAD - Genomes American Sub 848 C=1.000 T=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.997 T=0.003
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9979 T=0.0021
Korean Genome Project KOREAN Study-wide 1832 C=0.9989 T=0.0011
HapMap Global Study-wide 1232 C=0.9927 T=0.0073
HapMap American Sub 666 C=0.991 T=0.009
HapMap African Sub 402 C=0.995 T=0.005
HapMap Asian Sub 164 C=0.994 T=0.006
SGDP_PRJ Global Study-wide 2 C=0.5 T=0.5
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 C= A T
GRCh38.p12 chr 8 NC_000008.11:g.18400193= NC_000008.11:g.18400193C>A NC_000008.11:g.18400193C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257703= NC_000008.10:g.18257703C>A NC_000008.10:g.18257703C>T
NAT2 RefSeqGene NG_012246.1:g.13949= NG_012246.1:g.13949C>A NG_012246.1:g.13949C>T
NAT2 transcript NM_000015.3:c.190= NM_000015.3:c.190C>A NM_000015.3:c.190C>T
NAT2 transcript NM_000015.2:c.190= NM_000015.2:c.190C>A NM_000015.2:c.190C>T
NAT2 transcript variant X1 XM_017012938.1:c.190= XM_017012938.1:c.190C>A XM_017012938.1:c.190C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg64= NP_000006.2:p.Arg64= NP_000006.2:p.Arg64Trp
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg64= XP_016868427.1:p.Arg64= XP_016868427.1:p.Arg64Trp
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#.

58 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2426082 Nov 14, 2000 (89)
2 AFFY ss74813496 Aug 16, 2007 (128)
3 CGM_KYOTO ss76869167 Dec 06, 2007 (129)
4 ILLUMINA ss480301792 May 04, 2012 (137)
5 ILLUMINA ss480312868 May 04, 2012 (137)
6 ILLUMINA ss481068965 Sep 08, 2015 (146)
7 ILLUMINA ss484948689 May 04, 2012 (137)
8 EXOME_CHIP ss491410753 May 04, 2012 (137)
9 ILLUMINA ss536992682 Sep 08, 2015 (146)
10 ILLUMINA ss778841622 Sep 08, 2015 (146)
11 ILLUMINA ss780682585 Sep 08, 2015 (146)
12 ILLUMINA ss782920651 Sep 08, 2015 (146)
13 ILLUMINA ss783355939 Sep 08, 2015 (146)
14 ILLUMINA ss783883658 Sep 08, 2015 (146)
15 ILLUMINA ss832175780 Sep 08, 2015 (146)
16 ILLUMINA ss832841919 Jul 13, 2019 (153)
17 ILLUMINA ss834302181 Sep 08, 2015 (146)
18 EVA_EXAC ss1689107809 Apr 01, 2015 (144)
19 ILLUMINA ss1752722177 Sep 08, 2015 (146)
20 ILLUMINA ss1752722178 Sep 08, 2015 (146)
21 ILLUMINA ss1917826201 Feb 12, 2016 (147)
22 ILLUMINA ss1946231104 Feb 12, 2016 (147)
23 ILLUMINA ss1959092394 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2301164528 Dec 20, 2016 (150)
25 ILLUMINA ss2634717893 Nov 08, 2017 (151)
26 ILLUMINA ss2634717894 Nov 08, 2017 (151)
27 ILLUMINA ss2711131664 Nov 08, 2017 (151)
28 GNOMAD ss2737016608 Nov 08, 2017 (151)
29 GNOMAD ss2748005911 Nov 08, 2017 (151)
30 GNOMAD ss2863932569 Nov 08, 2017 (151)
31 AFFY ss2985432608 Nov 08, 2017 (151)
32 AFFY ss2986074654 Nov 08, 2017 (151)
33 TOPMED ss3555514689 Nov 08, 2017 (151)
34 ILLUMINA ss3630009710 Oct 12, 2018 (152)
35 ILLUMINA ss3630009711 Oct 12, 2018 (152)
36 ILLUMINA ss3632618563 Oct 12, 2018 (152)
37 ILLUMINA ss3633492977 Oct 12, 2018 (152)
38 ILLUMINA ss3634219380 Oct 12, 2018 (152)
39 ILLUMINA ss3635161273 Oct 12, 2018 (152)
40 ILLUMINA ss3635161274 Oct 12, 2018 (152)
41 ILLUMINA ss3636898276 Oct 12, 2018 (152)
42 ILLUMINA ss3637651506 Oct 12, 2018 (152)
43 ILLUMINA ss3638747284 Oct 12, 2018 (152)
44 ILLUMINA ss3640868563 Oct 12, 2018 (152)
45 ILLUMINA ss3640868564 Oct 12, 2018 (152)
46 ILLUMINA ss3643679164 Oct 12, 2018 (152)
47 ILLUMINA ss3644964278 Oct 12, 2018 (152)
48 ILLUMINA ss3654194398 Oct 12, 2018 (152)
49 ILLUMINA ss3744577629 Jul 13, 2019 (153)
50 ILLUMINA ss3745461063 Jul 13, 2019 (153)
51 ILLUMINA ss3745461064 Jul 13, 2019 (153)
52 EVA ss3767698251 Jul 13, 2019 (153)
53 PAGE_CC ss3771427481 Jul 13, 2019 (153)
54 ILLUMINA ss3772953663 Jul 13, 2019 (153)
55 ILLUMINA ss3772953664 Jul 13, 2019 (153)
56 SGDP_PRJ ss3869405005 Apr 26, 2020 (154)
57 KRGDB ss3916829874 Apr 26, 2020 (154)
58 KOGIC ss3963375439 Apr 26, 2020 (154)
59 ExAC NC_000008.10 - 18257703 Oct 12, 2018 (152)
60 gnomAD - Genomes NC_000008.10 - 18257703 Jul 13, 2019 (153)
61 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184535 (NC_000008.10:18257702:C:C 250633/250634, NC_000008.10:18257702:C:A 1/250634)
Row 6184536 (NC_000008.10:18257702:C:C 250567/250634, NC_000008.10:18257702:C:T 67/250634)

- Jul 13, 2019 (153)
62 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184535 (NC_000008.10:18257702:C:C 250633/250634, NC_000008.10:18257702:C:A 1/250634)
Row 6184536 (NC_000008.10:18257702:C:C 250567/250634, NC_000008.10:18257702:C:T 67/250634)

- Jul 13, 2019 (153)
63 HapMap NC_000008.11 - 18400193 Apr 26, 2020 (154)
64 KOREAN population from KRGDB NC_000008.10 - 18257703 Apr 26, 2020 (154)
65 Korean Genome Project NC_000008.11 - 18400193 Apr 26, 2020 (154)
66 The PAGE Study NC_000008.11 - 18400193 Jul 13, 2019 (153)
67 SGDP_PRJ NC_000008.10 - 18257703 Apr 26, 2020 (154)
68 TopMed NC_000008.11 - 18400193 Oct 12, 2018 (152)
69 dbGaP Population Frequency Project NC_000008.11 - 18400193 Apr 26, 2020 (154)
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).

Associated ID History Updated (Build)
rs4986995 Apr 07, 2003 (113)
rs52819949 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2737016608 NC_000008.10:18257702:C:A NC_000008.11:18400192:C:A (self)
ss480301792, ss3643679164 NC_000008.9:18301982:C:T NC_000008.11:18400192:C:T (self)
9201163, 111847149, 24007268, 21421985, ss480312868, ss481068965, ss484948689, ss491410753, ss536992682, ss778841622, ss780682585, ss782920651, ss783355939, ss783883658, ss832175780, ss832841919, ss834302181, ss1689107809, ss1752722177, ss1752722178, ss1917826201, ss1946231104, ss1959092394, ss2634717893, ss2634717894, ss2711131664, ss2737016608, ss2748005911, ss2863932569, ss2985432608, ss2986074654, ss3630009710, ss3630009711, ss3632618563, ss3633492977, ss3634219380, ss3635161273, ss3635161274, ss3636898276, ss3637651506, ss3638747284, ss3640868563, ss3640868564, ss3644964278, ss3654194398, ss3744577629, ss3745461063, ss3745461064, ss3767698251, ss3772953663, ss3772953664, ss3869405005, ss3916829874 NC_000008.10:18257702:C:T NC_000008.11:18400192:C:T (self)
3577443, 19753440, 648950, 384382828, 711739160, ss2301164528, ss3555514689, ss3771427481, ss3963375439 NC_000008.11:18400192:C:T NC_000008.11:18400192:C:T (self)
ss2426082, ss74813496, ss76869167 NT_167187.1:6115848:C:T NC_000008.11:18400192:C:T (self)
Help

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

6 citations for rs1805158
PMID Title Author Year Journal
18547414 Genotyping panel for assessing response to cancer chemotherapy. Dai Z et al. 2008 BMC medical genomics
18680467 Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Walraven JM et al. 2008 Current drug metabolism
21037224 GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis. Moore LE et al. 2011 Carcinogenesis
21678399 Hair dye use and risk of bladder cancer in the New England bladder cancer study. Koutros S et al. 2011 International journal of cancer
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
26785747 Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. Iskakova AN et al. 2016 BMC genetics

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.post502+8584b1c