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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.

rs1799930

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400593 (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=0.272850 (68188/249910, GnomAD_exome)
A=0.285731 (55429/193990, ALFA Project)
A=0.270889 (34015/125568, TOPMED) (+ 19 more)
A=0.277270 (33553/121012, ExAC)
A=0.23681 (18634/78688, PAGE_STUDY)
A=0.26979 (8453/31332, GnomAD)
A=0.2650 (1327/5008, 1000G)
A=0.2687 (1204/4480, Estonian)
A=0.3031 (1168/3854, ALSPAC)
A=0.2902 (1076/3708, TWINSUK)
A=0.2020 (592/2930, KOREAN)
A=0.2757 (520/1886, HapMap)
A=0.278 (277/998, GoNL)
A=0.150 (94/626, Chileans)
A=0.319 (195/612, Vietnamese)
A=0.278 (167/600, NorthernSweden)
A=0.266 (142/534, MGP)
A=0.247 (75/304, FINRISK)
G=0.438 (105/240, SGDP_PRJ)
A=0.255 (55/216, Qatari)
A=0.35 (14/40, GENOME_DK)
G=0.44 (8/18, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
120 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.18400593G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258103G>A
NAT2 RefSeqGene NG_012246.1:g.14349G>A
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.590G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg197Gln R (Arg) > Q (Gln) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.590G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg197Gln R (Arg) > Q (Gln) 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: 15761 )
ClinVar Accession Disease Names Clinical Significance
RCV000000758.1 Slow acetylator due to N-acetyltransferase enzyme variant Drug-Response
RCV000417141.1 ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK 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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 193990 G=0.714269 A=0.285731
European Sub 162052 G=0.709235 A=0.290765
African Sub 7324 G=0.7510 A=0.2490
African Others Sub 228 G=0.750 A=0.250
African American Sub 7096 G=0.7510 A=0.2490
Asian Sub 472 G=0.752 A=0.248
East Asian Sub 304 G=0.806 A=0.194
Other Asian Sub 168 G=0.655 A=0.345
Latin American 1 Sub 708 G=0.725 A=0.275
Latin American 2 Sub 7602 G=0.8253 A=0.1747
South Asian Sub 4914 G=0.6435 A=0.3565
Other Sub 10918 G=0.71661 A=0.28339


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 249910 G=0.727150 A=0.272850
gnomAD - Exomes European Sub 134824 G=0.719560 A=0.280440
gnomAD - Exomes Asian Sub 48588 G=0.67731 A=0.32269
gnomAD - Exomes American Sub 34368 G=0.84390 A=0.15610
gnomAD - Exomes African Sub 16056 G=0.74346 A=0.25654
gnomAD - Exomes Ashkenazi Jewish Sub 10002 G=0.64597 A=0.35403
gnomAD - Exomes Other Sub 6072 G=0.7243 A=0.2757
ALFA Total Global 193990 G=0.714269 A=0.285731
ALFA European Sub 162052 G=0.709235 A=0.290765
ALFA Other Sub 10918 G=0.71661 A=0.28339
ALFA Latin American 2 Sub 7602 G=0.8253 A=0.1747
ALFA African Sub 7324 G=0.7510 A=0.2490
ALFA South Asian Sub 4914 G=0.6435 A=0.3565
ALFA Latin American 1 Sub 708 G=0.725 A=0.275
ALFA Asian Sub 472 G=0.752 A=0.248
TopMed Global Study-wide 125568 G=0.729111 A=0.270889
ExAC Global Study-wide 121012 G=0.722730 A=0.277270
ExAC Europe Sub 73268 G=0.71498 A=0.28502
ExAC Asian Sub 25146 G=0.67756 A=0.32244
ExAC American Sub 11532 G=0.85519 A=0.14481
ExAC African Sub 10160 G=0.73898 A=0.26102
ExAC Other Sub 906 G=0.735 A=0.265
The PAGE Study Global Study-wide 78688 G=0.76319 A=0.23681
The PAGE Study AfricanAmerican Sub 32510 G=0.74014 A=0.25986
The PAGE Study Mexican Sub 10808 G=0.81736 A=0.18264
The PAGE Study Asian Sub 8318 G=0.7865 A=0.2135
The PAGE Study PuertoRican Sub 7916 G=0.7913 A=0.2087
The PAGE Study NativeHawaiian Sub 4532 G=0.7151 A=0.2849
The PAGE Study Cuban Sub 4230 G=0.7437 A=0.2563
The PAGE Study Dominican Sub 3828 G=0.7461 A=0.2539
The PAGE Study CentralAmerican Sub 2450 G=0.8114 A=0.1886
The PAGE Study SouthAmerican Sub 1982 G=0.8189 A=0.1811
The PAGE Study NativeAmerican Sub 1258 G=0.7583 A=0.2417
The PAGE Study SouthAsian Sub 856 G=0.636 A=0.364
gnomAD - Genomes Global Study-wide 31332 G=0.73021 A=0.26979
gnomAD - Genomes European Sub 18870 G=0.72162 A=0.27838
gnomAD - Genomes African Sub 8690 G=0.7403 A=0.2597
gnomAD - Genomes East Asian Sub 1548 G=0.7364 A=0.2636
gnomAD - Genomes Other Sub 1088 G=0.7243 A=0.2757
gnomAD - Genomes American Sub 846 G=0.850 A=0.150
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.628 A=0.372
1000Genomes Global Study-wide 5008 G=0.7350 A=0.2650
1000Genomes African Sub 1322 G=0.7625 A=0.2375
1000Genomes East Asian Sub 1008 G=0.7440 A=0.2560
1000Genomes Europe Sub 1006 G=0.7177 A=0.2823
1000Genomes South Asian Sub 978 G=0.640 A=0.360
1000Genomes American Sub 694 G=0.829 A=0.171
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7312 A=0.2687
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6969 A=0.3031
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7098 A=0.2902
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7980 A=0.2020
HapMap Global Study-wide 1886 G=0.7243 A=0.2757
HapMap American Sub 766 G=0.722 A=0.278
HapMap African Sub 690 G=0.719 A=0.281
HapMap Asian Sub 254 G=0.756 A=0.244
HapMap Europe Sub 176 G=0.710 A=0.290
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.722 A=0.278
Chileans Chilean Study-wide 626 G=0.850 A=0.150
A Vietnamese Genetic Variation Database Global Study-wide 612 G=0.681 A=0.319
Northern Sweden ACPOP Study-wide 600 G=0.722 A=0.278
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.734 A=0.266
FINRISK Finnish from FINRISK project Study-wide 304 G=0.753 A=0.247
SGDP_PRJ Global Study-wide 240 G=0.438 A=0.562
Qatari Global Study-wide 216 G=0.745 A=0.255
The Danish reference pan genome Danish Study-wide 40 G=0.65 A=0.35
Siberian Global Study-wide 18 G=0.44 A=0.56
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.18400593= NC_000008.11:g.18400593G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258103= NC_000008.10:g.18258103G>A
NAT2 RefSeqGene NG_012246.1:g.14349= NG_012246.1:g.14349G>A
NAT2 transcript NM_000015.3:c.590= NM_000015.3:c.590G>A
NAT2 transcript NM_000015.2:c.590= NM_000015.2:c.590G>A
NAT2 transcript variant X1 XM_017012938.1:c.590= XM_017012938.1:c.590G>A
arylamine N-acetyltransferase 2 NP_000006.2:p.Arg197= NP_000006.2:p.Arg197Gln
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Arg197= XP_016868427.1:p.Arg197Gln
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#.

150 SubSNP, 22 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2419981 Nov 14, 2000 (89)
2 SNP500CANCER ss5586800 Mar 31, 2003 (113)
3 RIKENSNPRC ss6311249 Feb 20, 2003 (113)
4 CSHL-HAPMAP ss17965718 Feb 27, 2004 (120)
5 PERLEGEN ss24664953 Sep 20, 2004 (123)
6 SEQUENOM ss24796684 Sep 20, 2004 (123)
7 MGC_GENOME_DIFF ss28510798 Sep 24, 2004 (126)
8 ABI ss44862213 Mar 10, 2006 (126)
9 AFFY ss66091678 Dec 01, 2006 (127)
10 PERLEGEN ss69042399 May 17, 2007 (127)
11 EGP_SNPS ss70456617 May 17, 2007 (127)
12 ILLUMINA ss74874164 Dec 07, 2007 (129)
13 AFFY ss76046502 Dec 07, 2007 (129)
14 CGM_KYOTO ss76869173 Dec 07, 2007 (129)
15 SI_EXO ss76890745 Dec 07, 2007 (129)
16 HGSV ss77501762 Dec 07, 2007 (129)
17 KRIBB_YJKIM ss81586788 Dec 16, 2007 (130)
18 HGSV ss83735970 Dec 15, 2007 (130)
19 CORNELL ss86238190 Mar 23, 2008 (129)
20 BCMHGSC_JDW ss93848830 Mar 25, 2008 (129)
21 SHGC ss99307908 Feb 06, 2009 (130)
22 BGI ss104510603 Dec 01, 2009 (131)
23 1000GENOMES ss112880886 Jan 25, 2009 (130)
24 1000GENOMES ss115075110 Jan 25, 2009 (130)
25 ILLUMINA-UK ss115861055 Feb 14, 2009 (130)
26 OMIM-CURATED-RECORDS ss140403746 Dec 01, 2009 (131)
27 ILLUMINA ss153736157 Dec 01, 2009 (131)
28 GMI ss156100871 Dec 01, 2009 (131)
29 ILLUMINA ss159329700 Dec 01, 2009 (131)
30 SEATTLESEQ ss159716515 Dec 01, 2009 (131)
31 ILLUMINA ss160462714 Dec 01, 2009 (131)
32 TOKAI-KISO ss161151849 Dec 01, 2009 (131)
33 ENSEMBL ss161626143 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss162207622 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss164094696 Jul 04, 2010 (132)
36 AFFY ss170793981 Jul 04, 2010 (132)
37 ILLUMINA ss172924248 Jul 04, 2010 (132)
38 1000GENOMES ss223576392 Jul 14, 2010 (132)
39 1000GENOMES ss234345864 Jul 15, 2010 (132)
40 1000GENOMES ss241221834 Jul 15, 2010 (132)
41 OMICIA ss244238722 May 27, 2010 (132)
42 ILLUMINA ss244284960 Jul 04, 2010 (132)
43 OMIM-CURATED-RECORDS ss252841660 Aug 12, 2010 (132)
44 BL ss254157065 May 09, 2011 (134)
45 GMI ss279717737 May 04, 2012 (137)
46 PJP ss294231047 May 09, 2011 (134)
47 NHLBI-ESP ss342253612 May 09, 2011 (134)
48 ILLUMINA ss410878055 Sep 17, 2011 (135)
49 ILLUMINA ss480300118 May 04, 2012 (137)
50 ILLUMINA ss480311209 May 04, 2012 (137)
51 ILLUMINA ss481066651 Sep 08, 2015 (146)
52 ILLUMINA ss484947870 May 04, 2012 (137)
53 1000GENOMES ss490960726 May 04, 2012 (137)
54 EXOME_CHIP ss491410763 May 04, 2012 (137)
55 CLINSEQ_SNP ss491921841 May 04, 2012 (137)
56 ILLUMINA ss536992203 Sep 08, 2015 (146)
57 TISHKOFF ss560588644 Apr 25, 2013 (138)
58 SSMP ss655024499 Apr 25, 2013 (138)
59 ILLUMINA ss778467743 Sep 08, 2015 (146)
60 ILLUMINA ss780867827 Sep 08, 2015 (146)
61 ILLUMINA ss782920243 Sep 08, 2015 (146)
62 ILLUMINA ss783552758 Sep 08, 2015 (146)
63 ILLUMINA ss783883284 Sep 08, 2015 (146)
64 ILLUMINA ss832175365 Sep 08, 2015 (146)
65 ILLUMINA ss832841709 Jul 13, 2019 (153)
66 ILLUMINA ss833923498 Sep 08, 2015 (146)
67 JMKIDD_LAB ss974467366 Aug 21, 2014 (142)
68 EVA-GONL ss985256284 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1067495865 Aug 21, 2014 (142)
70 JMKIDD_LAB ss1075326287 Aug 21, 2014 (142)
71 1000GENOMES ss1328853912 Aug 21, 2014 (142)
72 DDI ss1431436718 Apr 01, 2015 (144)
73 EVA_GENOME_DK ss1582586560 Apr 01, 2015 (144)
74 EVA_FINRISK ss1584057290 Apr 01, 2015 (144)
75 EVA_DECODE ss1594845140 Apr 01, 2015 (144)
76 EVA_UK10K_ALSPAC ss1620100542 Apr 01, 2015 (144)
77 EVA_UK10K_TWINSUK ss1663094575 Apr 01, 2015 (144)
78 EVA_EXAC ss1689107890 Apr 01, 2015 (144)
79 EVA_MGP ss1711194415 Apr 01, 2015 (144)
80 EVA_SVP ss1713019601 Apr 01, 2015 (144)
81 ILLUMINA ss1752722189 Sep 08, 2015 (146)
82 ILLUMINA ss1752722190 Sep 08, 2015 (146)
83 HAMMER_LAB ss1805425819 Sep 08, 2015 (146)
84 ILLUMINA ss1917826208 Feb 12, 2016 (147)
85 WEILL_CORNELL_DGM ss1928545817 Feb 12, 2016 (147)
86 ILLUMINA ss1946231114 Feb 12, 2016 (147)
87 ILLUMINA ss1959092409 Feb 12, 2016 (147)
88 GENOMED ss1970925401 Jul 19, 2016 (147)
89 JJLAB ss2024971341 Sep 14, 2016 (149)
90 USC_VALOUEV ss2153192870 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2301164560 Dec 20, 2016 (150)
92 TOPMED ss2470822157 Dec 20, 2016 (150)
93 ILLUMINA ss2634717907 Nov 08, 2017 (151)
94 ILLUMINA ss2634717908 Nov 08, 2017 (151)
95 GRF ss2708953253 Nov 08, 2017 (151)
96 ILLUMINA ss2711131676 Nov 08, 2017 (151)
97 GNOMAD ss2737016730 Nov 08, 2017 (151)
98 GNOMAD ss2748005950 Nov 08, 2017 (151)
99 GNOMAD ss2863932608 Nov 08, 2017 (151)
100 AFFY ss2985432616 Nov 08, 2017 (151)
101 AFFY ss2986074659 Nov 08, 2017 (151)
102 SWEGEN ss3002780528 Nov 08, 2017 (151)
103 ILLUMINA ss3022824458 Nov 08, 2017 (151)
104 EVA_SAMSUNG_MC ss3023063895 Nov 08, 2017 (151)
105 BIOINF_KMB_FNS_UNIBA ss3026276050 Nov 08, 2017 (151)
106 CSIRBIOHTS ss3029637979 Nov 08, 2017 (151)
107 CSHL ss3348074287 Nov 08, 2017 (151)
108 TOPMED ss3555514764 Nov 08, 2017 (151)
109 ILLUMINA ss3630009726 Oct 12, 2018 (152)
110 ILLUMINA ss3630009727 Oct 12, 2018 (152)
111 ILLUMINA ss3632618570 Oct 12, 2018 (152)
112 ILLUMINA ss3633492982 Oct 12, 2018 (152)
113 ILLUMINA ss3634219385 Oct 12, 2018 (152)
114 ILLUMINA ss3635161286 Oct 12, 2018 (152)
115 ILLUMINA ss3635161287 Oct 12, 2018 (152)
116 ILLUMINA ss3635898371 Oct 12, 2018 (152)
117 ILLUMINA ss3636898282 Oct 12, 2018 (152)
118 ILLUMINA ss3637651511 Oct 12, 2018 (152)
119 ILLUMINA ss3638747289 Oct 12, 2018 (152)
120 ILLUMINA ss3640868576 Oct 12, 2018 (152)
121 ILLUMINA ss3640868577 Oct 12, 2018 (152)
122 ILLUMINA ss3643679168 Oct 12, 2018 (152)
123 ILLUMINA ss3644964288 Oct 12, 2018 (152)
124 OMUKHERJEE_ADBS ss3646372877 Oct 12, 2018 (152)
125 ILLUMINA ss3653365288 Oct 12, 2018 (152)
126 ILLUMINA ss3654194407 Oct 12, 2018 (152)
127 EGCUT_WGS ss3670459165 Jul 13, 2019 (153)
128 EVA_DECODE ss3721526506 Jul 13, 2019 (153)
129 ILLUMINA ss3726518839 Jul 13, 2019 (153)
130 ACPOP ss3735453499 Jul 13, 2019 (153)
131 ILLUMINA ss3744577636 Jul 13, 2019 (153)
132 ILLUMINA ss3745461076 Jul 13, 2019 (153)
133 ILLUMINA ss3745461077 Jul 13, 2019 (153)
134 EVA ss3767698258 Jul 13, 2019 (153)
135 PAGE_CC ss3771427490 Jul 13, 2019 (153)
136 ILLUMINA ss3772953675 Jul 13, 2019 (153)
137 ILLUMINA ss3772953676 Jul 13, 2019 (153)
138 PACBIO ss3786082988 Jul 13, 2019 (153)
139 PACBIO ss3791349756 Jul 13, 2019 (153)
140 PACBIO ss3796230925 Jul 13, 2019 (153)
141 KHV_HUMAN_GENOMES ss3810861616 Jul 13, 2019 (153)
142 EVA ss3824350630 Apr 26, 2020 (154)
143 EVA ss3825525051 Apr 26, 2020 (154)
144 EVA ss3825540774 Apr 26, 2020 (154)
145 EVA ss3825736890 Apr 26, 2020 (154)
146 EVA ss3831046606 Apr 26, 2020 (154)
147 EVA ss3839033012 Apr 26, 2020 (154)
148 EVA ss3844490961 Apr 26, 2020 (154)
149 SGDP_PRJ ss3869405014 Apr 26, 2020 (154)
150 KRGDB ss3916829883 Apr 26, 2020 (154)
151 1000Genomes NC_000008.10 - 18258103 Oct 12, 2018 (152)
152 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18258103 Oct 12, 2018 (152)
153 Chileans NC_000008.10 - 18258103 Apr 26, 2020 (154)
154 Genetic variation in the Estonian population NC_000008.10 - 18258103 Oct 12, 2018 (152)
155 ExAC NC_000008.10 - 18258103 Oct 12, 2018 (152)
156 FINRISK NC_000008.10 - 18258103 Apr 26, 2020 (154)
157 The Danish reference pan genome NC_000008.10 - 18258103 Apr 26, 2020 (154)
158 gnomAD - Genomes NC_000008.10 - 18258103 Jul 13, 2019 (153)
159 gnomAD - Exomes NC_000008.10 - 18258103 Jul 13, 2019 (153)
160 Genome of the Netherlands Release 5 NC_000008.10 - 18258103 Apr 26, 2020 (154)
161 HapMap NC_000008.11 - 18400593 Apr 26, 2020 (154)
162 KOREAN population from KRGDB NC_000008.10 - 18258103 Apr 26, 2020 (154)
163 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18258103 Apr 26, 2020 (154)
164 Northern Sweden NC_000008.10 - 18258103 Jul 13, 2019 (153)
165 The PAGE Study NC_000008.11 - 18400593 Jul 13, 2019 (153)
166 Qatari NC_000008.10 - 18258103 Apr 26, 2020 (154)
167 SGDP_PRJ NC_000008.10 - 18258103 Apr 26, 2020 (154)
168 Siberian NC_000008.10 - 18258103 Apr 26, 2020 (154)
169 TopMed NC_000008.11 - 18400593 Oct 12, 2018 (152)
170 UK 10K study - Twins NC_000008.10 - 18258103 Oct 12, 2018 (152)
171 A Vietnamese Genetic Variation Database NC_000008.10 - 18258103 Jul 13, 2019 (153)
172 dbGaP Population Frequency Project NC_000008.11 - 18400593 Apr 26, 2020 (154)
173 ClinVar RCV000000758.1 Oct 12, 2018 (152)
174 ClinVar RCV000417141.1 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)
rs4646269 Mar 31, 2003 (113)
rs17517027 Oct 08, 2004 (123)
rs17856496 Mar 10, 2006 (126)
rs60190029 May 25, 2008 (130)
rs61467963 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66091678, ss76046502, ss77501762, ss83735970, ss93848830, ss112880886, ss115075110, ss115861055, ss162207622, ss164094696, ss170793981, ss254157065, ss279717737, ss294231047, ss480300118, ss491921841, ss1594845140, ss1713019601, ss3643679168 NC_000008.9:18302382:G:A NC_000008.11:18400592:G:A (self)
40947094, 22761472, 429211, 16197413, 9201249, 53751, 8751498, 111847186, 6184674, 10170877, 24007277, 310175, 8738364, 10587747, 21421994, 5709224, 22761472, 5074607, ss223576392, ss234345864, ss241221834, ss342253612, ss480311209, ss481066651, ss484947870, ss490960726, ss491410763, ss536992203, ss560588644, ss655024499, ss778467743, ss780867827, ss782920243, ss783552758, ss783883284, ss832175365, ss832841709, ss833923498, ss974467366, ss985256284, ss1067495865, ss1075326287, ss1328853912, ss1431436718, ss1582586560, ss1584057290, ss1620100542, ss1663094575, ss1689107890, ss1711194415, ss1752722189, ss1752722190, ss1805425819, ss1917826208, ss1928545817, ss1946231114, ss1959092409, ss1970925401, ss2024971341, ss2153192870, ss2470822157, ss2634717907, ss2634717908, ss2708953253, ss2711131676, ss2737016730, ss2748005950, ss2863932608, ss2985432616, ss2986074659, ss3002780528, ss3022824458, ss3023063895, ss3029637979, ss3348074287, ss3630009726, ss3630009727, ss3632618570, ss3633492982, ss3634219385, ss3635161286, ss3635161287, ss3635898371, ss3636898282, ss3637651511, ss3638747289, ss3640868576, ss3640868577, ss3644964288, ss3646372877, ss3653365288, ss3654194407, ss3670459165, ss3735453499, ss3744577636, ss3745461076, ss3745461077, ss3767698258, ss3772953675, ss3772953676, ss3786082988, ss3791349756, ss3796230925, ss3824350630, ss3825525051, ss3825540774, ss3825736890, ss3831046606, ss3839033012, ss3869405014, ss3916829883 NC_000008.10:18258102:G:A NC_000008.11:18400592:G:A (self)
RCV000000758.1, RCV000417141.1, 3577450, 648959, 384382891, 696282892, ss140403746, ss244238722, ss252841660, ss2301164560, ss3026276050, ss3555514764, ss3721526506, ss3726518839, ss3771427490, ss3810861616, ss3844490961 NC_000008.11:18400592:G:A NC_000008.11:18400592:G:A (self)
ss17965718 NT_030737.8:6069023:G:A NC_000008.11:18400592:G:A (self)
ss76890745 NT_030737.9:6103030:G:A NC_000008.11:18400592:G:A (self)
ss2419981, ss5586800, ss6311249, ss24664953, ss24796684, ss28510798, ss44862213, ss69042399, ss70456617, ss74874164, ss76869173, ss81586788, ss86238190, ss99307908, ss104510603, ss153736157, ss156100871, ss159329700, ss159716515, ss160462714, ss161151849, ss161626143, ss172924248, ss244284960, ss410878055 NT_167187.1:6116248:G:A NC_000008.11:18400592:G:A (self)
Help

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

120 citations for rs1799930
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
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
17160896 Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Shi M et al. 2007 American journal of human genetics
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
18252219 A powerful and flexible multilocus association test for quantitative traits. Kwee LC et al. 2008 American 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
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
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
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
19390575 Lung cancer susceptibility model based on age, family history and genetic variants. Young RP et al. 2009 PloS one
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
19891553 Genetic polymorphisms of drug-metabolizing enzymes and anti-TB drug-induced hepatitis. Kim SH et al. 2009 Pharmacogenomics
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
20180013 Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women. Sangrajrang S et al. 2010 Breast cancer research and treatment
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
20641098 Caffeine, selected metabolic gene variants, and risk for neural tube defects. Schmidt RJ et al. 2010 Birth defects research. Part A, Clinical and molecular teratology
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
21324488 Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer. Campayo M et al. 2011 The Journal of surgical research
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
21684175 alcohol, smoking, and caffeine in relation to fecundability, with effect modification by NAT2. Taylor KC et al. 2011 Annals of epidemiology
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
21856096 Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatotoxicity in Tunisian patients with tuberculosis. Ben Mahmoud L et al. 2012 Pathologie-biologie
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
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
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
22547312 Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study. Matsuzaka Y et al. 2012 Environmental health and preventive medicine
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
22701660 Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin. Wei H et al. 2012 PloS one
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
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
22994552 Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study. Lupo PJ et al. 2012 Pediatric hematology and oncology
23015320 Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. Fu Z et al. 2012 The American journal of clinical nutrition
23072573 Multiplex allele-specific amplification from whole blood for detecting multiple polymorphisms simultaneously. Zhu J et al. 2013 Genetic testing and molecular biomarkers
23139751 Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. Rodriguez-Flores JL et al. 2012 PloS one
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
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
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
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25005845 N-Acetyltransferase 2 (NAT2) gene polymorphism and exposure to smoking in lung cancer of Chinese males. Tian F et al. 2014 Medical oncology (Northwood, London, England)
25155015 No association between apolipoprotein E or N-acetyltransferase 2 gene polymorphisms and age-related hearing loss. Dawes P et al. 2015 The Laryngoscope
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
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
25887915 Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. Ilyas M et al. 2015 BMC genomics
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
26572891 The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women. Kakkoura MG et al. 2017 European journal of nutrition
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
27121382 Incorporating epistasis interaction of genetic susceptibility single nucleotide polymorphisms in a lung cancer risk prediction model. Marcus MW et al. 2016 International journal of oncology
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
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
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
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
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
28870161 Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review. Constantinescu SM et al. 2017 BMC nephrology
29049179 Genetic polymorphisms of NAT2 and risk of acute myeloid leukemia: A case-control study. Zou Y et al. 2017 Medicine
29303622 Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. Kamble PG et al. 2017 Upsala journal of medical sciences
29371971 Association between the <i>PINX1</i> and <i>NAT2</i> polymorphisms and serum lipid levels. Zhang QH et al. 2017 Oncotarget
29455378 Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations. Matyas P et al. 2019 Pathology oncology research
29505746 Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects. Trang NT et al. 2018 Chemico-biological interactions
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
30779340 The Influence of Pharmacogenetic Variants in HIV/Tuberculosis Coinfected Patients in Uganda in the SOUTH Study. Calcagno A et al. 2019 Clinical pharmacology and therapeutics
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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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).
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