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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.

rs1208

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400806 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.385074 (48353/125568, TOPMED)
G=0.382796 (45862/119808, ExAC)
G=0.424940 (45200/106368, ALFA Project) (+ 20 more)
G=0.33942 (26711/78696, PAGE_STUDY)
G=0.40058 (12539/31302, GnomAD)
G=0.3229 (1617/5008, 1000G)
G=0.4504 (2018/4480, Estonian)
G=0.4193 (1616/3854, ALSPAC)
G=0.4283 (1588/3708, TWINSUK)
G=0.0212 (62/2930, KOREAN)
G=0.3234 (674/2084, HGDP_Stanford)
G=0.3388 (639/1886, HapMap)
G=0.0229 (42/1832, Korea1K)
G=0.442 (441/998, GoNL)
G=0.075 (46/616, Vietnamese)
G=0.450 (270/600, NorthernSweden)
A=0.444 (237/534, MGP)
G=0.200 (95/474, SGDP_PRJ)
G=0.203 (71/350, PharmGKB)
G=0.438 (133/304, FINRISK)
A=0.486 (105/216, Qatari)
G=0.39 (17/44, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
65 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.18400806G>A
GRCh38.p12 chr 8 NC_000008.11:g.18400806G>C
GRCh38.p12 chr 8 NC_000008.11:g.18400806G>T
GRCh37.p13 chr 8 NC_000008.10:g.18258316G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258316G>C
GRCh37.p13 chr 8 NC_000008.10:g.18258316G>T
NAT2 RefSeqGene NG_012246.1:g.14562G>A
NAT2 RefSeqGene NG_012246.1:g.14562G>C
NAT2 RefSeqGene NG_012246.1:g.14562G>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.803G>A R [AGA] > K [AAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg268Lys R (Arg) > K (Lys) Missense Variant
NAT2 transcript NM_000015.3:c.803G>C R [AGA] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg268Thr R (Arg) > T (Thr) Missense Variant
NAT2 transcript NM_000015.3:c.803G>T R [AGA] > I [ATA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg268Ile R (Arg) > I (Ile) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.803G>A R [AGA] > K [AAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg268Lys R (Arg) > K (Lys) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.803G>C R [AGA] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg268Thr R (Arg) > T (Thr) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.803G>T R [AGA] > I [ATA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg268Ile R (Arg) > I (Ile) 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.

Allele: G= (allele ID: 15763 )
ClinVar Accession Disease Names Clinical Significance
RCV000000760.1 Slow acetylator due to N-acetyltransferase enzyme variant Drug-Response

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 240606 G=0.425006 A=0.574994, T=0.000000
European Sub 210812 G=0.434321 A=0.565679, T=0.000000
African Sub 5368 G=0.4419 A=0.5581, T=0.0000
African Others Sub 178 G=0.421 A=0.579, T=0.000
African American Sub 5190 G=0.4426 A=0.5574, T=0.0000
Asian Sub 3442 G=0.0302 A=0.9698, T=0.0000
East Asian Sub 2762 G=0.0268 A=0.9732, T=0.0000
Other Asian Sub 680 G=0.044 A=0.956, T=0.000
Latin American 1 Sub 952 G=0.474 A=0.526, T=0.000
Latin American 2 Sub 3268 G=0.3797 A=0.6203, T=0.0000
South Asian Sub 5088 G=0.3634 A=0.6366, T=0.0000
Other Sub 11676 G=0.40099 A=0.59901, T=0.00000


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
TopMed Global Study-wide 125568 G=0.385074 A=0.614926
ExAC Global Study-wide 119808 G=0.382796 A=0.617204
ExAC Europe Sub 72448 G=0.43386 A=0.56614
ExAC Asian Sub 25026 G=0.24738 A=0.75262
ExAC American Sub 11484 G=0.34605 A=0.65395
ExAC African Sub 9954 G=0.3905 A=0.6095
ExAC Other Sub 896 G=0.422 A=0.578
ALFA Total Global 106368 G=0.424940 A=0.575060
ALFA European Sub 91704 G=0.43251 A=0.56749
ALFA South Asian Sub 4858 G=0.3627 A=0.6373
ALFA Other Sub 4222 G=0.3884 A=0.6116
ALFA African Sub 2940 G=0.4194 A=0.5806
ALFA Latin American 2 Sub 2252 G=0.3641 A=0.6359
ALFA Asian Sub 220 G=0.055 A=0.945
ALFA Latin American 1 Sub 172 G=0.407 A=0.593
The PAGE Study Global Study-wide 78696 G=0.33942 A=0.66058
The PAGE Study AfricanAmerican Sub 32512 G=0.40250 A=0.59750
The PAGE Study Mexican Sub 10810 G=0.35143 A=0.64857
The PAGE Study Asian Sub 8318 G=0.0343 A=0.9657
The PAGE Study PuertoRican Sub 7918 G=0.4101 A=0.5899
The PAGE Study NativeHawaiian Sub 4534 G=0.1323 A=0.8677
The PAGE Study Cuban Sub 4228 G=0.4383 A=0.5617
The PAGE Study Dominican Sub 3828 G=0.4227 A=0.5773
The PAGE Study CentralAmerican Sub 2450 G=0.3184 A=0.6816
The PAGE Study SouthAmerican Sub 1982 G=0.3249 A=0.6751
The PAGE Study NativeAmerican Sub 1260 G=0.3937 A=0.6063
The PAGE Study SouthAsian Sub 856 G=0.354 A=0.646
gnomAD - Genomes Global Study-wide 31302 G=0.40058 A=0.59942
gnomAD - Genomes European Sub 18844 G=0.43319 A=0.56681
gnomAD - Genomes African Sub 8686 G=0.3956 A=0.6044
gnomAD - Genomes East Asian Sub 1558 G=0.0359 A=0.9641
gnomAD - Genomes Other Sub 1082 G=0.4214 A=0.5786
gnomAD - Genomes American Sub 842 G=0.363 A=0.637
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.421 A=0.579
1000Genomes Global Study-wide 5008 G=0.3229 A=0.6771
1000Genomes African Sub 1322 G=0.3949 A=0.6051
1000Genomes East Asian Sub 1008 G=0.0397 A=0.9603
1000Genomes Europe Sub 1006 G=0.4384 A=0.5616
1000Genomes South Asian Sub 978 G=0.363 A=0.637
1000Genomes American Sub 694 G=0.373 A=0.627
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4504 A=0.5496
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4193 A=0.5807
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4283 A=0.5717
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0212 A=0.9788, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.3234 A=0.6766
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.049 A=0.951
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.338 A=0.662
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.494 A=0.506
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.438 A=0.562
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.541 A=0.459
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.306 A=0.694
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.01 A=0.99
HapMap Global Study-wide 1886 G=0.3388 A=0.6612
HapMap American Sub 770 G=0.318 A=0.682
HapMap African Sub 686 G=0.448 A=0.552
HapMap Asian Sub 254 G=0.028 A=0.972
HapMap Europe Sub 176 G=0.455 A=0.545
Korean Genome Project KOREAN Study-wide 1832 G=0.0229 A=0.9771
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.442 A=0.558
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.075 A=0.925
Northern Sweden ACPOP Study-wide 600 G=0.450 A=0.550
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.556 A=0.444
SGDP_PRJ Global Study-wide 474 G=0.200 A=0.800
PharmGKB Aggregated Global Study-wide 350 G=0.203 A=0.797
PharmGKB Aggregated PA147985740 Sub 350 G=0.203 A=0.797
FINRISK Finnish from FINRISK project Study-wide 304 G=0.438 A=0.562
Qatari Global Study-wide 216 G=0.514 A=0.486
Siberian Global Study-wide 44 G=0.39 A=0.61
The Danish reference pan genome Danish Study-wide 40 G=0.33 A=0.68
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 G= A C T
GRCh38.p12 chr 8 NC_000008.11:g.18400806= NC_000008.11:g.18400806G>A NC_000008.11:g.18400806G>C NC_000008.11:g.18400806G>T
GRCh37.p13 chr 8 NC_000008.10:g.18258316= NC_000008.10:g.18258316G>A NC_000008.10:g.18258316G>C NC_000008.10:g.18258316G>T
NAT2 RefSeqGene NG_012246.1:g.14562= NG_012246.1:g.14562G>A NG_012246.1:g.14562G>C NG_012246.1:g.14562G>T
NAT2 transcript NM_000015.3:c.803= NM_000015.3:c.803G>A NM_000015.3:c.803G>C NM_000015.3:c.803G>T
NAT2 transcript NM_000015.2:c.803= NM_000015.2:c.803G>A NM_000015.2:c.803G>C NM_000015.2:c.803G>T
NAT2 transcript variant X1 XM_017012938.1:c.803= XM_017012938.1:c.803G>A XM_017012938.1:c.803G>C XM_017012938.1:c.803G>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg268= NP_000006.2:p.Arg268Lys NP_000006.2:p.Arg268Thr NP_000006.2:p.Arg268Ile
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg268= XP_016868427.1:p.Arg268Lys XP_016868427.1:p.Arg268Thr XP_016868427.1:p.Arg268Ile
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#.

153 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1233 Sep 19, 2000 (36)
2 LEE ss1508882 Oct 04, 2000 (86)
3 TSC-CSHL ss2323986 Oct 23, 2000 (88)
4 LEE ss4403265 May 29, 2002 (106)
5 SNP500CANCER ss5586793 Mar 31, 2003 (113)
6 SC_JCM ss5655469 Feb 20, 2003 (111)
7 RIKENSNPRC ss6311250 Feb 20, 2003 (111)
8 SSAHASNP ss22662993 Apr 05, 2004 (121)
9 SEQUENOM ss24796685 Sep 20, 2004 (123)
10 MGC_GENOME_DIFF ss28497870 Sep 24, 2004 (126)
11 MGC_GENOME_DIFF ss28512667 Sep 24, 2004 (126)
12 ABI ss44882625 Mar 11, 2006 (126)
13 ILLUMINA ss65725493 Oct 16, 2006 (127)
14 ILLUMINA ss66669271 Dec 02, 2006 (127)
15 EGP_SNPS ss66858970 Dec 02, 2006 (127)
16 ILLUMINA ss66980685 Dec 02, 2006 (127)
17 ILLUMINA ss67153062 Dec 02, 2006 (127)
18 PERLEGEN ss69042400 May 18, 2007 (127)
19 ILLUMINA ss70404689 May 18, 2007 (127)
20 EGP_SNPS ss70456621 May 18, 2007 (127)
21 ILLUMINA ss70554774 May 25, 2008 (130)
22 ILLUMINA ss71091482 May 18, 2007 (127)
23 AFFY ss74810963 Aug 16, 2007 (128)
24 ILLUMINA ss75590894 Dec 06, 2007 (129)
25 AFFY ss76467172 Dec 08, 2007 (130)
26 CGM_KYOTO ss76866282 Dec 06, 2007 (129)
27 SI_EXO ss76883728 Dec 06, 2007 (129)
28 HGSV ss77248065 Dec 06, 2007 (129)
29 KRIBB_YJKIM ss83344498 Dec 15, 2007 (130)
30 PHARMGKB_AB_DME ss84168271 Dec 15, 2007 (130)
31 CORNELL ss86271255 Mar 23, 2008 (129)
32 BCMHGSC_JDW ss93848832 Mar 25, 2008 (129)
33 SHGC ss99307910 Feb 05, 2009 (130)
34 BGI ss105603531 Feb 05, 2009 (130)
35 1000GENOMES ss112880890 Jan 25, 2009 (130)
36 1000GENOMES ss115075143 Jan 25, 2009 (130)
37 ILLUMINA-UK ss115861056 Feb 14, 2009 (130)
38 ILLUMINA ss120036393 Dec 01, 2009 (131)
39 ILLUMINA ss121534681 Dec 01, 2009 (131)
40 OMIM-CURATED-RECORDS ss140405883 Dec 01, 2009 (131)
41 ENSEMBL ss143310648 Dec 01, 2009 (131)
42 ILLUMINA ss153127416 Dec 01, 2009 (131)
43 GMI ss156100879 Dec 01, 2009 (131)
44 ILLUMINA ss159202860 Dec 01, 2009 (131)
45 SEATTLESEQ ss159716517 Dec 01, 2009 (131)
46 COMPLETE_GENOMICS ss162207626 Jul 04, 2010 (132)
47 COMPLETE_GENOMICS ss164094717 Jul 04, 2010 (132)
48 COMPLETE_GENOMICS ss166321100 Jul 04, 2010 (132)
49 ILLUMINA ss170039824 Jul 04, 2010 (132)
50 ILLUMINA ss171840544 Jul 04, 2010 (132)
51 BUSHMAN ss198867410 Jul 04, 2010 (132)
52 1000GENOMES ss223576394 Jul 14, 2010 (132)
53 1000GENOMES ss234345865 Jul 15, 2010 (132)
54 1000GENOMES ss241221835 Jul 15, 2010 (132)
55 OMICIA ss244238724 May 27, 2010 (132)
56 ILLUMINA ss244275240 Jul 04, 2010 (132)
57 OMIM-CURATED-RECORDS ss252841662 Aug 12, 2010 (132)
58 BL ss254157071 May 09, 2011 (134)
59 GMI ss279717738 May 04, 2012 (137)
60 GMI ss285804793 Apr 25, 2013 (138)
61 PJP ss294231048 May 09, 2011 (134)
62 NHLBI-ESP ss342253623 May 09, 2011 (134)
63 ILLUMINA ss410878057 Sep 17, 2011 (135)
64 ILLUMINA ss482929024 May 04, 2012 (137)
65 ILLUMINA ss485580724 May 04, 2012 (137)
66 1000GENOMES ss490960730 May 04, 2012 (137)
67 EXOME_CHIP ss491410771 May 04, 2012 (137)
68 CLINSEQ_SNP ss491921843 May 04, 2012 (137)
69 ILLUMINA ss534825412 Sep 08, 2015 (146)
70 TISHKOFF ss560588645 Apr 25, 2013 (138)
71 SSMP ss655024500 Apr 25, 2013 (138)
72 ILLUMINA ss779493730 Sep 08, 2015 (146)
73 ILLUMINA ss780867835 Sep 08, 2015 (146)
74 ILLUMINA ss781924508 Sep 08, 2015 (146)
75 ILLUMINA ss783552766 Sep 08, 2015 (146)
76 ILLUMINA ss825373963 Jul 19, 2016 (147)
77 ILLUMINA ss832715307 Jul 13, 2019 (153)
78 ILLUMINA ss834963895 Sep 08, 2015 (146)
79 JMKIDD_LAB ss974467367 Aug 21, 2014 (142)
80 EVA-GONL ss985256289 Aug 21, 2014 (142)
81 JMKIDD_LAB ss1067495866 Aug 21, 2014 (142)
82 JMKIDD_LAB ss1075326288 Aug 21, 2014 (142)
83 1000GENOMES ss1328853924 Aug 21, 2014 (142)
84 DDI ss1431436719 Apr 01, 2015 (144)
85 EVA_GENOME_DK ss1582586562 Apr 01, 2015 (144)
86 EVA_FINRISK ss1584057291 Apr 01, 2015 (144)
87 EVA_DECODE ss1594845142 Apr 01, 2015 (144)
88 EVA_UK10K_ALSPAC ss1620100548 Apr 01, 2015 (144)
89 EVA_UK10K_TWINSUK ss1663094581 Apr 01, 2015 (144)
90 EVA_EXAC ss1689107941 Apr 01, 2015 (144)
91 EVA_MGP ss1711194416 Apr 01, 2015 (144)
92 EVA_SVP ss1713019602 Apr 01, 2015 (144)
93 HAMMER_LAB ss1805425820 Sep 08, 2015 (146)
94 WEILL_CORNELL_DGM ss1928545820 Feb 12, 2016 (147)
95 ILLUMINA ss1946231122 Feb 12, 2016 (147)
96 ILLUMINA ss1959092419 Feb 12, 2016 (147)
97 AMU ss1966657101 Feb 12, 2016 (147)
98 GENOMED ss1970925402 Jul 19, 2016 (147)
99 JJLAB ss2024971342 Sep 14, 2016 (149)
100 USC_VALOUEV ss2153192871 Dec 20, 2016 (150)
101 HUMAN_LONGEVITY ss2301164580 Dec 20, 2016 (150)
102 TOPMED ss2470822176 Dec 20, 2016 (150)
103 SYSTEMSBIOZJU ss2626970490 Nov 08, 2017 (151)
104 ILLUMINA ss2634717915 Nov 08, 2017 (151)
105 ILLUMINA ss2634717916 Nov 08, 2017 (151)
106 ILLUMINA ss2634717917 Nov 08, 2017 (151)
107 GRF ss2708953254 Nov 08, 2017 (151)
108 ILLUMINA ss2711131681 Nov 08, 2017 (151)
109 GNOMAD ss2737016796 Nov 08, 2017 (151)
110 GNOMAD ss2748005973 Nov 08, 2017 (151)
111 GNOMAD ss2863932631 Nov 08, 2017 (151)
112 SWEGEN ss3002780531 Nov 08, 2017 (151)
113 ILLUMINA ss3022824464 Nov 08, 2017 (151)
114 BIOINF_KMB_FNS_UNIBA ss3026276051 Nov 08, 2017 (151)
115 CSIRBIOHTS ss3029637981 Nov 08, 2017 (151)
116 CSHL ss3348074288 Nov 08, 2017 (151)
117 TOPMED ss3555514804 Nov 08, 2017 (151)
118 ILLUMINA ss3625946943 Oct 12, 2018 (152)
119 ILLUMINA ss3625946944 Oct 12, 2018 (152)
120 ILLUMINA ss3630009738 Oct 12, 2018 (152)
121 ILLUMINA ss3630009739 Oct 12, 2018 (152)
122 ILLUMINA ss3632618572 Oct 12, 2018 (152)
123 ILLUMINA ss3635161294 Oct 12, 2018 (152)
124 ILLUMINA ss3638747291 Oct 12, 2018 (152)
125 ILLUMINA ss3639376103 Oct 12, 2018 (152)
126 ILLUMINA ss3639716882 Oct 12, 2018 (152)
127 ILLUMINA ss3640868584 Oct 12, 2018 (152)
128 ILLUMINA ss3643679170 Oct 12, 2018 (152)
129 ILLUMINA ss3644964296 Oct 12, 2018 (152)
130 OMUKHERJEE_ADBS ss3646372878 Oct 12, 2018 (152)
131 URBANLAB ss3648864872 Oct 12, 2018 (152)
132 ILLUMINA ss3653365294 Oct 12, 2018 (152)
133 EGCUT_WGS ss3670459168 Jul 13, 2019 (153)
134 EVA_DECODE ss3721526509 Jul 13, 2019 (153)
135 ILLUMINA ss3726518845 Jul 13, 2019 (153)
136 ACPOP ss3735453500 Jul 13, 2019 (153)
137 ILLUMINA ss3744302590 Jul 13, 2019 (153)
138 ILLUMINA ss3745461084 Jul 13, 2019 (153)
139 EVA ss3767698260 Jul 13, 2019 (153)
140 PAGE_CC ss3771427498 Jul 13, 2019 (153)
141 PACBIO ss3786082989 Jul 13, 2019 (153)
142 PACBIO ss3791349757 Jul 13, 2019 (153)
143 PACBIO ss3796230926 Jul 13, 2019 (153)
144 KHV_HUMAN_GENOMES ss3810861620 Jul 13, 2019 (153)
145 EVA ss3824350644 Apr 26, 2020 (154)
146 EVA ss3825736891 Apr 26, 2020 (154)
147 EVA ss3831046607 Apr 26, 2020 (154)
148 EVA ss3839033013 Apr 26, 2020 (154)
149 EVA ss3844490962 Apr 26, 2020 (154)
150 HGDP ss3847906106 Apr 26, 2020 (154)
151 SGDP_PRJ ss3869405019 Apr 26, 2020 (154)
152 KRGDB ss3916829887 Apr 26, 2020 (154)
153 KOGIC ss3963375453 Apr 26, 2020 (154)
154 1000Genomes NC_000008.10 - 18258316 Oct 12, 2018 (152)
155 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18258316 Oct 12, 2018 (152)
156 Genetic variation in the Estonian population NC_000008.10 - 18258316 Oct 12, 2018 (152)
157 ExAC NC_000008.10 - 18258316 Oct 12, 2018 (152)
158 FINRISK NC_000008.10 - 18258316 Apr 26, 2020 (154)
159 The Danish reference pan genome NC_000008.10 - 18258316 Apr 26, 2020 (154)
160 gnomAD - Genomes NC_000008.10 - 18258316 Jul 13, 2019 (153)
161 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184747 (NC_000008.10:18258315:G:G 94325/247584, NC_000008.10:18258315:G:A 153259/247584)
Row 6184748 (NC_000008.10:18258315:G:G 247583/247584, NC_000008.10:18258315:G:T 1/247584)

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

Submission ignored due to conflicting rows:
Row 6184747 (NC_000008.10:18258315:G:G 94325/247584, NC_000008.10:18258315:G:A 153259/247584)
Row 6184748 (NC_000008.10:18258315:G:G 247583/247584, NC_000008.10:18258315:G:T 1/247584)

- Jul 13, 2019 (153)
163 Genome of the Netherlands Release 5 NC_000008.10 - 18258316 Apr 26, 2020 (154)
164 HGDP-CEPH-db Supplement 1 NC_000008.9 - 18302596 Apr 26, 2020 (154)
165 HapMap NC_000008.11 - 18400806 Apr 26, 2020 (154)
166 KOREAN population from KRGDB NC_000008.10 - 18258316 Apr 26, 2020 (154)
167 Korean Genome Project NC_000008.11 - 18400806 Apr 26, 2020 (154)
168 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18258316 Apr 26, 2020 (154)
169 Northern Sweden NC_000008.10 - 18258316 Jul 13, 2019 (153)
170 The PAGE Study NC_000008.11 - 18400806 Jul 13, 2019 (153)
171 PharmGKB Aggregated NC_000008.11 - 18400806 Apr 26, 2020 (154)
172 Qatari NC_000008.10 - 18258316 Apr 26, 2020 (154)
173 SGDP_PRJ NC_000008.10 - 18258316 Apr 26, 2020 (154)
174 Siberian NC_000008.10 - 18258316 Apr 26, 2020 (154)
175 TopMed NC_000008.11 - 18400806 Oct 12, 2018 (152)
176 UK 10K study - Twins NC_000008.10 - 18258316 Oct 12, 2018 (152)
177 A Vietnamese Genetic Variation Database NC_000008.10 - 18258316 Jul 13, 2019 (153)
178 dbGaP Population Frequency Project NC_000008.11 - 18400806 Apr 26, 2020 (154)
179 ClinVar RCV000000760.1 Oct 12, 2018 (152)
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)
rs3181478 Jul 03, 2002 (106)
rs17126586 Oct 08, 2004 (123)
rs17845485 Mar 11, 2006 (126)
rs17858365 Mar 11, 2006 (126)
rs52821724 Sep 21, 2007 (128)
rs56599719 May 25, 2008 (130)
rs58999469 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
583998, ss76467172, ss77248065, ss93848832, ss112880890, ss115075143, ss115861056, ss162207626, ss164094717, ss166321100, ss198867410, ss254157071, ss279717738, ss285804793, ss294231048, ss485580724, ss491921843, ss825373963, ss1594845142, ss1713019602, ss3639376103, ss3639716882, ss3643679170, ss3847906106 NC_000008.9:18302595:G:A NC_000008.11:18400805:G:A (self)
40947106, 22761478, 16197416, 9201301, 53752, 8751500, 111847209, 10170882, 24007281, 310176, 8738365, 10587750, 21421999, 5709225, 22761478, 5074610, ss223576394, ss234345865, ss241221835, ss342253623, ss482929024, ss490960730, ss491410771, ss534825412, ss560588645, ss655024500, ss779493730, ss780867835, ss781924508, ss783552766, ss832715307, ss834963895, ss974467367, ss985256289, ss1067495866, ss1075326288, ss1328853924, ss1431436719, ss1582586562, ss1584057291, ss1620100548, ss1663094581, ss1689107941, ss1711194416, ss1805425820, ss1928545820, ss1946231122, ss1959092419, ss1966657101, ss1970925402, ss2024971342, ss2153192871, ss2470822176, ss2626970490, ss2634717915, ss2634717916, ss2634717917, ss2708953254, ss2711131681, ss2737016796, ss2748005973, ss2863932631, ss3002780531, ss3022824464, ss3029637981, ss3348074288, ss3625946943, ss3625946944, ss3630009738, ss3630009739, ss3632618572, ss3635161294, ss3638747291, ss3640868584, ss3644964296, ss3646372878, ss3653365294, ss3670459168, ss3735453500, ss3744302590, ss3745461084, ss3767698260, ss3786082989, ss3791349757, ss3796230926, ss3824350644, ss3825736891, ss3831046607, ss3839033013, ss3869405019, ss3916829887 NC_000008.10:18258315:G:A NC_000008.11:18400805:G:A (self)
3577451, 19753454, 648967, 12432, 384382927, 339771926, ss140405883, ss244238724, ss252841662, ss2301164580, ss3026276051, ss3555514804, ss3648864872, ss3721526509, ss3726518845, ss3771427498, ss3810861620, ss3844490962, ss3963375453 NC_000008.11:18400805:G:A NC_000008.11:18400805:G:A (self)
ss22662993 NT_030737.8:6069236:G:A NC_000008.11:18400805:G:A (self)
ss76883728 NT_030737.9:6103243:G:A NC_000008.11:18400805:G:A (self)
ss1233, ss1508882, ss2323986, ss4403265, ss5586793, ss5655469, ss6311250, ss24796685, ss28497870, ss28512667, ss44882625, ss65725493, ss66669271, ss66858970, ss66980685, ss67153062, ss69042400, ss70404689, ss70456621, ss70554774, ss71091482, ss74810963, ss75590894, ss76866282, ss83344498, ss84168271, ss86271255, ss99307910, ss105603531, ss120036393, ss121534681, ss143310648, ss153127416, ss156100879, ss159202860, ss159716517, ss170039824, ss171840544, ss244275240, ss410878057 NT_167187.1:6116461:G:A NC_000008.11:18400805:G:A (self)
24007281, ss3916829887 NC_000008.10:18258315:G:C NC_000008.11:18400805:G:C
ss2737016796 NC_000008.10:18258315:G:T NC_000008.11:18400805:G:T (self)
Help

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

65 citations for rs1208
PMID Title Author Year Journal
2068113 Diverse point mutations in the human gene for polymorphic N-acetyltransferase. Vatsis KP et al. 1991 Proceedings of the National Academy of Sciences of the United States of America
6721992 A simple test for acetylator phenotype using caffeine. Grant DM et al. 1984 British journal of clinical pharmacology
8807666 NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans. Cascorbi I et al. 1996 Pharmacogenetics
14724163 Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases. Crabtree MD et al. 2004 Gut
15911586 Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. Hughes AL et al. 2005 Genetics
16112301 NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. García-Closas M et al. 2005 Lancet (London, England)
16416399 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Patin E et al. 2006 American journal of human genetics
16847422 Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma. Morton LM et al. 2006 Pharmacogenetics and genomics
18547414 Genotyping panel for assessing response to cancer chemotherapy. Dai Z et al. 2008 BMC medical genomics
18664443 Unraveling ambiguous NAT2 genotyping data. Agúndez JA et al. 2008 Clinical chemistry
18680467 Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Walraven JM et al. 2008 Current drug metabolism
18773084 Multiple advantageous amino acid variants in the NAT2 gene in human populations. Luca F et al. 2008 PloS one
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH et al. 2009 American journal of epidemiology
19164093 Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. Matimba A et al. 2009 Human genomics
19809881 Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphoma. Kilfoy BA et al. 2010 Cancer causes & control
19822571 Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma. Zhang Y et al. 2009 American journal of epidemiology
20029944 Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. Han X et al. 2010 American journal of hematology
20043821 Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data. Sabbagh A et al. 2009 BMC medical genetics
20131310 Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma. Li Y et al. 2010 American journal of hematology
20436251 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 World review of nutrition and dietetics
20459474 Can we predict top-level sports performance in power vs endurance events? A genetic approach. Buxens A et al. 2011 Scandinavian journal of medicine & science in sports
20739907 A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background. García-Closas M et al. 2011 Pharmacogenetics and genomics
20923563 Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations. Talbot J et al. 2010 BMC genetics
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
21382071 Altered xanthine oxidase and N-acetyltransferase activity in obese children. Chiney MS et al. 2011 British journal of clinical pharmacology
21474949 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 Journal of nutrigenetics and nutrigenomics
21494681 Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: a worldwide population survey. Sabbagh A et al. 2011 PloS one
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
21684175 alcohol, smoking, and caffeine in relation to fecundability, with effect modification by NAT2. Taylor KC et al. 2011 Annals of epidemiology
21709725 No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent. Kidd LC et al. 2011 Biomarkers in cancer
21818772 Kernel machine SNP-set analysis for censored survival outcomes in genome-wide association studies. Lin X et al. 2011 Genetic epidemiology
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
21989592 Impact of interactions of cigarette smoking with NAT2 polymorphisms on rheumatoid arthritis risk in African Americans. Mikuls TR et al. 2012 Arthritis and rheumatism
22092036 Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes. Hein DW et al. 2012 Pharmacogenomics
22162992 Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. Yimer G et al. 2011 PloS one
22301281 Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. Jang JH et al. 2012 Carcinogenesis
22424094 Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. Potts LF et al. 2012 BMC medical genetics
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
23015320 Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. Fu Z et al. 2012 The American journal of clinical nutrition
23226154 Polymorphisms of Phase I and Phase II Enzymes and Breast Cancer Risk. Justenhoven C et al. 2012 Frontiers in genetics
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
24151610 Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase: susceptibility to head and neck cancers. Khlifi R et al. 2013 BioMed research international
24892773 PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2. McDonagh EM et al. 2014 Pharmacogenetics and genomics
24909419 A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? Baietto L et al. 2014 Current drug metabolism
24934312 Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. Khlifi R et al. 2014 Molecular biology reports
24939416 CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients. Gil J et al. 2014 Medical oncology (Northwood, London, England)
25980667 Pharmacogenetics of treatment response in psoriatic arthritis. Jani M et al. 2015 Current rheumatology reports
26683305 Interaction between Red Meat Intake and NAT2 Genotype in Increasing the Risk of Colorectal Cancer in Japanese and African Americans. Wang H et al. 2015 PloS one
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
26858644 Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. Chua EW et al. 2016 Frontiers in pharmacology
27136043 Single nucleotide polymorphism coverage and inference of N-acetyltransferase-2 acetylator phenotypes in wordwide population groups. Suarez-Kurtz G et al. 2016 Pharmacogenetics and genomics
27223070 Differential association for N-acetyltransferase 2 genotype and phenotype with bladder cancer risk in Chinese population. Quan L et al. 2016 Oncotarget
27312935 Genetics of Insulin Resistance and the Metabolic Syndrome. Brown AE et al. 2016 Current cardiology reports
27332812 Hepatotoxicity during Treatment for Tuberculosis in People Living with HIV/AIDS. Araújo-Mariz C et al. 2016 PloS one
27416945 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. Walford GA et al. 2016 Diabetes
27488001 N-acetyltransferase 2 (NAT2) gene polymorphism as a predisposing factor for phenytoin intoxication in tuberculous meningitis or tuberculoma patients having seizures - A pilot study. Adole PS et al. 2016 The Indian journal of medical research
28028995 Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. Choi R et al. 2017 Annals of laboratory medicine
28187106 Association between NAT2 polymorphisms and the risk of schizophrenia in a Northern Chinese Han population. Luan Z et al. 2017 Psychiatric genetics
28803404 Polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes, CYP1A1 xenobiotic metabolism gene, and tobacco are associated with bladder cancer susceptibility in Tunisian population. Feki-Tounsi M et al. 2017 Environmental science and pollution research international
28870161 Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review. Constantinescu SM et al. 2017 BMC nephrology
29303622 Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. Kamble PG et al. 2017 Upsala journal of medical sciences
29681089 Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. Padula AM et al. 2018 American journal of medical genetics. Part A
30452466 Characterization of ADME genes variation in Roma and 20 populations worldwide. Škarić-Jurić T et al. 2018 PloS one
31254350 Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure. Tao J et al. 2019 Prenatal diagnosis
31881062 NAT2 gene polymorphisms and endometriosis risk: A PRISMA-compliant meta-analysis. Wei Z et al. 2019 PloS one
Help

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