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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.

rs1799931

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400860 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.057573 (13017/226094, GnomAD_exome)
A=0.031710 (5028/158560, ALFA Project)
A=0.043379 (5447/125568, TOPMED) (+ 22 more)
A=0.055273 (6140/111084, ExAC)
A=0.06942 (5463/78700, PAGE_STUDY)
A=0.04131 (1297/31394, GnomAD)
A=0.0773 (387/5008, 1000G)
A=0.0442 (198/4480, Estonian)
A=0.0197 (76/3854, ALSPAC)
A=0.0227 (84/3708, TWINSUK)
A=0.1259 (369/2930, KOREAN)
A=0.0589 (111/1886, HapMap)
A=0.1365 (250/1832, Korea1K)
A=0.0440 (50/1136, Daghestan)
A=0.025 (25/998, GoNL)
A=0.156 (95/609, Vietnamese)
A=0.010 (6/600, NorthernSweden)
A=0.015 (8/534, MGP)
A=0.084 (30/356, PharmGKB)
A=0.036 (11/304, FINRISK)
A=0.032 (7/216, Qatari)
G=0.455 (51/112, SGDP_PRJ)
A=0.03 (1/40, GENOME_DK)
G=0.5 (5/10, Siberian)
A=0.5 (5/10, Siberian)
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.18400860G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258370G>A
NAT2 RefSeqGene NG_012246.1:g.14616G>A
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.857G>A G [GGA] > E [GAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Gly286Glu G (Gly) > E (Glu) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.857G>A G [GGA] > E [GAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Gly286Glu G (Gly) > E (Glu) 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: A (allele ID: 15764 )
ClinVar Accession Disease Names Clinical Significance
RCV000000761.1 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 319986 G=0.969167 A=0.030833
European Sub 278776 G=0.975206 A=0.024794
African Sub 11622 G=0.96636 A=0.03364
African Others Sub 410 G=0.973 A=0.027
African American Sub 11212 G=0.96611 A=0.03389
Asian Sub 3994 G=0.8535 A=0.1465
East Asian Sub 3218 G=0.8614 A=0.1386
Other Asian Sub 776 G=0.821 A=0.179
Latin American 1 Sub 1134 G=0.9400 A=0.0600
Latin American 2 Sub 7228 G=0.8646 A=0.1354
South Asian Sub 5222 G=0.9332 A=0.0668
Other Sub 12010 G=0.95154 A=0.04846


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 226094 G=0.942427 A=0.057573
gnomAD - Exomes European Sub 124250 G=0.973095 A=0.026905
gnomAD - Exomes Asian Sub 43018 G=0.89616 A=0.10384
gnomAD - Exomes American Sub 30470 G=0.85779 A=0.14221
gnomAD - Exomes African Sub 14936 G=0.97014 A=0.02986
gnomAD - Exomes Ashkenazi Jewish Sub 8006 G=0.9810 A=0.0190
gnomAD - Exomes Other Sub 5414 G=0.9490 A=0.0510
ALFA Total Global 158560 G=0.968290 A=0.031710
ALFA European Sub 135466 G=0.975322 A=0.024678
ALFA African Sub 6580 G=0.9675 A=0.0325
ALFA Latin American 2 Sub 5442 G=0.8592 A=0.1408
ALFA Other Sub 5258 G=0.9441 A=0.0559
ALFA South Asian Sub 4898 G=0.9326 A=0.0674
ALFA Latin American 1 Sub 562 G=0.957 A=0.043
ALFA Asian Sub 354 G=0.839 A=0.161
TopMed Global Study-wide 125568 G=0.956621 A=0.043379
ExAC Global Study-wide 111084 G=0.944727 A=0.055273
ExAC Europe Sub 68864 G=0.97357 A=0.02643
ExAC Asian Sub 20986 G=0.89040 A=0.10960
ExAC American Sub 11390 G=0.85294 A=0.14706
ExAC African Sub 9030 G=0.9671 A=0.0329
ExAC Other Sub 814 G=0.941 A=0.059
The PAGE Study Global Study-wide 78700 G=0.93058 A=0.06942
The PAGE Study AfricanAmerican Sub 32514 G=0.96924 A=0.03076
The PAGE Study Mexican Sub 10810 G=0.87021 A=0.12979
The PAGE Study Asian Sub 8318 G=0.8839 A=0.1161
The PAGE Study PuertoRican Sub 7918 G=0.9223 A=0.0777
The PAGE Study NativeHawaiian Sub 4534 G=0.9380 A=0.0620
The PAGE Study Cuban Sub 4230 G=0.9560 A=0.0440
The PAGE Study Dominican Sub 3828 G=0.9397 A=0.0603
The PAGE Study CentralAmerican Sub 2450 G=0.8686 A=0.1314
The PAGE Study SouthAmerican Sub 1982 G=0.8476 A=0.1524
The PAGE Study NativeAmerican Sub 1260 G=0.9294 A=0.0706
The PAGE Study SouthAsian Sub 856 G=0.921 A=0.079
gnomAD - Genomes Global Study-wide 31394 G=0.95869 A=0.04131
gnomAD - Genomes European Sub 18896 G=0.96862 A=0.03138
gnomAD - Genomes African Sub 8716 G=0.9644 A=0.0356
gnomAD - Genomes East Asian Sub 1556 G=0.8438 A=0.1562
gnomAD - Genomes Other Sub 1088 G=0.9688 A=0.0312
gnomAD - Genomes American Sub 848 G=0.869 A=0.131
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.979 A=0.021
1000Genomes Global Study-wide 5008 G=0.9227 A=0.0773
1000Genomes African Sub 1322 G=0.9713 A=0.0287
1000Genomes East Asian Sub 1008 G=0.8204 A=0.1796
1000Genomes Europe Sub 1006 G=0.9771 A=0.0229
1000Genomes South Asian Sub 978 G=0.931 A=0.069
1000Genomes American Sub 694 G=0.888 A=0.112
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9558 A=0.0442
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9803 A=0.0197
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9773 A=0.0227
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8741 A=0.1259
HapMap Global Study-wide 1886 G=0.9411 A=0.0589
HapMap American Sub 770 G=0.932 A=0.068
HapMap African Sub 692 G=0.962 A=0.038
HapMap Asian Sub 250 G=0.876 A=0.124
HapMap Europe Sub 174 G=0.989 A=0.011
Korean Genome Project KOREAN Study-wide 1832 G=0.8635 A=0.1365
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.9560 A=0.0440
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.973 A=0.027
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.944 A=0.056
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.902 A=0.098
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.972 A=0.028
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.92 A=0.08
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.94 A=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.975 A=0.025
A Vietnamese Genetic Variation Database Global Study-wide 609 G=0.844 A=0.156
Northern Sweden ACPOP Study-wide 600 G=0.990 A=0.010
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.985 A=0.015
PharmGKB Aggregated Global Study-wide 356 G=0.916 A=0.084
PharmGKB Aggregated PA147989478 Sub 356 G=0.916 A=0.084
FINRISK Finnish from FINRISK project Study-wide 304 G=0.964 A=0.036
Qatari Global Study-wide 216 G=0.968 A=0.032
SGDP_PRJ Global Study-wide 112 G=0.455 A=0.545
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
Siberian Global Study-wide 10 G=0.5 A=0.5
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p12 chr 8 NC_000008.11:g.18400860= NC_000008.11:g.18400860G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258370= NC_000008.10:g.18258370G>A
NAT2 RefSeqGene NG_012246.1:g.14616= NG_012246.1:g.14616G>A
NAT2 transcript NM_000015.3:c.857= NM_000015.3:c.857G>A
NAT2 transcript NM_000015.2:c.857= NM_000015.2:c.857G>A
NAT2 transcript variant X1 XM_017012938.1:c.857= XM_017012938.1:c.857G>A
arylamine N-acetyltransferase 2 NP_000006.2:p.Gly286= NP_000006.2:p.Gly286Glu
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Gly286= XP_016868427.1:p.Gly286Glu
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, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2419982 Nov 14, 2000 (89)
2 SNP500CANCER ss5586794 Jul 02, 2003 (116)
3 RIKENSNPRC ss6311251 Feb 20, 2003 (113)
4 PERLEGEN ss24180357 Sep 20, 2004 (123)
5 ILLUMINA ss65725860 Oct 16, 2006 (127)
6 EGP_SNPS ss66858971 Dec 01, 2006 (127)
7 PERLEGEN ss69042401 May 17, 2007 (127)
8 EGP_SNPS ss70456622 May 17, 2007 (127)
9 AFFY ss74810437 Aug 16, 2007 (128)
10 ILLUMINA ss74877977 Dec 07, 2007 (129)
11 CGM_KYOTO ss76869177 Dec 07, 2007 (129)
12 PHARMGKB_AB_DME ss84168281 Dec 15, 2007 (130)
13 CORNELL ss86271256 Mar 23, 2008 (129)
14 SHGC ss99307911 Feb 05, 2009 (130)
15 BGI ss104510604 Dec 01, 2009 (131)
16 OMIM-CURATED-RECORDS ss140403753 Dec 01, 2009 (131)
17 ILLUMINA ss153736160 Dec 01, 2009 (131)
18 ILLUMINA ss159329701 Dec 01, 2009 (131)
19 ILLUMINA ss160462715 Dec 01, 2009 (131)
20 ILLUMINA ss172924252 Jul 04, 2010 (132)
21 1000GENOMES ss223576396 Jul 14, 2010 (132)
22 1000GENOMES ss234345866 Jul 15, 2010 (132)
23 1000GENOMES ss241221836 Jul 15, 2010 (132)
24 ILLUMINA ss244284961 Jul 04, 2010 (132)
25 OMIM-CURATED-RECORDS ss252841663 Aug 12, 2010 (132)
26 NHLBI-ESP ss342253628 May 09, 2011 (134)
27 ILLUMINA ss410878059 Sep 17, 2011 (135)
28 GMI ss475721562 May 04, 2012 (137)
29 ILLUMINA ss480300122 May 04, 2012 (137)
30 ILLUMINA ss480311212 May 04, 2012 (137)
31 ILLUMINA ss481066655 Sep 08, 2015 (146)
32 ILLUMINA ss482104901 May 04, 2012 (137)
33 ILLUMINA ss484947872 May 04, 2012 (137)
34 ILLUMINA ss485580728 May 04, 2012 (137)
35 1000GENOMES ss490960732 May 04, 2012 (137)
36 EXOME_CHIP ss491410773 May 04, 2012 (137)
37 CLINSEQ_SNP ss491921845 May 04, 2012 (137)
38 ILLUMINA ss536992204 Sep 08, 2015 (146)
39 SSMP ss655024501 Apr 25, 2013 (138)
40 ILLUMINA ss778841466 Sep 08, 2015 (146)
41 ILLUMINA ss779115106 Sep 08, 2015 (146)
42 ILLUMINA ss780867837 Sep 08, 2015 (146)
43 ILLUMINA ss781650656 Sep 08, 2015 (146)
44 ILLUMINA ss782920244 Sep 08, 2015 (146)
45 ILLUMINA ss783552768 Sep 08, 2015 (146)
46 ILLUMINA ss783883285 Sep 08, 2015 (146)
47 ILLUMINA ss832175366 Sep 08, 2015 (146)
48 ILLUMINA ss832841710 Jul 13, 2019 (153)
49 ILLUMINA ss834302023 Sep 08, 2015 (146)
50 ILLUMINA ss834579360 Sep 08, 2015 (146)
51 JMKIDD_LAB ss974467368 Aug 21, 2014 (142)
52 EVA-GONL ss985256290 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067495867 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1075326289 Aug 21, 2014 (142)
55 1000GENOMES ss1328853927 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397519434 Sep 08, 2015 (146)
57 DDI ss1431436720 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1582586563 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584057292 Apr 01, 2015 (144)
60 EVA_DECODE ss1594845143 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1620100550 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1663094583 Apr 01, 2015 (144)
63 EVA_EXAC ss1689107952 Apr 01, 2015 (144)
64 EVA_MGP ss1711194417 Apr 01, 2015 (144)
65 EVA_SVP ss1713019603 Apr 01, 2015 (144)
66 ILLUMINA ss1752722197 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1928545821 Feb 12, 2016 (147)
68 ILLUMINA ss1946231125 Feb 12, 2016 (147)
69 ILLUMINA ss1959092426 Feb 12, 2016 (147)
70 GENOMED ss1970925403 Jul 19, 2016 (147)
71 JJLAB ss2024971343 Sep 14, 2016 (149)
72 USC_VALOUEV ss2153192872 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2301164585 Dec 20, 2016 (150)
74 TOPMED ss2470822184 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2626970491 Nov 08, 2017 (151)
76 ILLUMINA ss2634717921 Nov 08, 2017 (151)
77 ILLUMINA ss2634717922 Nov 08, 2017 (151)
78 ILLUMINA ss2634717923 Nov 08, 2017 (151)
79 GRF ss2708953255 Nov 08, 2017 (151)
80 ILLUMINA ss2711131684 Nov 08, 2017 (151)
81 GNOMAD ss2737016815 Nov 08, 2017 (151)
82 GNOMAD ss2748005978 Nov 08, 2017 (151)
83 GNOMAD ss2863932636 Nov 08, 2017 (151)
84 AFFY ss2985432625 Nov 08, 2017 (151)
85 AFFY ss2986074661 Nov 08, 2017 (151)
86 SWEGEN ss3002780533 Nov 08, 2017 (151)
87 ILLUMINA ss3022824469 Nov 08, 2017 (151)
88 CSHL ss3348074289 Nov 08, 2017 (151)
89 TOPMED ss3555514818 Nov 08, 2017 (151)
90 ILLUMINA ss3625946947 Oct 12, 2018 (152)
91 ILLUMINA ss3630009743 Oct 12, 2018 (152)
92 ILLUMINA ss3630009744 Oct 12, 2018 (152)
93 ILLUMINA ss3632618574 Oct 12, 2018 (152)
94 ILLUMINA ss3632618575 Oct 12, 2018 (152)
95 ILLUMINA ss3633492983 Oct 12, 2018 (152)
96 ILLUMINA ss3634219386 Oct 12, 2018 (152)
97 ILLUMINA ss3635161296 Oct 12, 2018 (152)
98 ILLUMINA ss3635161297 Oct 12, 2018 (152)
99 ILLUMINA ss3635898372 Oct 12, 2018 (152)
100 ILLUMINA ss3636898287 Oct 12, 2018 (152)
101 ILLUMINA ss3637651512 Oct 12, 2018 (152)
102 ILLUMINA ss3638747293 Oct 12, 2018 (152)
103 ILLUMINA ss3640868586 Oct 12, 2018 (152)
104 ILLUMINA ss3640868587 Oct 12, 2018 (152)
105 ILLUMINA ss3643679172 Oct 12, 2018 (152)
106 ILLUMINA ss3644964299 Oct 12, 2018 (152)
107 OMUKHERJEE_ADBS ss3646372879 Oct 12, 2018 (152)
108 ILLUMINA ss3653365299 Oct 12, 2018 (152)
109 ILLUMINA ss3654194416 Oct 12, 2018 (152)
110 EGCUT_WGS ss3670459169 Jul 13, 2019 (153)
111 EVA_DECODE ss3721526510 Jul 13, 2019 (153)
112 ILLUMINA ss3726518849 Jul 13, 2019 (153)
113 ACPOP ss3735453501 Jul 13, 2019 (153)
114 ILLUMINA ss3744302593 Jul 13, 2019 (153)
115 ILLUMINA ss3745461086 Jul 13, 2019 (153)
116 ILLUMINA ss3745461087 Jul 13, 2019 (153)
117 EVA ss3767698261 Jul 13, 2019 (153)
118 PAGE_CC ss3771427502 Jul 13, 2019 (153)
119 ILLUMINA ss3772953683 Jul 13, 2019 (153)
120 KHV_HUMAN_GENOMES ss3810861622 Jul 13, 2019 (153)
121 EVA ss3824350649 Apr 26, 2020 (154)
122 EVA ss3825736893 Apr 26, 2020 (154)
123 SGDP_PRJ ss3869405021 Apr 26, 2020 (154)
124 KRGDB ss3916829889 Apr 26, 2020 (154)
125 KOGIC ss3963375454 Apr 26, 2020 (154)
126 1000Genomes NC_000008.10 - 18258370 Oct 12, 2018 (152)
127 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18258370 Oct 12, 2018 (152)
128 Genome-wide autozygosity in Daghestan NC_000008.9 - 18302650 Apr 26, 2020 (154)
129 Genetic variation in the Estonian population NC_000008.10 - 18258370 Oct 12, 2018 (152)
130 ExAC NC_000008.10 - 18258370 Oct 12, 2018 (152)
131 FINRISK NC_000008.10 - 18258370 Apr 26, 2020 (154)
132 The Danish reference pan genome NC_000008.10 - 18258370 Apr 26, 2020 (154)
133 gnomAD - Genomes NC_000008.10 - 18258370 Jul 13, 2019 (153)
134 gnomAD - Exomes NC_000008.10 - 18258370 Jul 13, 2019 (153)
135 Genome of the Netherlands Release 5 NC_000008.10 - 18258370 Apr 26, 2020 (154)
136 HapMap NC_000008.11 - 18400860 Apr 26, 2020 (154)
137 KOREAN population from KRGDB NC_000008.10 - 18258370 Apr 26, 2020 (154)
138 Korean Genome Project NC_000008.11 - 18400860 Apr 26, 2020 (154)
139 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18258370 Apr 26, 2020 (154)
140 Northern Sweden NC_000008.10 - 18258370 Jul 13, 2019 (153)
141 The PAGE Study NC_000008.11 - 18400860 Jul 13, 2019 (153)
142 PharmGKB Aggregated NC_000008.11 - 18400860 Apr 26, 2020 (154)
143 Qatari NC_000008.10 - 18258370 Apr 26, 2020 (154)
144 SGDP_PRJ NC_000008.10 - 18258370 Apr 26, 2020 (154)
145 Siberian NC_000008.10 - 18258370 Apr 26, 2020 (154)
146 TopMed NC_000008.11 - 18400860 Oct 12, 2018 (152)
147 UK 10K study - Twins NC_000008.10 - 18258370 Oct 12, 2018 (152)
148 A Vietnamese Genetic Variation Database NC_000008.10 - 18258370 Jul 13, 2019 (153)
149 dbGaP Population Frequency Project NC_000008.11 - 18400860 Apr 26, 2020 (154)
150 ClinVar RCV000000761.1 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)
rs4646270 Mar 31, 2003 (113)
rs17693862 Oct 08, 2004 (123)
rs52802193 Sep 21, 2007 (128)
rs58803786 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493338, ss475721562, ss480300122, ss485580728, ss491921845, ss1397519434, ss1594845143, ss1713019603, ss3643679172 NC_000008.9:18302649:G:A NC_000008.11:18400859:G:A (self)
40947109, 22761480, 16197417, 9201312, 53753, 8751501, 111847214, 6184766, 10170883, 24007283, 310177, 8738366, 10587751, 21422001, 5709226, 22761480, 5074611, ss223576396, ss234345866, ss241221836, ss342253628, ss480311212, ss481066655, ss482104901, ss484947872, ss490960732, ss491410773, ss536992204, ss655024501, ss778841466, ss779115106, ss780867837, ss781650656, ss782920244, ss783552768, ss783883285, ss832175366, ss832841710, ss834302023, ss834579360, ss974467368, ss985256290, ss1067495867, ss1075326289, ss1328853927, ss1431436720, ss1582586563, ss1584057292, ss1620100550, ss1663094583, ss1689107952, ss1711194417, ss1752722197, ss1928545821, ss1946231125, ss1959092426, ss1970925403, ss2024971343, ss2153192872, ss2470822184, ss2626970491, ss2634717921, ss2634717922, ss2634717923, ss2708953255, ss2711131684, ss2737016815, ss2748005978, ss2863932636, ss2985432625, ss2986074661, ss3002780533, ss3022824469, ss3348074289, ss3625946947, ss3630009743, ss3630009744, ss3632618574, ss3632618575, ss3633492983, ss3634219386, ss3635161296, ss3635161297, ss3635898372, ss3636898287, ss3637651512, ss3638747293, ss3640868586, ss3640868587, ss3644964299, ss3646372879, ss3653365299, ss3654194416, ss3670459169, ss3735453501, ss3744302593, ss3745461086, ss3745461087, ss3767698261, ss3772953683, ss3824350649, ss3825736893, ss3869405021, ss3916829889 NC_000008.10:18258369:G:A NC_000008.11:18400859:G:A (self)
RCV000000761.1, 3577452, 19753455, 648971, 12433, 384382940, 62232808, ss140403753, ss252841663, ss2301164585, ss3555514818, ss3721526510, ss3726518849, ss3771427502, ss3810861622, ss3963375454 NC_000008.11:18400859:G:A NC_000008.11:18400859:G:A (self)
ss2419982, ss5586794, ss6311251, ss24180357, ss65725860, ss66858971, ss69042401, ss70456622, ss74810437, ss74877977, ss76869177, ss84168281, ss86271256, ss99307911, ss104510604, ss153736160, ss159329701, ss160462715, ss172924252, ss244284961, ss410878059 NT_167187.1:6116515:G:A NC_000008.11:18400859:G:A (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 rs1799931
PMID Title Author Year Journal
1968463 Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver. Ohsako S et al. 1990 The Journal of biological chemistry
8460648 Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: application to metabolic epidemiology. Lin HJ et al. 1993 American journal of human genetics
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
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
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
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
18449058 Maternal smoking and oral clefts: the role of detoxification pathway genes. Lie RT et al. 2008 Epidemiology (Cambridge, Mass.)
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
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
19766908 Association of NAT2 gene polymorphisms with susceptibility to esophageal and gastric cancers in the Kashmir Valley. Malik MA et al. 2009 Archives of medical research
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
20923563 Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations. Talbot J et al. 2010 BMC genetics
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
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
21708280 Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. Srivastava K et al. 2011 Mutation research
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
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
22137356 An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians. Balaji L et al. 2012 Archives of oral biology
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
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
22822096 Red meat and poultry, cooking practices, genetic susceptibility and risk of prostate cancer: results from a multiethnic case-control study. Joshi AD et al. 2012 Carcinogenesis
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
23072573 Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously. Zhu J et al. 2013 Genetic testing and molecular biomarkers
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
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
23555028 Interactions between urinary 4-tert-octylphenol levels and metabolism enzyme gene variants on idiopathic male infertility. Qin Y et al. 2013 PloS one
24488272 Combined effects of urinary phytoestrogens metabolites and polymorphisms in metabolic enzyme gene on idiopathic male infertility. Qin Y et al. 2014 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
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25355624 Tobacco smoking, polymorphisms in carcinogen metabolism enzyme genes, and risk of localized and advanced prostate cancer: results from the California Collaborative Prostate Cancer Study. Shahabi A et al. 2014 Cancer medicine
25980667 Pharmacogenetics of treatment response in psoriatic arthritis. Jani M et al. 2015 Current rheumatology reports
26029010 Gene-by-Environment Interactions in Pancreatic Cancer: Implications for Prevention. Jansen RJ et al. 2015 The Yale journal of biology and medicine
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
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
27015811 Associations of air pollution exposure with blood pressure and heart rate variability are modified by oxidative stress genes: A repeated-measures panel among elderly urban residents. Kim KN et al. 2016 Environmental health
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
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
28028995 Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. Choi R et al. 2017 Annals of laboratory medicine
28321040 Whole exome sequencing detects variants of genes that mediate response to anticancer drugs. Ohnami S et al. 2017 The Journal of toxicological sciences
28652652 Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. Sharma A et al. 2017 World journal of gastroenterology
29049179 Genetic polymorphisms of NAT2 and risk of acute myeloid leukemia: A case-control study. Zou Y et al. 2017 Medicine
29143350 DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa. Glass T et al. 2018 American journal of industrial medicine
29371971 Association between the <i>PINX1</i> and <i>NAT2</i> polymorphisms and serum lipid levels. Zhang QH et al. 2017 Oncotarget
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
29992137 <i>NAT2</i> Gene Polymorphisms in Turkish Patients with Psoriasis Vulgaris. Dursun R et al. 2018 BioMed research international
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
30693270 Modeling Gene-Environment Interaction for the Risk of Non-hodgkin Lymphoma. Zhang J et al. 2018 Frontiers in oncology
30896661 Association between NAT2 polymorphisms and acute leukemia risk: A meta-analysis. Zhu X et al. 2019 Medicine
31254350 Risk of congenital heart diseases associated with NAT2 genetic polymorphisms and maternal polycyclic aromatic hydrocarbons exposure. Tao J et al. 2019 Prenatal diagnosis
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
31881062 NAT2 gene polymorphisms and endometriosis risk: A PRISMA-compliant meta-analysis. Wei Z et al. 2019 PloS one
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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.
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Software version is: 2.0.1.post557+f76c771