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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.

rs1801280

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400344 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.380502 (95254/250338, GnomAD_exome)
C=0.428847 (54877/127964, ALFA Project)
C=0.364090 (45718/125568, TOPMED) (+ 21 more)
C=0.384624 (46561/121056, ExAC)
C=0.28435 (22112/77762, PAGE_STUDY)
C=0.38488 (12032/31262, GnomAD)
C=0.2927 (1466/5008, 1000G)
C=0.4650 (2083/4480, Estonian)
C=0.4388 (1691/3854, ALSPAC)
C=0.4480 (1661/3708, TWINSUK)
C=0.0192 (56/2922, KOREAN)
C=0.0191 (35/1832, Korea1K)
C=0.3571 (405/1134, Daghestan)
C=0.458 (457/998, GoNL)
C=0.064 (39/612, Vietnamese)
C=0.480 (288/600, NorthernSweden)
C=0.442 (236/534, MGP)
C=0.202 (72/356, PharmGKB)
C=0.274 (90/328, HapMap)
C=0.470 (143/304, FINRISK)
T=0.363 (90/248, SGDP_PRJ)
C=0.481 (104/216, Qatari)
T=0.36 (16/44, Siberian)
C=0.42 (17/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
92 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.18400344T>C
GRCh37.p13 chr 8 NC_000008.10:g.18257854T>C
NAT2 RefSeqGene NG_012246.1:g.14100T>C
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.341T>C I [ATT] > T [ACT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Ile114Thr I (Ile) > T (Thr) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.341T>C I [ATT] > T [ACT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Ile114Thr I (Ile) > T (Thr) 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: C (allele ID: 15762 )
ClinVar Accession Disease Names Clinical Significance
RCV000000759.1 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 204294 T=0.574613 A=0.000000, C=0.425387
European Sub 174196 T=0.558532 A=0.000000, C=0.441468
African Sub 7184 T=0.7270 A=0.0000, C=0.2730
African Others Sub 274 T=0.785 A=0.000, C=0.215
African American Sub 6910 T=0.7247 A=0.0000, C=0.2753
Asian Sub 460 T=0.976 A=0.000, C=0.024
East Asian Sub 324 T=0.985 A=0.000, C=0.015
Other Asian Sub 136 T=0.956 A=0.000, C=0.044
Latin American 1 Sub 1026 T=0.6023 A=0.0000, C=0.3977
Latin American 2 Sub 6248 T=0.7053 A=0.0000, C=0.2947
South Asian Sub 4858 T=0.6610 A=0.0000, C=0.3390
Other Sub 10322 T=0.59950 A=0.00000, C=0.40050


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
gnomAD - Exomes Global Study-wide 250338 T=0.619498 C=0.380502
gnomAD - Exomes European Sub 134774 T=0.543948 C=0.456052
gnomAD - Exomes Asian Sub 48876 T=0.76938 C=0.23062
gnomAD - Exomes American Sub 34410 T=0.69285 C=0.30715
gnomAD - Exomes African Sub 16236 T=0.69629 C=0.30371
gnomAD - Exomes Ashkenazi Jewish Sub 9950 T=0.5494 C=0.4506
gnomAD - Exomes Other Sub 6092 T=0.5839 C=0.4161
ALFA Total Global 127964 T=0.571153 C=0.428847
ALFA European Sub 106846 T=0.552646 C=0.447354
ALFA Latin American 2 Sub 5314 T=0.6951 C=0.3049
ALFA African Sub 5196 T=0.6722 C=0.3278
ALFA Other Sub 4916 T=0.6176 C=0.3824
ALFA South Asian Sub 4802 T=0.6576 C=0.3424
ALFA Latin American 1 Sub 544 T=0.592 C=0.408
ALFA Asian Sub 346 T=0.971 C=0.029
TopMed Global Study-wide 125568 T=0.635910 C=0.364090
ExAC Global Study-wide 121056 T=0.615376 C=0.384624
ExAC Europe Sub 73220 T=0.54314 C=0.45686
ExAC Asian Sub 25002 T=0.75662 C=0.24338
ExAC American Sub 11534 T=0.69317 C=0.30683
ExAC African Sub 10394 T=0.70185 C=0.29815
ExAC Other Sub 906 T=0.573 C=0.427
The PAGE Study Global Study-wide 77762 T=0.71565 C=0.28435
The PAGE Study AfricanAmerican Sub 31998 T=0.69761 C=0.30239
The PAGE Study Mexican Sub 10708 T=0.68678 C=0.31322
The PAGE Study Asian Sub 8304 T=0.9774 C=0.0226
The PAGE Study PuertoRican Sub 7804 T=0.6125 C=0.3875
The PAGE Study NativeHawaiian Sub 4520 T=0.8673 C=0.1327
The PAGE Study Cuban Sub 4192 T=0.5761 C=0.4239
The PAGE Study Dominican Sub 3756 T=0.6241 C=0.3759
The PAGE Study CentralAmerican Sub 2432 T=0.7052 C=0.2948
The PAGE Study SouthAmerican Sub 1954 T=0.6940 C=0.3060
The PAGE Study NativeAmerican Sub 1248 T=0.6138 C=0.3862
The PAGE Study SouthAsian Sub 846 T=0.664 C=0.336
gnomAD - Genomes Global Study-wide 31262 T=0.61512 C=0.38488
gnomAD - Genomes European Sub 18826 T=0.54765 C=0.45235
gnomAD - Genomes African Sub 8678 T=0.7021 C=0.2979
gnomAD - Genomes East Asian Sub 1546 T=0.9638 C=0.0362
gnomAD - Genomes Other Sub 1082 T=0.5721 C=0.4279
gnomAD - Genomes American Sub 842 T=0.658 C=0.342
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.569 C=0.431
1000Genomes Global Study-wide 5008 T=0.7073 C=0.2927
1000Genomes African Sub 1322 T=0.7080 C=0.2920
1000Genomes East Asian Sub 1008 T=0.9623 C=0.0377
1000Genomes Europe Sub 1006 T=0.5507 C=0.4493
1000Genomes South Asian Sub 978 T=0.653 C=0.347
1000Genomes American Sub 694 T=0.638 C=0.362
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5350 C=0.4650
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5612 C=0.4388
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5520 C=0.4480
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9808 C=0.0192
Korean Genome Project KOREAN Study-wide 1832 T=0.9809 C=0.0191
Genome-wide autozygosity in Daghestan Global Study-wide 1134 T=0.6429 C=0.3571
Genome-wide autozygosity in Daghestan Daghestan Sub 626 T=0.634 C=0.366
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.688 C=0.312
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.713 C=0.287
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.509 C=0.491
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.71 C=0.29
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.58 C=0.42
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.542 C=0.458
A Vietnamese Genetic Variation Database Global Study-wide 612 T=0.936 C=0.064
Northern Sweden ACPOP Study-wide 600 T=0.520 C=0.480
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.558 C=0.442
PharmGKB Aggregated Global Study-wide 356 T=0.798 C=0.202
PharmGKB Aggregated PA147986268 Sub 356 T=0.798 C=0.202
HapMap Global Study-wide 328 T=0.726 C=0.274
HapMap African Sub 120 T=0.717 C=0.283
HapMap American Sub 120 T=0.558 C=0.442
HapMap Asian Sub 88 T=0.97 C=0.03
FINRISK Finnish from FINRISK project Study-wide 304 T=0.530 C=0.470
SGDP_PRJ Global Study-wide 248 T=0.363 C=0.637
Qatari Global Study-wide 216 T=0.519 C=0.481
Siberian Global Study-wide 44 T=0.36 C=0.64
The Danish reference pan genome Danish Study-wide 40 T=0.57 C=0.42
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 T= C
GRCh38.p12 chr 8 NC_000008.11:g.18400344= NC_000008.11:g.18400344T>C
GRCh37.p13 chr 8 NC_000008.10:g.18257854= NC_000008.10:g.18257854T>C
NAT2 RefSeqGene NG_012246.1:g.14100= NG_012246.1:g.14100T>C
NAT2 transcript NM_000015.3:c.341= NM_000015.3:c.341T>C
NAT2 transcript NM_000015.2:c.341= NM_000015.2:c.341T>C
NAT2 transcript variant X1 XM_017012938.1:c.341= XM_017012938.1:c.341T>C
arylamine N-acetyltransferase 2 NP_000006.2:p.Ile114= NP_000006.2:p.Ile114Thr
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Ile114= XP_016868427.1:p.Ile114Thr
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#.

128 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2421519 Nov 14, 2000 (89)
2 SNP500CANCER ss5586798 Mar 31, 2003 (113)
3 RIKENSNPRC ss6311247 Feb 20, 2003 (111)
4 PERLEGEN ss23737719 Sep 20, 2004 (123)
5 SEQUENOM ss24796683 Sep 20, 2004 (123)
6 ABI ss43172944 Mar 14, 2006 (126)
7 EGP_SNPS ss66858968 Dec 01, 2006 (127)
8 PERLEGEN ss69042397 May 17, 2007 (127)
9 EGP_SNPS ss70456614 May 17, 2007 (127)
10 CGM_KYOTO ss76869170 Dec 07, 2007 (129)
11 SI_EXO ss76888483 Dec 07, 2007 (129)
12 HGSV ss78455885 Dec 07, 2007 (129)
13 HGSV ss80201180 Dec 14, 2007 (130)
14 PHARMGKB_AB_DME ss84168274 Dec 14, 2007 (130)
15 CORNELL ss86238192 Mar 23, 2008 (129)
16 HUMANGENOME_JCVI ss98055194 Feb 03, 2009 (130)
17 SHGC ss99307906 Feb 03, 2009 (130)
18 1000GENOMES ss112880879 Jan 25, 2009 (130)
19 ILLUMINA-UK ss115861053 Feb 14, 2009 (130)
20 ILLUMINA ss120036484 Dec 01, 2009 (131)
21 OMIM-CURATED-RECORDS ss140403749 Dec 01, 2009 (131)
22 ILLUMINA ss153736730 Dec 01, 2009 (131)
23 ILLUMINA ss159329810 Dec 01, 2009 (131)
24 SEATTLESEQ ss159716513 Dec 01, 2009 (131)
25 ILLUMINA ss160463024 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss166321077 Jul 04, 2010 (132)
27 ILLUMINA ss172925493 Jul 04, 2010 (132)
28 BUSHMAN ss198867402 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss206530835 Jul 04, 2010 (132)
30 1000GENOMES ss210478285 Jul 14, 2010 (132)
31 1000GENOMES ss223576389 Jul 14, 2010 (132)
32 1000GENOMES ss234345862 Jul 15, 2010 (132)
33 OMICIA ss244238723 May 27, 2010 (132)
34 ILLUMINA ss244285128 Jul 04, 2010 (132)
35 OMIM-CURATED-RECORDS ss252841661 Aug 12, 2010 (132)
36 BL ss254157061 May 09, 2011 (134)
37 GMI ss279717735 May 04, 2012 (137)
38 GMI ss285804791 Apr 25, 2013 (138)
39 PJP ss294231045 May 09, 2011 (134)
40 NHLBI-ESP ss342253602 May 09, 2011 (134)
41 ILLUMINA ss410878052 Sep 17, 2011 (135)
42 ILLUMINA ss480300993 May 04, 2012 (137)
43 ILLUMINA ss480312107 May 04, 2012 (137)
44 ILLUMINA ss481067891 Sep 08, 2015 (146)
45 ILLUMINA ss484948309 May 04, 2012 (137)
46 1000GENOMES ss490960718 May 04, 2012 (137)
47 EXOME_CHIP ss491410757 May 04, 2012 (137)
48 CLINSEQ_SNP ss491921837 May 04, 2012 (137)
49 ILLUMINA ss536992456 Sep 08, 2015 (146)
50 TISHKOFF ss560588640 Apr 25, 2013 (138)
51 SSMP ss655024497 Apr 25, 2013 (138)
52 ILLUMINA ss778467829 Sep 08, 2015 (146)
53 ILLUMINA ss782920462 Sep 08, 2015 (146)
54 ILLUMINA ss783883488 Sep 08, 2015 (146)
55 ILLUMINA ss832175589 Sep 08, 2015 (146)
56 ILLUMINA ss832841819 Jul 13, 2019 (153)
57 ILLUMINA ss833923588 Sep 08, 2015 (146)
58 JMKIDD_LAB ss974467364 Aug 21, 2014 (142)
59 EVA-GONL ss985256281 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1067495862 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1075326284 Aug 21, 2014 (142)
62 1000GENOMES ss1328853896 Aug 21, 2014 (142)
63 HAMMER_LAB ss1397519433 Sep 08, 2015 (146)
64 DDI ss1431436716 Apr 01, 2015 (144)
65 EVA_GENOME_DK ss1582586558 Apr 01, 2015 (144)
66 EVA_FINRISK ss1584057287 Apr 01, 2015 (144)
67 EVA_DECODE ss1594845136 Apr 01, 2015 (144)
68 EVA_UK10K_ALSPAC ss1620100536 Apr 01, 2015 (144)
69 EVA_UK10K_TWINSUK ss1663094569 Apr 01, 2015 (144)
70 EVA_EXAC ss1689107837 Apr 01, 2015 (144)
71 EVA_MGP ss1711194412 Apr 01, 2015 (144)
72 ILLUMINA ss1752722183 Sep 08, 2015 (146)
73 WEILL_CORNELL_DGM ss1928545814 Feb 12, 2016 (147)
74 ILLUMINA ss1959092400 Feb 12, 2016 (147)
75 GENOMED ss1970925399 Jul 19, 2016 (147)
76 JJLAB ss2024971337 Sep 14, 2016 (149)
77 ILLUMINA ss2094832905 Dec 20, 2016 (150)
78 ILLUMINA ss2095209083 Dec 20, 2016 (150)
79 USC_VALOUEV ss2153192868 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2301164541 Dec 20, 2016 (150)
81 TOPMED ss2470822136 Dec 20, 2016 (150)
82 ILLUMINA ss2634717901 Nov 08, 2017 (151)
83 ILLUMINA ss2634717902 Nov 08, 2017 (151)
84 GRF ss2708953251 Nov 08, 2017 (151)
85 ILLUMINA ss2711131668 Nov 08, 2017 (151)
86 GNOMAD ss2737016660 Nov 08, 2017 (151)
87 GNOMAD ss2748005926 Nov 08, 2017 (151)
88 GNOMAD ss2863932584 Nov 08, 2017 (151)
89 AFFY ss2985432611 Nov 08, 2017 (151)
90 AFFY ss2986074656 Nov 08, 2017 (151)
91 SWEGEN ss3002780525 Nov 08, 2017 (151)
92 ILLUMINA ss3022824450 Nov 08, 2017 (151)
93 BIOINF_KMB_FNS_UNIBA ss3026276048 Nov 08, 2017 (151)
94 CSIRBIOHTS ss3029637976 Nov 08, 2017 (151)
95 CSHL ss3348074285 Nov 08, 2017 (151)
96 TOPMED ss3555514716 Nov 08, 2017 (151)
97 ILLUMINA ss3625946938 Oct 12, 2018 (152)
98 ILLUMINA ss3630009718 Oct 12, 2018 (152)
99 ILLUMINA ss3632618567 Oct 12, 2018 (152)
100 ILLUMINA ss3633492980 Oct 12, 2018 (152)
101 ILLUMINA ss3634219383 Oct 12, 2018 (152)
102 ILLUMINA ss3635161279 Oct 12, 2018 (152)
103 ILLUMINA ss3635898369 Oct 12, 2018 (152)
104 ILLUMINA ss3636898279 Oct 12, 2018 (152)
105 ILLUMINA ss3637651509 Oct 12, 2018 (152)
106 ILLUMINA ss3638747287 Oct 12, 2018 (152)
107 ILLUMINA ss3640868569 Oct 12, 2018 (152)
108 OMUKHERJEE_ADBS ss3646372875 Oct 12, 2018 (152)
109 URBANLAB ss3648864870 Oct 12, 2018 (152)
110 ILLUMINA ss3653365280 Oct 12, 2018 (152)
111 ILLUMINA ss3654194401 Oct 12, 2018 (152)
112 EGCUT_WGS ss3670459159 Jul 13, 2019 (153)
113 EVA_DECODE ss3721526501 Jul 13, 2019 (153)
114 ILLUMINA ss3726518832 Jul 13, 2019 (153)
115 ACPOP ss3735453496 Jul 13, 2019 (153)
116 ILLUMINA ss3745461069 Jul 13, 2019 (153)
117 EVA ss3767698253 Jul 13, 2019 (153)
118 PAGE_CC ss3771427485 Jul 13, 2019 (153)
119 ILLUMINA ss3772953669 Jul 13, 2019 (153)
120 KHV_HUMAN_GENOMES ss3810861613 Jul 13, 2019 (153)
121 EVA ss3824350615 Apr 26, 2020 (154)
122 EVA ss3825736887 Apr 26, 2020 (154)
123 EVA ss3831046604 Apr 26, 2020 (154)
124 EVA ss3839033010 Apr 26, 2020 (154)
125 EVA ss3844490959 Apr 26, 2020 (154)
126 SGDP_PRJ ss3869405008 Apr 26, 2020 (154)
127 KRGDB ss3916829877 Apr 26, 2020 (154)
128 KOGIC ss3963375440 Apr 26, 2020 (154)
129 1000Genomes NC_000008.10 - 18257854 Oct 12, 2018 (152)
130 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18257854 Oct 12, 2018 (152)
131 Genome-wide autozygosity in Daghestan NC_000008.9 - 18302134 Apr 26, 2020 (154)
132 Genetic variation in the Estonian population NC_000008.10 - 18257854 Oct 12, 2018 (152)
133 ExAC NC_000008.10 - 18257854 Oct 12, 2018 (152)
134 FINRISK NC_000008.10 - 18257854 Apr 26, 2020 (154)
135 The Danish reference pan genome NC_000008.10 - 18257854 Apr 26, 2020 (154)
136 gnomAD - Genomes NC_000008.10 - 18257854 Jul 13, 2019 (153)
137 gnomAD - Exomes NC_000008.10 - 18257854 Jul 13, 2019 (153)
138 Genome of the Netherlands Release 5 NC_000008.10 - 18257854 Apr 26, 2020 (154)
139 HapMap NC_000008.11 - 18400344 Apr 26, 2020 (154)
140 KOREAN population from KRGDB NC_000008.10 - 18257854 Apr 26, 2020 (154)
141 Korean Genome Project NC_000008.11 - 18400344 Apr 26, 2020 (154)
142 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18257854 Apr 26, 2020 (154)
143 Northern Sweden NC_000008.10 - 18257854 Jul 13, 2019 (153)
144 The PAGE Study NC_000008.11 - 18400344 Jul 13, 2019 (153)
145 PharmGKB Aggregated NC_000008.11 - 18400344 Apr 26, 2020 (154)
146 Qatari NC_000008.10 - 18257854 Apr 26, 2020 (154)
147 SGDP_PRJ NC_000008.10 - 18257854 Apr 26, 2020 (154)
148 Siberian NC_000008.10 - 18257854 Apr 26, 2020 (154)
149 TopMed NC_000008.11 - 18400344 Oct 12, 2018 (152)
150 UK 10K study - Twins NC_000008.10 - 18257854 Oct 12, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000008.10 - 18257854 Jul 13, 2019 (153)
152 dbGaP Population Frequency Project NC_000008.11 - 18400344 Apr 26, 2020 (154)
153 ClinVar RCV000000759.1 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)
rs4134724 Nov 14, 2002 (109)
rs56935242 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493337, ss78455885, ss80201180, ss112880879, ss115861053, ss166321077, ss198867402, ss206530835, ss210478285, ss254157061, ss279717735, ss285804791, ss294231045, ss410878052, ss480300993, ss491921837, ss1397519433, ss1594845136 NC_000008.9:18302133:T:C NC_000008.11:18400343:T:C (self)
40947078, 22761466, 16197407, 9201194, 53748, 8751496, 111847163, 6184596, 10170874, 24007271, 310172, 8738361, 10587744, 21421988, 5709222, 22761466, 5074605, ss223576389, ss234345862, ss342253602, ss480312107, ss481067891, ss484948309, ss490960718, ss491410757, ss536992456, ss560588640, ss655024497, ss778467829, ss782920462, ss783883488, ss832175589, ss832841819, ss833923588, ss974467364, ss985256281, ss1067495862, ss1075326284, ss1328853896, ss1431436716, ss1582586558, ss1584057287, ss1620100536, ss1663094569, ss1689107837, ss1711194412, ss1752722183, ss1928545814, ss1959092400, ss1970925399, ss2024971337, ss2094832905, ss2095209083, ss2153192868, ss2470822136, ss2634717901, ss2634717902, ss2708953251, ss2711131668, ss2737016660, ss2748005926, ss2863932584, ss2985432611, ss2986074656, ss3002780525, ss3022824450, ss3029637976, ss3348074285, ss3625946938, ss3630009718, ss3632618567, ss3633492980, ss3634219383, ss3635161279, ss3635898369, ss3636898279, ss3637651509, ss3638747287, ss3640868569, ss3646372875, ss3653365280, ss3654194401, ss3670459159, ss3735453496, ss3745461069, ss3767698253, ss3772953669, ss3824350615, ss3825736887, ss3831046604, ss3839033010, ss3869405008, ss3916829877 NC_000008.10:18257853:T:C NC_000008.11:18400343:T:C (self)
RCV000000759.1, 3577445, 19753441, 648954, 12431, 384382853, 828864410, ss140403749, ss244238723, ss252841661, ss2301164541, ss3026276048, ss3555514716, ss3648864870, ss3721526501, ss3726518832, ss3771427485, ss3810861613, ss3844490959, ss3963375440 NC_000008.11:18400343:T:C NC_000008.11:18400343:T:C (self)
ss76888483 NT_030737.9:6102781:T:C NC_000008.11:18400343:T:C (self)
ss2421519, ss5586798, ss6311247, ss23737719, ss24796683, ss43172944, ss66858968, ss69042397, ss70456614, ss76869170, ss84168274, ss86238192, ss98055194, ss99307906, ss120036484, ss153736730, ss159329810, ss159716513, ss160463024, ss172925493, ss244285128 NT_167187.1:6115999:T:C NC_000008.11:18400343:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

92 citations for rs1801280
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
10667461 Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Hein DW et al. 2000 Cancer epidemiology, biomarkers & prevention
12351146 Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Hein DW et al. 2002 Mutation research
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
18043717 Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia. Magalon H et al. 2008 European journal of human genetics
18268115 Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk. Shin A et al. 2008 Cancer epidemiology, biomarkers & prevention
18298806 Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Rosenberger A et al. 2008 BMC cancer
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
18768514 Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer. Gates MA et al. 2008 Cancer epidemiology, biomarkers & prevention
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
18990750 Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. Cotterchio M et al. 2008 Cancer epidemiology, biomarkers & prevention
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
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
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
20304699 Polymorphisms of caffeine metabolism and estrogen receptor genes and risk of Parkinson's disease in men and women. Palacios N et al. 2010 Parkinsonism & related disorders
20436251 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 World review of nutrition and dietetics
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
20937634 Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk. Cleary SP et al. 2010 American journal of epidemiology
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
21254355 Smoking, the xenobiotic pathway, and clubfoot. Sommer A et al. 2011 Birth defects research. Part A, Clinical and molecular teratology
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
21618522 Carcinogen metabolism genes, red meat and poultry intake, and colorectal cancer risk. Wang J et al. 2012 International journal of cancer
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
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
21750470 Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. Selinski S et al. 2011 Pharmacogenetics and genomics
21878835 Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity. Wang D et al. 2011 Pharmacogenetics and genomics
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
22074863 N-acetyltransferase 2 polymorphisms, tobacco smoking, and breast cancer risk in the breast and prostate cancer cohort consortium. Cox DG et al. 2011 American journal of epidemiology
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
22200898 Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE). Bonaventure A et al. 2012 Cancer causes & control
22294980 Trends in qualifying biomarkers in drug safety. Consensus of the 2011 meeting of the spanish society of clinical pharmacology. Agúndez JA et al. 2012 Frontiers in pharmacology
22301281 Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. Jang JH et al. 2012 Carcinogenesis
22336957 Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs. Suarez-Kurtz G et al. 2012 Pharmacogenetics and genomics
22414877 Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples. He YJ et al. 2012 Pharmacogenetics and genomics
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
22610071 Polymorphisms in carcinogen metabolism enzymes, fish intake, and risk of prostate cancer. Catsburg C et al. 2012 Carcinogenesis
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
22655262 Exposure to Polycyclic Aromatic Hydrocarbons Among Never Smokers in Golestan Province, Iran, an Area of High Incidence of Esophageal Cancer - a Cross-Sectional Study with Repeated Measurement of Urinary 1-OHPG in Two Seasons. Islami F et al. 2012 Frontiers in oncology
22724046 Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. Eichholzer M et al. 2012 International journal of molecular epidemiology and genetics
22970273 The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype. Ruiz JD et al. 2012 PloS one
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
23175176 Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype. Etemadi A et al. 2013 International journal of cancer
23226154 Polymorphisms of Phase I and Phase II Enzymes and Breast Cancer Risk. Justenhoven C et al. 2012 Frontiers in genetics
23284801 Distinct SNP combinations confer susceptibility to urinary bladder cancer in smokers and non-smokers. Schwender H et al. 2012 PloS one
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
23404349 Childhood acute leukemia, maternal beverage intake during pregnancy, and metabolic polymorphisms. Bonaventure A et al. 2013 Cancer causes & control
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
24934506 GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence. Eny KM et al. 2014 Diabetologia
25231222 Meat-derived carcinogens, genetic susceptibility and colorectal adenoma risk. Ho V et al. 2014 Genes & nutrition
25719551 The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. Gross-Davis CA et al. 2015 International journal of environmental research and public health
25980667 Pharmacogenetics of treatment response in psoriatic arthritis. Jani M et al. 2015 Current rheumatology reports
26445549 Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population. Huang Z et al. 2015 OncoTargets and therapy
26620671 Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa. Podgorná E et al. 2015 BMC evolutionary biology
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
26700672 Active cigarette smoking and the risk of breast cancer at the level of N-acetyltransferase 2 (NAT2) gene polymorphisms. Kasajova P et al. 2016 Tumour biology
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
26803317 Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight. Marceau K et al. 2016 Behavior 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
27110117 Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. Medhasi S et al. 2016 Neuropsychiatric disease and treatment
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
27332812 Hepatotoxicity during Treatment for Tuberculosis in People Living with HIV/AIDS. Araújo-Mariz C et al. 2016 PloS one
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
27495060 rs1495741 as a tag single nucleotide polymorphism of N-acetyltransferase 2 acetylator phenotype associates bladder cancer risk and interacts with smoking: A systematic review and meta-analysis. Ma C et al. 2016 Medicine
27571936 Circulating intestine-derived exosomal miR-328 in plasma, a possible biomarker for estimating BCRP function in the human intestines. Gotanda K et al. 2016 Scientific reports
27636550 A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. Mizzi C et al. 2016 PloS one
27655273 Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans. Aarts JM et al. 2016 PloS one
27883295 Identification of novel SNPs associated with risk and prognosis in patients with castration-resistant prostate cancer. Sissung TM et al. 2016 Pharmacogenomics
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
28817838 Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228). Lévi F et al. 2017 British journal of cancer
28870161 Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review. Constantinescu SM et al. 2017 BMC nephrology
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
30337837 Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. Wen J et al. 2018 Cancer cell international
30409984 Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. John SE et al. 2018 Scientific reports
30452466 Characterization of ADME genes variation in Roma and 20 populations worldwide. Škarić-Jurić T et al. 2018 PloS one
30531039 Polymorphisms of NAT2, CYP2E1, GST, and HLA related to drug-induced liver injury in indonesian tuberculosis patients. Perwitasari DA et al. 2018 International journal of mycobacteriology
30896661 Association between NAT2 polymorphisms and acute leukemia risk: A meta-analysis. Zhu X et al. 2019 Medicine
31428123 Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations. Simba H et al. 2019 Frontiers in genetics
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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
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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