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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.

rs1799929

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400484 (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=0.361278 (90469/250414, GnomAD_exome)
T=0.416553 (80898/194208, ALFA Project)
T=0.341385 (42867/125568, TOPMED) (+ 21 more)
T=0.364034 (44062/121038, ExAC)
T=0.26542 (20888/78698, PAGE_STUDY)
T=0.36123 (11305/31296, GnomAD)
T=0.37098 (4825/13006, GO-ESP)
T=0.2680 (1342/5008, 1000G)
T=0.4446 (1992/4480, Estonian)
T=0.4250 (1638/3854, ALSPAC)
T=0.4342 (1610/3708, TWINSUK)
T=0.0205 (60/2922, KOREAN)
T=0.2783 (522/1876, HapMap)
T=0.0191 (35/1832, Korea1K)
T=0.441 (440/998, GoNL)
T=0.359 (225/626, Chileans)
T=0.067 (41/616, Vietnamese)
T=0.468 (281/600, NorthernSweden)
T=0.446 (238/534, MGP)
T=0.447 (136/304, FINRISK)
C=0.389 (95/244, SGDP_PRJ)
T=0.454 (98/216, Qatari)
C=0.39 (17/44, Siberian)
T=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Synonymous Variant
Publications
67 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.18400484C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257994C>T
NAT2 RefSeqGene NG_012246.1:g.14240C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.481C>T L [CTG] > L [TTG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Leu161= L (Leu) > L (Leu) Synonymous Variant
NAT2 transcript variant X1 XM_017012938.1:c.481C>T L [CTG] > L [TTG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Leu161= L (Leu) > L (Leu) 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.

Not Reported in ClinVar

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 381972 C=0.587745 T=0.412255
European Sub 323594 C=0.566108 T=0.433892
African Sub 11964 C=0.73596 T=0.26404
African Others Sub 420 C=0.812 T=0.188
African American Sub 11544 C=0.73319 T=0.26681
Asian Sub 7030 C=0.9707 T=0.0293
East Asian Sub 5030 C=0.9730 T=0.0270
Other Asian Sub 2000 C=0.9650 T=0.0350
Latin American 1 Sub 1634 C=0.6040 T=0.3960
Latin American 2 Sub 9406 C=0.6841 T=0.3159
South Asian Sub 5238 C=0.6840 T=0.3160
Other Sub 23106 C=0.63529 T=0.36471


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 250414 C=0.638722 T=0.361278
gnomAD - Exomes European Sub 134824 C=0.562252 T=0.437748
gnomAD - Exomes Asian Sub 48930 C=0.79187 T=0.20813
gnomAD - Exomes American Sub 34404 C=0.70082 T=0.29918
gnomAD - Exomes African Sub 16116 C=0.74324 T=0.25676
gnomAD - Exomes Ashkenazi Jewish Sub 10040 C=0.56056 T=0.43944
gnomAD - Exomes Other Sub 6100 C=0.6028 T=0.3972
ALFA Total Global 194208 C=0.583447 T=0.416553
ALFA European Sub 162234 C=0.565862 T=0.434138
ALFA Other Sub 10944 C=0.61093 T=0.38907
ALFA Latin American 2 Sub 7602 C=0.6873 T=0.3127
ALFA African Sub 7328 C=0.7288 T=0.2712
ALFA South Asian Sub 4918 C=0.6824 T=0.3176
ALFA Latin American 1 Sub 708 C=0.624 T=0.376
ALFA Asian Sub 474 C=0.966 T=0.034
TopMed Global Study-wide 125568 C=0.658615 T=0.341385
ExAC Global Study-wide 121038 C=0.635966 T=0.364034
ExAC Europe Sub 73262 C=0.56110 T=0.43890
ExAC Asian Sub 25150 C=0.78087 T=0.21913
ExAC American Sub 11482 C=0.70179 T=0.29821
ExAC African Sub 10236 C=0.74482 T=0.25518
ExAC Other Sub 908 C=0.604 T=0.396
The PAGE Study Global Study-wide 78698 C=0.73458 T=0.26542
The PAGE Study AfricanAmerican Sub 32514 C=0.73313 T=0.26687
The PAGE Study Mexican Sub 10810 C=0.68788 T=0.31212
The PAGE Study Asian Sub 8318 C=0.9767 T=0.0233
The PAGE Study PuertoRican Sub 7916 C=0.6343 T=0.3657
The PAGE Study NativeHawaiian Sub 4534 C=0.8685 T=0.1315
The PAGE Study Cuban Sub 4230 C=0.5894 T=0.4106
The PAGE Study Dominican Sub 3828 C=0.6405 T=0.3595
The PAGE Study CentralAmerican Sub 2450 C=0.7155 T=0.2845
The PAGE Study SouthAmerican Sub 1982 C=0.6937 T=0.3063
The PAGE Study NativeAmerican Sub 1260 C=0.6270 T=0.3730
The PAGE Study SouthAsian Sub 856 C=0.690 T=0.310
gnomAD - Genomes Global Study-wide 31296 C=0.63877 T=0.36123
gnomAD - Genomes European Sub 18844 C=0.56379 T=0.43621
gnomAD - Genomes African Sub 8680 C=0.7478 T=0.2522
gnomAD - Genomes East Asian Sub 1554 C=0.9640 T=0.0360
gnomAD - Genomes Other Sub 1082 C=0.5943 T=0.4057
gnomAD - Genomes American Sub 846 C=0.668 T=0.332
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.586 T=0.414
GO Exome Sequencing Project Global Study-wide 13006 C=0.62902 T=0.37098
GO Exome Sequencing Project European American Sub 8600 C=0.5690 T=0.4310
GO Exome Sequencing Project African American Sub 4406 C=0.7463 T=0.2537
1000Genomes Global Study-wide 5008 C=0.7320 T=0.2680
1000Genomes African Sub 1322 C=0.7625 T=0.2375
1000Genomes East Asian Sub 1008 C=0.9633 T=0.0367
1000Genomes Europe Sub 1006 C=0.5646 T=0.4354
1000Genomes South Asian Sub 978 C=0.679 T=0.321
1000Genomes American Sub 694 C=0.656 T=0.344
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5554 T=0.4446
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5750 T=0.4250
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5658 T=0.4342
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9795 T=0.0205
HapMap Global Study-wide 1876 C=0.7217 T=0.2783
HapMap American Sub 764 C=0.717 T=0.283
HapMap African Sub 684 C=0.678 T=0.322
HapMap Asian Sub 254 C=0.972 T=0.028
HapMap Europe Sub 174 C=0.546 T=0.454
Korean Genome Project KOREAN Study-wide 1832 C=0.9809 T=0.0191
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.559 T=0.441
Chileans Chilean Study-wide 626 C=0.641 T=0.359
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.933 T=0.067
Northern Sweden ACPOP Study-wide 600 C=0.532 T=0.468
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.554 T=0.446
FINRISK Finnish from FINRISK project Study-wide 304 C=0.553 T=0.447
SGDP_PRJ Global Study-wide 244 C=0.389 T=0.611
Qatari Global Study-wide 216 C=0.546 T=0.454
Siberian Global Study-wide 44 C=0.39 T=0.61
The Danish reference pan genome Danish Study-wide 40 C=0.57 T=0.42
Help

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

Placement C= T
GRCh38.p12 chr 8 NC_000008.11:g.18400484= NC_000008.11:g.18400484C>T
GRCh37.p13 chr 8 NC_000008.10:g.18257994= NC_000008.10:g.18257994C>T
NAT2 RefSeqGene NG_012246.1:g.14240= NG_012246.1:g.14240C>T
NAT2 transcript NM_000015.3:c.481= NM_000015.3:c.481C>T
NAT2 transcript NM_000015.2:c.481= NM_000015.2:c.481C>T
NAT2 transcript variant X1 XM_017012938.1:c.481= XM_017012938.1:c.481C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Leu161= NP_000006.2:p.Leu161=
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Leu161= XP_016868427.1:p.Leu161=
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#.

136 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2419980 Nov 14, 2000 (89)
2 SNP500CANCER ss5586799 Jul 02, 2003 (116)
3 RIKENSNPRC ss6311248 Feb 20, 2003 (113)
4 PERLEGEN ss24664950 Sep 20, 2004 (123)
5 ABI ss44919783 Mar 13, 2006 (126)
6 ILLUMINA ss65740993 Oct 16, 2006 (127)
7 AFFY ss66185038 Dec 02, 2006 (127)
8 EGP_SNPS ss66858969 Dec 02, 2006 (127)
9 EGP_SNPS ss70456616 May 18, 2007 (127)
10 ILLUMINA ss74879481 Dec 07, 2007 (129)
11 AFFY ss76254461 Dec 07, 2007 (129)
12 CGM_KYOTO ss76869172 Dec 07, 2007 (129)
13 HGSV ss78682669 Dec 07, 2007 (129)
14 HGSV ss80929608 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss81586782 Dec 15, 2007 (130)
16 CORNELL ss86238191 Mar 23, 2008 (129)
17 HUMANGENOME_JCVI ss98055195 Feb 06, 2009 (130)
18 SHGC ss99307907 Feb 06, 2009 (130)
19 1000GENOMES ss112880883 Jan 25, 2009 (130)
20 ILLUMINA-UK ss115861054 Feb 14, 2009 (130)
21 ENSEMBL ss143118530 Dec 01, 2009 (131)
22 ILLUMINA ss153736152 Dec 01, 2009 (131)
23 ILLUMINA ss159329699 Dec 01, 2009 (131)
24 SEATTLESEQ ss159716514 Dec 01, 2009 (131)
25 ILLUMINA ss160462712 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss166321082 Jul 04, 2010 (132)
27 ILLUMINA ss172924244 Jul 04, 2010 (132)
28 AFFY ss172990869 Jul 04, 2010 (132)
29 BUSHMAN ss198867406 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss208606738 Jul 04, 2010 (132)
31 1000GENOMES ss223576390 Jul 14, 2010 (132)
32 1000GENOMES ss234345863 Jul 15, 2010 (132)
33 1000GENOMES ss241221833 Jul 15, 2010 (132)
34 GMI ss279717736 May 04, 2012 (137)
35 GMI ss285804792 Apr 25, 2013 (138)
36 PJP ss294231046 May 09, 2011 (134)
37 NHLBI-ESP ss342253608 May 09, 2011 (134)
38 ILLUMINA ss410878053 Sep 17, 2011 (135)
39 ILLUMINA ss480300110 May 04, 2012 (137)
40 ILLUMINA ss480311201 May 04, 2012 (137)
41 ILLUMINA ss481066643 Sep 08, 2015 (146)
42 ILLUMINA ss484947866 May 04, 2012 (137)
43 1000GENOMES ss490960722 May 04, 2012 (137)
44 EXOME_CHIP ss491410760 May 04, 2012 (137)
45 CLINSEQ_SNP ss491921839 May 04, 2012 (137)
46 ILLUMINA ss536992201 Sep 08, 2015 (146)
47 TISHKOFF ss560588642 Apr 25, 2013 (138)
48 SSMP ss655024498 Apr 25, 2013 (138)
49 ILLUMINA ss778841464 Sep 08, 2015 (146)
50 ILLUMINA ss780682569 Sep 08, 2015 (146)
51 ILLUMINA ss782920241 Sep 08, 2015 (146)
52 ILLUMINA ss783355923 Sep 08, 2015 (146)
53 ILLUMINA ss783883282 Sep 08, 2015 (146)
54 ILLUMINA ss832175363 Sep 08, 2015 (146)
55 ILLUMINA ss832841708 Jul 13, 2019 (153)
56 ILLUMINA ss834302021 Sep 08, 2015 (146)
57 JMKIDD_LAB ss974467365 Aug 21, 2014 (142)
58 EVA-GONL ss985256283 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067495863 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1075326285 Aug 21, 2014 (142)
61 1000GENOMES ss1328853904 Aug 21, 2014 (142)
62 DDI ss1431436717 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1582586559 Apr 01, 2015 (144)
64 EVA_FINRISK ss1584057288 Apr 01, 2015 (144)
65 EVA_DECODE ss1594845138 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1620100540 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1663094573 Apr 01, 2015 (144)
68 EVA_EXAC ss1689107869 Apr 01, 2015 (144)
69 EVA_MGP ss1711194414 Apr 01, 2015 (144)
70 EVA_SVP ss1713019600 Apr 01, 2015 (144)
71 ILLUMINA ss1752722186 Sep 08, 2015 (146)
72 ILLUMINA ss1752722187 Sep 08, 2015 (146)
73 ILLUMINA ss1917826206 Feb 12, 2016 (147)
74 WEILL_CORNELL_DGM ss1928545815 Feb 12, 2016 (147)
75 ILLUMINA ss1946231110 Feb 12, 2016 (147)
76 ILLUMINA ss1959092404 Feb 12, 2016 (147)
77 AMU ss1966657100 Feb 12, 2016 (147)
78 GENOMED ss1970925400 Jul 19, 2016 (147)
79 JJLAB ss2024971339 Sep 14, 2016 (149)
80 USC_VALOUEV ss2153192869 Dec 20, 2016 (150)
81 HUMAN_LONGEVITY ss2301164555 Dec 20, 2016 (150)
82 TOPMED ss2470822147 Dec 20, 2016 (150)
83 ILLUMINA ss2634717903 Nov 08, 2017 (151)
84 ILLUMINA ss2634717904 Nov 08, 2017 (151)
85 GRF ss2708953252 Nov 08, 2017 (151)
86 ILLUMINA ss2711131673 Nov 08, 2017 (151)
87 GNOMAD ss2737016702 Nov 08, 2017 (151)
88 GNOMAD ss2748005938 Nov 08, 2017 (151)
89 GNOMAD ss2863932596 Nov 08, 2017 (151)
90 AFFY ss2985432614 Nov 08, 2017 (151)
91 AFFY ss2986074657 Nov 08, 2017 (151)
92 SWEGEN ss3002780526 Nov 08, 2017 (151)
93 ILLUMINA ss3022824454 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3026276049 Nov 08, 2017 (151)
95 CSIRBIOHTS ss3029637978 Nov 08, 2017 (151)
96 CSHL ss3348074286 Nov 08, 2017 (151)
97 TOPMED ss3555514744 Nov 08, 2017 (151)
98 ILLUMINA ss3630009721 Oct 12, 2018 (152)
99 ILLUMINA ss3630009722 Oct 12, 2018 (152)
100 ILLUMINA ss3632618568 Oct 12, 2018 (152)
101 ILLUMINA ss3633492981 Oct 12, 2018 (152)
102 ILLUMINA ss3634219384 Oct 12, 2018 (152)
103 ILLUMINA ss3635161282 Oct 12, 2018 (152)
104 ILLUMINA ss3635161283 Oct 12, 2018 (152)
105 ILLUMINA ss3635898370 Oct 12, 2018 (152)
106 ILLUMINA ss3636898281 Oct 12, 2018 (152)
107 ILLUMINA ss3637651510 Oct 12, 2018 (152)
108 ILLUMINA ss3638747288 Oct 12, 2018 (152)
109 ILLUMINA ss3640868572 Oct 12, 2018 (152)
110 ILLUMINA ss3640868573 Oct 12, 2018 (152)
111 ILLUMINA ss3643679167 Oct 12, 2018 (152)
112 ILLUMINA ss3644964284 Oct 12, 2018 (152)
113 OMUKHERJEE_ADBS ss3646372876 Oct 12, 2018 (152)
114 URBANLAB ss3648864871 Oct 12, 2018 (152)
115 ILLUMINA ss3653365284 Oct 12, 2018 (152)
116 ILLUMINA ss3654194405 Oct 12, 2018 (152)
117 EGCUT_WGS ss3670459161 Jul 13, 2019 (153)
118 EVA_DECODE ss3721526504 Jul 13, 2019 (153)
119 ILLUMINA ss3726518836 Jul 13, 2019 (153)
120 ACPOP ss3735453497 Jul 13, 2019 (153)
121 ILLUMINA ss3744577634 Jul 13, 2019 (153)
122 ILLUMINA ss3745461072 Jul 13, 2019 (153)
123 ILLUMINA ss3745461073 Jul 13, 2019 (153)
124 EVA ss3767698254 Jul 13, 2019 (153)
125 PAGE_CC ss3771427487 Jul 13, 2019 (153)
126 ILLUMINA ss3772953672 Jul 13, 2019 (153)
127 ILLUMINA ss3772953673 Jul 13, 2019 (153)
128 KHV_HUMAN_GENOMES ss3810861614 Jul 13, 2019 (153)
129 EVA ss3824350624 Apr 26, 2020 (154)
130 EVA ss3825736888 Apr 26, 2020 (154)
131 EVA ss3831046605 Apr 26, 2020 (154)
132 EVA ss3839033011 Apr 26, 2020 (154)
133 EVA ss3844490960 Apr 26, 2020 (154)
134 SGDP_PRJ ss3869405010 Apr 26, 2020 (154)
135 KRGDB ss3916829880 Apr 26, 2020 (154)
136 KOGIC ss3963375448 Apr 26, 2020 (154)
137 1000Genomes NC_000008.10 - 18257994 Oct 12, 2018 (152)
138 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18257994 Oct 12, 2018 (152)
139 Chileans NC_000008.10 - 18257994 Apr 26, 2020 (154)
140 Genetic variation in the Estonian population NC_000008.10 - 18257994 Oct 12, 2018 (152)
141 ExAC NC_000008.10 - 18257994 Oct 12, 2018 (152)
142 FINRISK NC_000008.10 - 18257994 Apr 26, 2020 (154)
143 The Danish reference pan genome NC_000008.10 - 18257994 Apr 26, 2020 (154)
144 gnomAD - Genomes NC_000008.10 - 18257994 Jul 13, 2019 (153)
145 gnomAD - Exomes NC_000008.10 - 18257994 Jul 13, 2019 (153)
146 GO Exome Sequencing Project NC_000008.10 - 18257994 Oct 12, 2018 (152)
147 Genome of the Netherlands Release 5 NC_000008.10 - 18257994 Apr 26, 2020 (154)
148 HapMap NC_000008.11 - 18400484 Apr 26, 2020 (154)
149 KOREAN population from KRGDB NC_000008.10 - 18257994 Apr 26, 2020 (154)
150 Korean Genome Project NC_000008.11 - 18400484 Apr 26, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18257994 Apr 26, 2020 (154)
152 Northern Sweden NC_000008.10 - 18257994 Jul 13, 2019 (153)
153 The PAGE Study NC_000008.11 - 18400484 Jul 13, 2019 (153)
154 Qatari NC_000008.10 - 18257994 Apr 26, 2020 (154)
155 SGDP_PRJ NC_000008.10 - 18257994 Apr 26, 2020 (154)
156 Siberian NC_000008.10 - 18257994 Apr 26, 2020 (154)
157 TopMed NC_000008.11 - 18400484 Oct 12, 2018 (152)
158 UK 10K study - Twins NC_000008.10 - 18257994 Oct 12, 2018 (152)
159 A Vietnamese Genetic Variation Database NC_000008.10 - 18257994 Jul 13, 2019 (153)
160 dbGaP Population Frequency Project NC_000008.11 - 18400484 Apr 26, 2020 (154)
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)
rs4646268 Mar 31, 2003 (113)
rs17595342 Oct 08, 2004 (123)
rs58882350 Feb 27, 2009 (130)
rs60310310 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78682669, ss80929608, ss112880883, ss115861054, ss166321082, ss198867406, ss208606738, ss279717736, ss285804792, ss294231046, ss480300110, ss491921839, ss1594845138, ss1713019600, ss3643679167 NC_000008.9:18302273:C:T NC_000008.11:18400483:C:T (self)
40947086, 22761470, 429210, 16197409, 9201227, 53749, 8751497, 111847174, 6184639, 808483, 10170876, 24007274, 310174, 8738362, 10587745, 21421990, 5709223, 22761470, 5074606, ss223576390, ss234345863, ss241221833, ss342253608, ss480311201, ss481066643, ss484947866, ss490960722, ss491410760, ss536992201, ss560588642, ss655024498, ss778841464, ss780682569, ss782920241, ss783355923, ss783883282, ss832175363, ss832841708, ss834302021, ss974467365, ss985256283, ss1067495863, ss1075326285, ss1328853904, ss1431436717, ss1582586559, ss1584057288, ss1620100540, ss1663094573, ss1689107869, ss1711194414, ss1752722186, ss1752722187, ss1917826206, ss1928545815, ss1946231110, ss1959092404, ss1966657100, ss1970925400, ss2024971339, ss2153192869, ss2470822147, ss2634717903, ss2634717904, ss2708953252, ss2711131673, ss2737016702, ss2748005938, ss2863932596, ss2985432614, ss2986074657, ss3002780526, ss3022824454, ss3029637978, ss3348074286, ss3630009721, ss3630009722, ss3632618568, ss3633492981, ss3634219384, ss3635161282, ss3635161283, ss3635898370, ss3636898281, ss3637651510, ss3638747288, ss3640868572, ss3640868573, ss3644964284, ss3646372876, ss3653365284, ss3654194405, ss3670459161, ss3735453497, ss3744577634, ss3745461072, ss3745461073, ss3767698254, ss3772953672, ss3772953673, ss3824350624, ss3825736888, ss3831046605, ss3839033011, ss3869405010, ss3916829880 NC_000008.10:18257993:C:T NC_000008.11:18400483:C:T (self)
3577449, 19753449, 648956, 384382876, 265357069, ss2301164555, ss3026276049, ss3555514744, ss3648864871, ss3721526504, ss3726518836, ss3771427487, ss3810861614, ss3844490960, ss3963375448 NC_000008.11:18400483:C:T NC_000008.11:18400483:C:T (self)
ss2419980, ss5586799, ss6311248, ss24664950, ss44919783, ss65740993, ss66185038, ss66858969, ss70456616, ss74879481, ss76254461, ss76869172, ss81586782, ss86238191, ss98055195, ss99307907, ss143118530, ss153736152, ss159329699, ss159716514, ss160462712, ss172924244, ss172990869, ss410878053 NT_167187.1:6116139:C:T NC_000008.11:18400483: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.

67 citations for rs1799929
PMID Title Author Year Journal
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
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
18664443 Unraveling ambiguous NAT2 genotyping data. Agúndez JA et al. 2008 Clinical chemistry
18680467 Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Walraven JM et al. 2008 Current drug metabolism
18773084 Multiple advantageous amino acid variants in the NAT2 gene in human populations. Luca F et al. 2008 PloS one
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
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
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
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
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
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
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
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
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
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
25069476 Clinical and pharmacogenomic implications of genetic variation in a Southern Ethiopian population. Tekola-Ayele F et al. 2015 The pharmacogenomics journal
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
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
28028995 Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. Choi R et al. 2017 Annals of laboratory medicine
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
28906376 Nucleotide variants of the NAT2 and EGF61 genes in patients in Northern China with nonsyndromic cleft lip with or without cleft palate. Yan J et al. 2017 Medicine
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
30452466 Characterization of ADME genes variation in Roma and 20 populations worldwide. Škarić-Jurić T et al. 2018 PloS one
30531039 Polymorphisms of NAT2, CYP2E1, GST, and HLA related to drug-induced liver injury in indonesian tuberculosis patients. Perwitasari DA et al. 2018 International journal of mycobacteriology
30896661 Association between NAT2 polymorphisms and acute leukemia risk: A meta-analysis. Zhu X et al. 2019 Medicine
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