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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.

rs1041983

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400285 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.341977 (85599/250306, GnomAD_exome)
T=0.325830 (41426/127140, ALFA Project)
T=0.363604 (45657/125568, TOPMED) (+ 18 more)
T=0.344890 (41762/121088, ExAC)
T=0.35625 (11150/31298, GnomAD)
T=0.35737 (4648/13006, GO-ESP)
T=0.3974 (1990/5008, 1000G)
T=0.3125 (1400/4480, Estonian)
T=0.3228 (1244/3854, ALSPAC)
T=0.3150 (1168/3708, TWINSUK)
T=0.3287 (963/2930, KOREAN)
T=0.3902 (736/1886, HapMap)
T=0.303 (302/998, GoNL)
T=0.493 (298/604, Vietnamese)
T=0.288 (173/600, NorthernSweden)
T=0.307 (164/534, MGP)
C=0.370 (122/330, SGDP_PRJ)
T=0.283 (86/304, FINRISK)
T=0.301 (65/216, Qatari)
T=0.38 (15/40, GENOME_DK)
C=0.46 (13/28, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Synonymous Variant
Publications
72 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.18400285C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257795C>T
NAT2 RefSeqGene NG_012246.1:g.14041C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.282C>T Y [TAC] > Y [TAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Tyr94= Y (Tyr) > Y (Tyr) Synonymous Variant
NAT2 transcript variant X1 XM_017012938.1:c.282C>T Y [TAC] > Y [TAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Tyr94= Y (Tyr) > Y (Tyr) Synonymous 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: T (allele ID: 362499 )
ClinVar Accession Disease Names Clinical Significance
RCV000417176.1 ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR 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 307984 C=0.674405 T=0.325595
European Sub 271022 C=0.681779 T=0.318221
African Sub 8946 C=0.5589 T=0.4411
African Others Sub 324 C=0.509 T=0.491
African American Sub 8622 C=0.5608 T=0.4392
Asian Sub 3962 C=0.6239 T=0.3761
East Asian Sub 3186 C=0.6365 T=0.3635
Other Asian Sub 776 C=0.572 T=0.428
Latin American 1 Sub 1428 C=0.6555 T=0.3445
Latin American 2 Sub 3176 C=0.6855 T=0.3145
South Asian Sub 5218 C=0.5749 T=0.4251
Other Sub 14232 C=0.65655 T=0.34345


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 250306 C=0.658023 T=0.341977
gnomAD - Exomes European Sub 134768 C=0.692946 T=0.307054
gnomAD - Exomes Asian Sub 48810 C=0.57535 T=0.42465
gnomAD - Exomes American Sub 34424 C=0.69565 T=0.30435
gnomAD - Exomes African Sub 16238 C=0.55099 T=0.44901
gnomAD - Exomes Ashkenazi Jewish Sub 9984 C=0.6279 T=0.3721
gnomAD - Exomes Other Sub 6082 C=0.6698 T=0.3302
ALFA Total Global 127140 C=0.674170 T=0.325830
ALFA European Sub 111532 C=0.683481 T=0.316519
ALFA South Asian Sub 4894 C=0.5766 T=0.4234
ALFA Other Sub 4638 C=0.6412 T=0.3588
ALFA African Sub 3884 C=0.5749 T=0.4251
ALFA Latin American 2 Sub 1372 C=0.6924 T=0.3076
ALFA Latin American 1 Sub 502 C=0.645 T=0.355
ALFA Asian Sub 318 C=0.569 T=0.431
TopMed Global Study-wide 125568 C=0.636396 T=0.363604
ExAC Global Study-wide 121088 C=0.655110 T=0.344890
ExAC Europe Sub 73224 C=0.68934 T=0.31066
ExAC Asian Sub 25030 C=0.57767 T=0.42233
ExAC American Sub 11532 C=0.70335 T=0.29665
ExAC African Sub 10398 C=0.54530 T=0.45470
ExAC Other Sub 904 C=0.675 T=0.325
gnomAD - Genomes Global Study-wide 31298 C=0.64375 T=0.35625
gnomAD - Genomes European Sub 18856 C=0.69050 T=0.30950
gnomAD - Genomes African Sub 8678 C=0.5444 T=0.4556
gnomAD - Genomes East Asian Sub 1548 C=0.5743 T=0.4257
gnomAD - Genomes Other Sub 1084 C=0.6827 T=0.3173
gnomAD - Genomes American Sub 844 C=0.710 T=0.290
gnomAD - Genomes Ashkenazi Jewish Sub 288 C=0.611 T=0.389
GO Exome Sequencing Project Global Study-wide 13006 C=0.64263 T=0.35737
GO Exome Sequencing Project European American Sub 8600 C=0.6864 T=0.3136
GO Exome Sequencing Project African American Sub 4406 C=0.5572 T=0.4428
1000Genomes Global Study-wide 5008 C=0.6026 T=0.3974
1000Genomes African Sub 1322 C=0.5318 T=0.4682
1000Genomes East Asian Sub 1008 C=0.5605 T=0.4395
1000Genomes Europe Sub 1006 C=0.6948 T=0.3052
1000Genomes South Asian Sub 978 C=0.572 T=0.428
1000Genomes American Sub 694 C=0.709 T=0.291
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6875 T=0.3125
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6772 T=0.3228
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6850 T=0.3150
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6713 T=0.3287
HapMap Global Study-wide 1886 C=0.6098 T=0.3902
HapMap American Sub 766 C=0.637 T=0.363
HapMap African Sub 692 C=0.545 T=0.455
HapMap Asian Sub 252 C=0.643 T=0.357
HapMap Europe Sub 176 C=0.699 T=0.301
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.697 T=0.303
A Vietnamese Genetic Variation Database Global Study-wide 604 C=0.507 T=0.493
Northern Sweden ACPOP Study-wide 600 C=0.712 T=0.288
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.693 T=0.307
SGDP_PRJ Global Study-wide 330 C=0.370 T=0.630
FINRISK Finnish from FINRISK project Study-wide 304 C=0.717 T=0.283
Qatari Global Study-wide 216 C=0.699 T=0.301
The Danish reference pan genome Danish Study-wide 40 C=0.62 T=0.38
Siberian Global Study-wide 28 C=0.46 T=0.54
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= T
GRCh38.p12 chr 8 NC_000008.11:g.18400285= NC_000008.11:g.18400285C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257795= NC_000008.10:g.18257795C>T
NAT2 RefSeqGene NG_012246.1:g.14041= NG_012246.1:g.14041C>T
NAT2 transcript NM_000015.3:c.282= NM_000015.3:c.282C>T
NAT2 transcript NM_000015.2:c.282= NM_000015.2:c.282C>T
NAT2 transcript variant X1 XM_017012938.1:c.282= XM_017012938.1:c.282C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Tyr94= NP_000006.2:p.Tyr94=
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Tyr94= XP_016868427.1:p.Tyr94=
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#.

125 SubSNP, 21 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 LEE ss1508852 Oct 05, 2000 (86)
2 HGBASE ss2420889 Nov 14, 2000 (89)
3 SNP500CANCER ss5586797 Jul 02, 2003 (116)
4 RIKENSNPRC ss6311208 Feb 20, 2003 (111)
5 MGC_GENOME_DIFF ss28497869 Sep 24, 2004 (126)
6 MGC_GENOME_DIFF ss28512666 Sep 24, 2004 (126)
7 SI_EXO ss52067226 Oct 14, 2006 (127)
8 ILLUMINA ss65732322 Oct 14, 2006 (127)
9 EGP_SNPS ss66858967 Nov 29, 2006 (127)
10 EGP_SNPS ss70456613 May 16, 2007 (127)
11 ILLUMINA ss74980700 Dec 05, 2007 (129)
12 CGM_KYOTO ss76874089 Dec 05, 2007 (129)
13 HGSV ss83381656 Dec 15, 2007 (130)
14 CORNELL ss86272062 Mar 23, 2008 (129)
15 BCMHGSC_JDW ss93848828 Mar 25, 2008 (129)
16 SHGC ss99307905 Feb 05, 2009 (130)
17 BGI ss105603530 Feb 05, 2009 (130)
18 1000GENOMES ss112880873 Jan 25, 2009 (130)
19 1000GENOMES ss115075069 Jan 25, 2009 (130)
20 ILLUMINA-UK ss115861052 Feb 14, 2009 (130)
21 KRIBB_YJKIM ss119379386 Dec 01, 2009 (131)
22 ILLUMINA ss152722299 Dec 01, 2009 (131)
23 GMI ss156100866 Dec 01, 2009 (131)
24 ILLUMINA ss159122877 Dec 01, 2009 (131)
25 SEATTLESEQ ss159716512 Dec 01, 2009 (131)
26 ILLUMINA ss159891756 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss162207614 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss164094685 Jul 04, 2010 (132)
29 ILLUMINA ss170052759 Jul 04, 2010 (132)
30 BUSHMAN ss198867399 Jul 04, 2010 (132)
31 1000GENOMES ss223576388 Jul 14, 2010 (132)
32 1000GENOMES ss234345861 Jul 15, 2010 (132)
33 1000GENOMES ss241221832 Jul 15, 2010 (132)
34 BL ss254157056 May 09, 2011 (134)
35 GMI ss279717734 May 04, 2012 (137)
36 NHLBI-ESP ss342253601 May 09, 2011 (134)
37 ILLUMINA ss410878051 Sep 17, 2011 (135)
38 ILLUMINA ss479262019 May 04, 2012 (137)
39 ILLUMINA ss479264963 May 04, 2012 (137)
40 ILLUMINA ss479632864 Sep 08, 2015 (146)
41 ILLUMINA ss484431713 May 04, 2012 (137)
42 1000GENOMES ss490960717 May 04, 2012 (137)
43 EXOME_CHIP ss491410756 May 04, 2012 (137)
44 CLINSEQ_SNP ss491921836 May 04, 2012 (137)
45 ILLUMINA ss536554766 Sep 08, 2015 (146)
46 ILLUMINA ss536603399 Sep 08, 2015 (146)
47 TISHKOFF ss560588639 Apr 25, 2013 (138)
48 SSMP ss655024496 Apr 25, 2013 (138)
49 ILLUMINA ss778355409 Sep 08, 2015 (146)
50 ILLUMINA ss782662315 Sep 08, 2015 (146)
51 ILLUMINA ss783631253 Sep 08, 2015 (146)
52 ILLUMINA ss831912839 Sep 08, 2015 (146)
53 ILLUMINA ss832635597 Jul 13, 2019 (153)
54 ILLUMINA ss833810144 Sep 08, 2015 (146)
55 JMKIDD_LAB ss974467363 Aug 21, 2014 (142)
56 EVA-GONL ss985256280 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067495861 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1075326283 Aug 21, 2014 (142)
59 1000GENOMES ss1328853894 Aug 21, 2014 (142)
60 DDI ss1431436715 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1582586557 Apr 01, 2015 (144)
62 EVA_FINRISK ss1584057286 Apr 01, 2015 (144)
63 EVA_DECODE ss1594845135 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1620100535 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1663094568 Apr 01, 2015 (144)
66 EVA_EXAC ss1689107828 Apr 01, 2015 (144)
67 EVA_MGP ss1711194411 Apr 01, 2015 (144)
68 EVA_SVP ss1713019599 Apr 01, 2015 (144)
69 ILLUMINA ss1752722182 Sep 08, 2015 (146)
70 HAMMER_LAB ss1805425818 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1928545813 Feb 12, 2016 (147)
72 GENOMED ss1970925398 Jul 19, 2016 (147)
73 JJLAB ss2024971336 Sep 14, 2016 (149)
74 USC_VALOUEV ss2153192867 Dec 20, 2016 (150)
75 HUMAN_LONGEVITY ss2301164536 Dec 20, 2016 (150)
76 TOPMED ss2470822135 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2626970488 Nov 08, 2017 (151)
78 ILLUMINA ss2634717898 Nov 08, 2017 (151)
79 ILLUMINA ss2634717899 Nov 08, 2017 (151)
80 ILLUMINA ss2634717900 Nov 08, 2017 (151)
81 GRF ss2708953250 Nov 08, 2017 (151)
82 ILLUMINA ss2711131667 Nov 08, 2017 (151)
83 GNOMAD ss2737016641 Nov 08, 2017 (151)
84 GNOMAD ss2748005924 Nov 08, 2017 (151)
85 GNOMAD ss2863932582 Nov 08, 2017 (151)
86 SWEGEN ss3002780524 Nov 08, 2017 (151)
87 ILLUMINA ss3022824449 Nov 08, 2017 (151)
88 EVA_SAMSUNG_MC ss3023063894 Nov 08, 2017 (151)
89 BIOINF_KMB_FNS_UNIBA ss3026276047 Nov 08, 2017 (151)
90 CSIRBIOHTS ss3029637975 Nov 08, 2017 (151)
91 CSHL ss3348074284 Nov 08, 2017 (151)
92 TOPMED ss3555514708 Nov 08, 2017 (151)
93 ILLUMINA ss3630009716 Oct 12, 2018 (152)
94 ILLUMINA ss3630009717 Oct 12, 2018 (152)
95 ILLUMINA ss3632618566 Oct 12, 2018 (152)
96 ILLUMINA ss3633492979 Oct 12, 2018 (152)
97 ILLUMINA ss3634219382 Oct 12, 2018 (152)
98 ILLUMINA ss3635161278 Oct 12, 2018 (152)
99 ILLUMINA ss3635898368 Oct 12, 2018 (152)
100 ILLUMINA ss3636898278 Oct 12, 2018 (152)
101 ILLUMINA ss3637651508 Oct 12, 2018 (152)
102 ILLUMINA ss3638747286 Oct 12, 2018 (152)
103 ILLUMINA ss3640868568 Oct 12, 2018 (152)
104 ILLUMINA ss3643679166 Oct 12, 2018 (152)
105 OMUKHERJEE_ADBS ss3646372874 Oct 12, 2018 (152)
106 ILLUMINA ss3653365279 Oct 12, 2018 (152)
107 EGCUT_WGS ss3670459158 Jul 13, 2019 (153)
108 EVA_DECODE ss3721526500 Jul 13, 2019 (153)
109 ILLUMINA ss3726518831 Jul 13, 2019 (153)
110 ACPOP ss3735453495 Jul 13, 2019 (153)
111 ILLUMINA ss3745461068 Jul 13, 2019 (153)
112 EVA ss3767698252 Jul 13, 2019 (153)
113 ILLUMINA ss3772953668 Jul 13, 2019 (153)
114 PACBIO ss3786082987 Jul 13, 2019 (153)
115 PACBIO ss3791349755 Jul 13, 2019 (153)
116 PACBIO ss3796230924 Jul 13, 2019 (153)
117 KHV_HUMAN_GENOMES ss3810861612 Jul 13, 2019 (153)
118 EVA ss3824350614 Apr 26, 2020 (154)
119 EVA ss3825525050 Apr 26, 2020 (154)
120 EVA ss3825736886 Apr 26, 2020 (154)
121 EVA ss3831046603 Apr 26, 2020 (154)
122 EVA ss3839033009 Apr 26, 2020 (154)
123 EVA ss3844490958 Apr 26, 2020 (154)
124 SGDP_PRJ ss3869405007 Apr 26, 2020 (154)
125 KRGDB ss3916829875 Apr 26, 2020 (154)
126 1000Genomes NC_000008.10 - 18257795 Oct 12, 2018 (152)
127 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18257795 Oct 12, 2018 (152)
128 Genetic variation in the Estonian population NC_000008.10 - 18257795 Oct 12, 2018 (152)
129 ExAC NC_000008.10 - 18257795 Oct 12, 2018 (152)
130 FINRISK NC_000008.10 - 18257795 Apr 26, 2020 (154)
131 The Danish reference pan genome NC_000008.10 - 18257795 Apr 26, 2020 (154)
132 gnomAD - Genomes NC_000008.10 - 18257795 Jul 13, 2019 (153)
133 gnomAD - Exomes NC_000008.10 - 18257795 Jul 13, 2019 (153)
134 GO Exome Sequencing Project NC_000008.10 - 18257795 Oct 12, 2018 (152)
135 Genome of the Netherlands Release 5 NC_000008.10 - 18257795 Apr 26, 2020 (154)
136 HapMap NC_000008.11 - 18400285 Apr 26, 2020 (154)
137 KOREAN population from KRGDB NC_000008.10 - 18257795 Apr 26, 2020 (154)
138 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18257795 Apr 26, 2020 (154)
139 Northern Sweden NC_000008.10 - 18257795 Jul 13, 2019 (153)
140 Qatari NC_000008.10 - 18257795 Apr 26, 2020 (154)
141 SGDP_PRJ NC_000008.10 - 18257795 Apr 26, 2020 (154)
142 Siberian NC_000008.10 - 18257795 Apr 26, 2020 (154)
143 TopMed NC_000008.11 - 18400285 Oct 12, 2018 (152)
144 UK 10K study - Twins NC_000008.10 - 18257795 Oct 12, 2018 (152)
145 A Vietnamese Genetic Variation Database NC_000008.10 - 18257795 Jul 13, 2019 (153)
146 dbGaP Population Frequency Project NC_000008.11 - 18400285 Apr 26, 2020 (154)
147 ClinVar RCV000417176.1 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)
rs17845484 Mar 10, 2006 (126)
rs17858364 Mar 10, 2006 (126)
rs59855457 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83381656, ss93848828, ss112880873, ss115075069, ss115861052, ss162207614, ss164094685, ss198867399, ss254157056, ss279717734, ss479262019, ss491921836, ss1594845135, ss1713019599, ss3643679166 NC_000008.9:18302074:C:T NC_000008.11:18400284:C:T (self)
40947076, 22761465, 16197406, 9201183, 53747, 8751495, 111847161, 6184575, 808474, 10170873, 24007269, 310171, 8738360, 10587743, 21421987, 5709221, 22761465, 5074604, ss223576388, ss234345861, ss241221832, ss342253601, ss479264963, ss479632864, ss484431713, ss490960717, ss491410756, ss536554766, ss536603399, ss560588639, ss655024496, ss778355409, ss782662315, ss783631253, ss831912839, ss832635597, ss833810144, ss974467363, ss985256280, ss1067495861, ss1075326283, ss1328853894, ss1431436715, ss1582586557, ss1584057286, ss1620100535, ss1663094568, ss1689107828, ss1711194411, ss1752722182, ss1805425818, ss1928545813, ss1970925398, ss2024971336, ss2153192867, ss2470822135, ss2626970488, ss2634717898, ss2634717899, ss2634717900, ss2708953250, ss2711131667, ss2737016641, ss2748005924, ss2863932582, ss3002780524, ss3022824449, ss3023063894, ss3029637975, ss3348074284, ss3630009716, ss3630009717, ss3632618566, ss3633492979, ss3634219382, ss3635161278, ss3635898368, ss3636898278, ss3637651508, ss3638747286, ss3640868568, ss3646372874, ss3653365279, ss3670459158, ss3735453495, ss3745461068, ss3767698252, ss3772953668, ss3786082987, ss3791349755, ss3796230924, ss3824350614, ss3825525050, ss3825736886, ss3831046603, ss3839033009, ss3869405007, ss3916829875 NC_000008.10:18257794:C:T NC_000008.11:18400284:C:T (self)
RCV000417176.1, 3577444, 384382845, 725016794, ss2301164536, ss3026276047, ss3555514708, ss3721526500, ss3726518831, ss3810861612, ss3844490958 NC_000008.11:18400284:C:T NC_000008.11:18400284:C:T (self)
ss52067226 NT_030737.9:6102722:C:T NC_000008.11:18400284:C:T (self)
ss1508852, ss2420889, ss5586797, ss6311208, ss28497869, ss28512666, ss65732322, ss66858967, ss70456613, ss74980700, ss76874089, ss86272062, ss99307905, ss105603530, ss119379386, ss152722299, ss156100866, ss159122877, ss159716512, ss159891756, ss170052759, ss410878051 NT_167187.1:6115940:C:T NC_000008.11:18400284: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.

72 citations for rs1041983
PMID Title Author Year Journal
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)
16400611 Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Suarez BK et al. 2006 American journal of human genetics
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
17335581 Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus. Soejima M et al. 2007 Arthritis research & therapy
18421452 Association of slow N-acetyltransferase 2 profile and anti-TB drug-induced hepatotoxicity in patients from Southern Brazil. Possuelo LG et al. 2008 European journal of clinical pharmacology
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
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
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
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
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
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
21845925 A genetic instrumental variables analysis of the effects of prenatal smoking on birth weight: evidence from two samples. Wehby GL et al. 2011 Biodemography and social biology
21894447 Are centenarians genetically predisposed to lower disease risk? Ruiz JR et al. 2012 Age (Dordrecht, Netherlands)
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
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
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
22506592 NAT2 and CYP2E1 polymorphisms associated with antituberculosis drug-induced hepatotoxicity in Chinese patients. An HR et al. 2012 Clinical and experimental pharmacology & physiology
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
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
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
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
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
23660777 Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate. Song T et al. 2013 Molecular medicine reports
24221535 Refinement of the prediction of N-acetyltransferase 2 (NAT2) phenotypes with respect to enzyme activity and urinary bladder cancer risk. Selinski S et al. 2013 Archives of toxicology
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
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
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
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
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
27340556 Development of a prediction system for anti-tuberculosis drug-induced liver injury in Japanese patients. Mushiroda T et al. 2016 Human genome variation
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
28028995 Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. Choi R et al. 2017 Annals of laboratory medicine
28259080 Passive smoking and influenza-like illness in housewives: A perspective of gene susceptibility. Wang B et al. 2017 Chemosphere
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
29036176 Association and clinical utility of NAT2 in the prediction of isoniazid-induced liver injury in Singaporean patients. Chan SL et al. 2017 PloS one
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
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
31174321 Isoniazid Concentration and <i>NAT2</i> Genotype Predict Risk of Systemic Drug Reactions during 3HP for LTBI. Lee MR et al. 2019 Journal of clinical medicine
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