dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1041983
Current Build 154
Released April 21, 2020
- Organism
- Homo sapiens
- Position
-
chr8:18400285 (GRCh38.p12) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.341977 (85599/250306, GnomAD_exome)T=0.325830 (41426/127140, ALFA Project)T=0.363604 (45657/125568, TOPMED) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- NAT2 : Synonymous Variant
- Publications
- 72 citations
- Genomic View
- See rs on genome
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p12 chr 8 | NC_000008.11:g.18400285C>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18257795C>T |
| NAT2 RefSeqGene | NG_012246.1:g.14041C>T |
Gene: NAT2, N-acetyltransferase 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NAT2 transcript | NM_000015.3:c.282C>T | Y [TAC] > Y [TAT] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Tyr94= | Y (Tyr) > Y (Tyr) | Synonymous Variant |
| NAT2 transcript variant X1 | XM_017012938.1:c.282C>T | Y [TAC] > Y [TAT] | Coding Sequence Variant |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Tyr94= | Y (Tyr) > Y (Tyr) | Synonymous Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
362499
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000417176.1 | ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR | Drug-Response |
ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20201027095038
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 307984 | C=0.674405 | T=0.325595 |
| European | Sub | 271022 | C=0.681779 | T=0.318221 |
| African | Sub | 8946 | C=0.5589 | T=0.4411 |
| African Others | Sub | 324 | C=0.509 | T=0.491 |
| African American | Sub | 8622 | C=0.5608 | T=0.4392 |
| Asian | Sub | 3962 | C=0.6239 | T=0.3761 |
| East Asian | Sub | 3186 | C=0.6365 | T=0.3635 |
| Other Asian | Sub | 776 | C=0.572 | T=0.428 |
| Latin American 1 | Sub | 1428 | C=0.6555 | T=0.3445 |
| Latin American 2 | Sub | 3176 | C=0.6855 | T=0.3145 |
| South Asian | Sub | 5218 | C=0.5749 | T=0.4251 |
| Other | Sub | 14232 | C=0.65655 | T=0.34345 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 250306 | C=0.658023 | T=0.341977 |
| gnomAD - Exomes | European | Sub | 134768 | C=0.692946 | T=0.307054 |
| gnomAD - Exomes | Asian | Sub | 48810 | C=0.57535 | T=0.42465 |
| gnomAD - Exomes | American | Sub | 34424 | C=0.69565 | T=0.30435 |
| gnomAD - Exomes | African | Sub | 16238 | C=0.55099 | T=0.44901 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9984 | C=0.6279 | T=0.3721 |
| gnomAD - Exomes | Other | Sub | 6082 | C=0.6698 | T=0.3302 |
| ALFA | Total | Global | 127140 | C=0.674170 | T=0.325830 |
| ALFA | European | Sub | 111532 | C=0.683481 | T=0.316519 |
| ALFA | South Asian | Sub | 4894 | C=0.5766 | T=0.4234 |
| ALFA | Other | Sub | 4638 | C=0.6412 | T=0.3588 |
| ALFA | African | Sub | 3884 | C=0.5749 | T=0.4251 |
| ALFA | Latin American 2 | Sub | 1372 | C=0.6924 | T=0.3076 |
| ALFA | Latin American 1 | Sub | 502 | C=0.645 | T=0.355 |
| ALFA | Asian | Sub | 318 | C=0.569 | T=0.431 |
| TopMed | Global | Study-wide | 125568 | C=0.636396 | T=0.363604 |
| ExAC | Global | Study-wide | 121088 | C=0.655110 | T=0.344890 |
| ExAC | Europe | Sub | 73224 | C=0.68934 | T=0.31066 |
| ExAC | Asian | Sub | 25030 | C=0.57767 | T=0.42233 |
| ExAC | American | Sub | 11532 | C=0.70335 | T=0.29665 |
| ExAC | African | Sub | 10398 | C=0.54530 | T=0.45470 |
| ExAC | Other | Sub | 904 | C=0.675 | T=0.325 |
| gnomAD - Genomes | Global | Study-wide | 31298 | C=0.64375 | T=0.35625 |
| gnomAD - Genomes | European | Sub | 18856 | C=0.69050 | T=0.30950 |
| gnomAD - Genomes | African | Sub | 8678 | C=0.5444 | T=0.4556 |
| gnomAD - Genomes | East Asian | Sub | 1548 | C=0.5743 | T=0.4257 |
| gnomAD - Genomes | Other | Sub | 1084 | C=0.6827 | T=0.3173 |
| gnomAD - Genomes | American | Sub | 844 | C=0.710 | T=0.290 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 288 | C=0.611 | T=0.389 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.64263 | T=0.35737 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.6864 | T=0.3136 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.5572 | T=0.4428 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.6026 | T=0.3974 |
| 1000Genomes | African | Sub | 1322 | C=0.5318 | T=0.4682 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.5605 | T=0.4395 |
| 1000Genomes | Europe | Sub | 1006 | C=0.6948 | T=0.3052 |
| 1000Genomes | South Asian | Sub | 978 | C=0.572 | T=0.428 |
| 1000Genomes | American | Sub | 694 | C=0.709 | T=0.291 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.6875 | T=0.3125 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.6772 | T=0.3228 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.6850 | T=0.3150 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.6713 | T=0.3287 |
| HapMap | Global | Study-wide | 1886 | C=0.6098 | T=0.3902 |
| HapMap | American | Sub | 766 | C=0.637 | T=0.363 |
| HapMap | African | Sub | 692 | C=0.545 | T=0.455 |
| HapMap | Asian | Sub | 252 | C=0.643 | T=0.357 |
| HapMap | Europe | Sub | 176 | C=0.699 | T=0.301 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.697 | T=0.303 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 604 | C=0.507 | T=0.493 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.712 | T=0.288 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.693 | T=0.307 |
| SGDP_PRJ | Global | Study-wide | 330 | C=0.370 | T=0.630 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.717 | T=0.283 |
| Qatari | Global | Study-wide | 216 | C=0.699 | T=0.301 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.62 | T=0.38 |
| Siberian | Global | Study-wide | 28 | C=0.46 | T=0.54 |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | T |
|---|---|---|
| GRCh38.p12 chr 8 | NC_000008.11:g.18400285= | NC_000008.11:g.18400285C>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18257795= | NC_000008.10:g.18257795C>T |
| NAT2 RefSeqGene | NG_012246.1:g.14041= | NG_012246.1:g.14041C>T |
| NAT2 transcript | NM_000015.3:c.282= | NM_000015.3:c.282C>T |
| NAT2 transcript | NM_000015.2:c.282= | NM_000015.2:c.282C>T |
| NAT2 transcript variant X1 | XM_017012938.1:c.282= | XM_017012938.1:c.282C>T |
| arylamine N-acetyltransferase 2 | NP_000006.2:p.Tyr94= | NP_000006.2:p.Tyr94= |
| arylamine N-acetyltransferase 2 isoform X1 | XP_016868427.1:p.Tyr94= | XP_016868427.1:p.Tyr94= |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
125 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1508852 | Oct 05, 2000 (86) |
| 2 | HGBASE | ss2420889 | Nov 14, 2000 (89) |
| 3 | SNP500CANCER | ss5586797 | Jul 02, 2003 (116) |
| 4 | RIKENSNPRC | ss6311208 | Feb 20, 2003 (111) |
| 5 | MGC_GENOME_DIFF | ss28497869 | Sep 24, 2004 (126) |
| 6 | MGC_GENOME_DIFF | ss28512666 | Sep 24, 2004 (126) |
| 7 | SI_EXO | ss52067226 | Oct 14, 2006 (127) |
| 8 | ILLUMINA | ss65732322 | Oct 14, 2006 (127) |
| 9 | EGP_SNPS | ss66858967 | Nov 29, 2006 (127) |
| 10 | EGP_SNPS | ss70456613 | May 16, 2007 (127) |
| 11 | ILLUMINA | ss74980700 | Dec 05, 2007 (129) |
| 12 | CGM_KYOTO | ss76874089 | Dec 05, 2007 (129) |
| 13 | HGSV | ss83381656 | Dec 15, 2007 (130) |
| 14 | CORNELL | ss86272062 | Mar 23, 2008 (129) |
| 15 | BCMHGSC_JDW | ss93848828 | Mar 25, 2008 (129) |
| 16 | SHGC | ss99307905 | Feb 05, 2009 (130) |
| 17 | BGI | ss105603530 | Feb 05, 2009 (130) |
| 18 | 1000GENOMES | ss112880873 | Jan 25, 2009 (130) |
| 19 | 1000GENOMES | ss115075069 | Jan 25, 2009 (130) |
| 20 | ILLUMINA-UK | ss115861052 | Feb 14, 2009 (130) |
| 21 | KRIBB_YJKIM | ss119379386 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss152722299 | Dec 01, 2009 (131) |
| 23 | GMI | ss156100866 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss159122877 | Dec 01, 2009 (131) |
| 25 | SEATTLESEQ | ss159716512 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss159891756 | Dec 01, 2009 (131) |
| 27 | COMPLETE_GENOMICS | ss162207614 | Jul 04, 2010 (132) |
| 28 | COMPLETE_GENOMICS | ss164094685 | Jul 04, 2010 (132) |
| 29 | ILLUMINA | ss170052759 | Jul 04, 2010 (132) |
| 30 | BUSHMAN | ss198867399 | Jul 04, 2010 (132) |
| 31 | 1000GENOMES | ss223576388 | Jul 14, 2010 (132) |
| 32 | 1000GENOMES | ss234345861 | Jul 15, 2010 (132) |
| 33 | 1000GENOMES | ss241221832 | Jul 15, 2010 (132) |
| 34 | BL | ss254157056 | May 09, 2011 (134) |
| 35 | GMI | ss279717734 | May 04, 2012 (137) |
| 36 | NHLBI-ESP | ss342253601 | May 09, 2011 (134) |
| 37 | ILLUMINA | ss410878051 | Sep 17, 2011 (135) |
| 38 | ILLUMINA | ss479262019 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss479264963 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss479632864 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss484431713 | May 04, 2012 (137) |
| 42 | 1000GENOMES | ss490960717 | May 04, 2012 (137) |
| 43 | EXOME_CHIP | ss491410756 | May 04, 2012 (137) |
| 44 | CLINSEQ_SNP | ss491921836 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss536554766 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss536603399 | Sep 08, 2015 (146) |
| 47 | TISHKOFF | ss560588639 | Apr 25, 2013 (138) |
| 48 | SSMP | ss655024496 | Apr 25, 2013 (138) |
| 49 | ILLUMINA | ss778355409 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss782662315 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss783631253 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss831912839 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss832635597 | Jul 13, 2019 (153) |
| 54 | ILLUMINA | ss833810144 | Sep 08, 2015 (146) |
| 55 | JMKIDD_LAB | ss974467363 | Aug 21, 2014 (142) |
| 56 | EVA-GONL | ss985256280 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss1067495861 | Aug 21, 2014 (142) |
| 58 | JMKIDD_LAB | ss1075326283 | Aug 21, 2014 (142) |
| 59 | 1000GENOMES | ss1328853894 | Aug 21, 2014 (142) |
| 60 | DDI | ss1431436715 | Apr 01, 2015 (144) |
| 61 | EVA_GENOME_DK | ss1582586557 | Apr 01, 2015 (144) |
| 62 | EVA_FINRISK | ss1584057286 | Apr 01, 2015 (144) |
| 63 | EVA_DECODE | ss1594845135 | Apr 01, 2015 (144) |
| 64 | EVA_UK10K_ALSPAC | ss1620100535 | Apr 01, 2015 (144) |
| 65 | EVA_UK10K_TWINSUK | ss1663094568 | Apr 01, 2015 (144) |
| 66 | EVA_EXAC | ss1689107828 | Apr 01, 2015 (144) |
| 67 | EVA_MGP | ss1711194411 | Apr 01, 2015 (144) |
| 68 | EVA_SVP | ss1713019599 | Apr 01, 2015 (144) |
| 69 | ILLUMINA | ss1752722182 | Sep 08, 2015 (146) |
| 70 | HAMMER_LAB | ss1805425818 | Sep 08, 2015 (146) |
| 71 | WEILL_CORNELL_DGM | ss1928545813 | Feb 12, 2016 (147) |
| 72 | GENOMED | ss1970925398 | Jul 19, 2016 (147) |
| 73 | JJLAB | ss2024971336 | Sep 14, 2016 (149) |
| 74 | USC_VALOUEV | ss2153192867 | Dec 20, 2016 (150) |
| 75 | HUMAN_LONGEVITY | ss2301164536 | Dec 20, 2016 (150) |
| 76 | TOPMED | ss2470822135 | Dec 20, 2016 (150) |
| 77 | SYSTEMSBIOZJU | ss2626970488 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss2634717898 | Nov 08, 2017 (151) |
| 79 | ILLUMINA | ss2634717899 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss2634717900 | Nov 08, 2017 (151) |
| 81 | GRF | ss2708953250 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss2711131667 | Nov 08, 2017 (151) |
| 83 | GNOMAD | ss2737016641 | Nov 08, 2017 (151) |
| 84 | GNOMAD | ss2748005924 | Nov 08, 2017 (151) |
| 85 | GNOMAD | ss2863932582 | Nov 08, 2017 (151) |
| 86 | SWEGEN | ss3002780524 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss3022824449 | Nov 08, 2017 (151) |
| 88 | EVA_SAMSUNG_MC | ss3023063894 | Nov 08, 2017 (151) |
| 89 | BIOINF_KMB_FNS_UNIBA | ss3026276047 | Nov 08, 2017 (151) |
| 90 | CSIRBIOHTS | ss3029637975 | Nov 08, 2017 (151) |
| 91 | CSHL | ss3348074284 | Nov 08, 2017 (151) |
| 92 | TOPMED | ss3555514708 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss3630009716 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3630009717 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3632618566 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3633492979 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3634219382 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3635161278 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3635898368 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3636898278 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3637651508 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3638747286 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3640868568 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3643679166 | Oct 12, 2018 (152) |
| 105 | OMUKHERJEE_ADBS | ss3646372874 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3653365279 | Oct 12, 2018 (152) |
| 107 | EGCUT_WGS | ss3670459158 | Jul 13, 2019 (153) |
| 108 | EVA_DECODE | ss3721526500 | Jul 13, 2019 (153) |
| 109 | ILLUMINA | ss3726518831 | Jul 13, 2019 (153) |
| 110 | ACPOP | ss3735453495 | Jul 13, 2019 (153) |
| 111 | ILLUMINA | ss3745461068 | Jul 13, 2019 (153) |
| 112 | EVA | ss3767698252 | Jul 13, 2019 (153) |
| 113 | ILLUMINA | ss3772953668 | Jul 13, 2019 (153) |
| 114 | PACBIO | ss3786082987 | Jul 13, 2019 (153) |
| 115 | PACBIO | ss3791349755 | Jul 13, 2019 (153) |
| 116 | PACBIO | ss3796230924 | Jul 13, 2019 (153) |
| 117 | KHV_HUMAN_GENOMES | ss3810861612 | Jul 13, 2019 (153) |
| 118 | EVA | ss3824350614 | Apr 26, 2020 (154) |
| 119 | EVA | ss3825525050 | Apr 26, 2020 (154) |
| 120 | EVA | ss3825736886 | Apr 26, 2020 (154) |
| 121 | EVA | ss3831046603 | Apr 26, 2020 (154) |
| 122 | EVA | ss3839033009 | Apr 26, 2020 (154) |
| 123 | EVA | ss3844490958 | Apr 26, 2020 (154) |
| 124 | SGDP_PRJ | ss3869405007 | Apr 26, 2020 (154) |
| 125 | KRGDB | ss3916829875 | Apr 26, 2020 (154) |
| 126 | 1000Genomes | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 127 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 128 | Genetic variation in the Estonian population | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 129 | ExAC | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 130 | FINRISK | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 131 | The Danish reference pan genome | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 132 | gnomAD - Genomes | NC_000008.10 - 18257795 | Jul 13, 2019 (153) |
| 133 | gnomAD - Exomes | NC_000008.10 - 18257795 | Jul 13, 2019 (153) |
| 134 | GO Exome Sequencing Project | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 135 | Genome of the Netherlands Release 5 | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 136 | HapMap | NC_000008.11 - 18400285 | Apr 26, 2020 (154) |
| 137 | KOREAN population from KRGDB | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 138 | Medical Genome Project healthy controls from Spanish population | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 139 | Northern Sweden | NC_000008.10 - 18257795 | Jul 13, 2019 (153) |
| 140 | Qatari | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 141 | SGDP_PRJ | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 142 | Siberian | NC_000008.10 - 18257795 | Apr 26, 2020 (154) |
| 143 | TopMed | NC_000008.11 - 18400285 | Oct 12, 2018 (152) |
| 144 | UK 10K study - Twins | NC_000008.10 - 18257795 | Oct 12, 2018 (152) |
| 145 | A Vietnamese Genetic Variation Database | NC_000008.10 - 18257795 | Jul 13, 2019 (153) |
| 146 | dbGaP Population Frequency Project | NC_000008.11 - 18400285 | Apr 26, 2020 (154) |
| 147 | ClinVar | RCV000417176.1 | Oct 12, 2018 (152) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs17845484 | Mar 10, 2006 (126) |
| rs17858364 | Mar 10, 2006 (126) |
| rs59855457 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss83381656, ss93848828, ss112880873, ss115075069, ss115861052, ss162207614, ss164094685, ss198867399, ss254157056, ss279717734, ss479262019, ss491921836, ss1594845135, ss1713019599, ss3643679166 | NC_000008.9:18302074:C:T | NC_000008.11:18400284:C:T | (self) |
| 40947076, 22761465, 16197406, 9201183, 53747, 8751495, 111847161, 6184575, 808474, 10170873, 24007269, 310171, 8738360, 10587743, 21421987, 5709221, 22761465, 5074604, ss223576388, ss234345861, ss241221832, ss342253601, ss479264963, ss479632864, ss484431713, ss490960717, ss491410756, ss536554766, ss536603399, ss560588639, ss655024496, ss778355409, ss782662315, ss783631253, ss831912839, ss832635597, ss833810144, ss974467363, ss985256280, ss1067495861, ss1075326283, ss1328853894, ss1431436715, ss1582586557, ss1584057286, ss1620100535, ss1663094568, ss1689107828, ss1711194411, ss1752722182, ss1805425818, ss1928545813, ss1970925398, ss2024971336, ss2153192867, ss2470822135, ss2626970488, ss2634717898, ss2634717899, ss2634717900, ss2708953250, ss2711131667, ss2737016641, ss2748005924, ss2863932582, ss3002780524, ss3022824449, ss3023063894, ss3029637975, ss3348074284, ss3630009716, ss3630009717, ss3632618566, ss3633492979, ss3634219382, ss3635161278, ss3635898368, ss3636898278, ss3637651508, ss3638747286, ss3640868568, ss3646372874, ss3653365279, ss3670459158, ss3735453495, ss3745461068, ss3767698252, ss3772953668, ss3786082987, ss3791349755, ss3796230924, ss3824350614, ss3825525050, ss3825736886, ss3831046603, ss3839033009, ss3869405007, ss3916829875 | NC_000008.10:18257794:C:T | NC_000008.11:18400284:C:T | (self) |
| RCV000417176.1, 3577444, 384382845, 725016794, ss2301164536, ss3026276047, ss3555514708, ss3721526500, ss3726518831, ss3810861612, ss3844490958 | NC_000008.11:18400284:C:T | NC_000008.11:18400284:C:T | (self) |
| ss52067226 | NT_030737.9:6102722:C:T | NC_000008.11:18400284:C:T | (self) |
| ss1508852, ss2420889, ss5586797, ss6311208, ss28497869, ss28512666, ss65732322, ss66858967, ss70456613, ss74980700, ss76874089, ss86272062, ss99307905, ss105603530, ss119379386, ss152722299, ss156100866, ss159122877, ss159716512, ss159891756, ss170052759, ss410878051 | NT_167187.1:6115940:C:T | NC_000008.11:18400284:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
72
citations for rs1041983
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16112301 | NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. | García-Closas M et al. | 2005 | Lancet (London, England) |
| 16400611 | Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. | Suarez BK et al. | 2006 | American journal of human genetics |
| 16416399 | Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. | Patin E et al. | 2006 | American journal of human genetics |
| 16847422 | Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma. | Morton LM et al. | 2006 | Pharmacogenetics and genomics |
| 17335581 | Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus. | Soejima M et al. | 2007 | Arthritis research & therapy |
| 18421452 | Association of slow N-acetyltransferase 2 profile and anti-TB drug-induced hepatotoxicity in patients from Southern Brazil. | Possuelo LG et al. | 2008 | European journal of clinical pharmacology |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 18680467 | Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. | Walraven JM et al. | 2008 | Current drug metabolism |
| 18773084 | Multiple advantageous amino acid variants in the NAT2 gene in human populations. | Luca F et al. | 2008 | PloS one |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 19164093 | Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. | Matimba A et al. | 2009 | Human genomics |
| 19809881 | Genetic variation in N-acetyltransferases 1 and 2, cigarette smoking, and risk of non-Hodgkin lymphoma. | Kilfoy BA et al. | 2010 | Cancer causes & control |
| 19822571 | Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma. | Zhang Y et al. | 2009 | American journal of epidemiology |
| 19826048 | Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. | Akbari MR et al. | 2009 | Cancer research |
| 20029944 | Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. | Han X et al. | 2010 | American journal of hematology |
| 20043821 | Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data. | Sabbagh A et al. | 2009 | BMC medical genetics |
| 20131310 | Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma. | Li Y et al. | 2010 | American journal of hematology |
| 20436251 | Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. | Ferrucci LM et al. | 2010 | World review of nutrition and dietetics |
| 20739907 | A single nucleotide polymorphism tags variation in the arylamine N-acetyltransferase 2 phenotype in populations of European background. | García-Closas M et al. | 2011 | Pharmacogenetics and genomics |
| 21037224 | GSTM1 null and NAT2 slow acetylation genotypes, smoking intensity and bladder cancer risk: results from the New England bladder cancer study and NAT2 meta-analysis. | Moore LE et al. | 2011 | Carcinogenesis |
| 21254355 | Smoking, the xenobiotic pathway, and clubfoot. | Sommer A et al. | 2011 | Birth defects research. Part A, Clinical and molecular teratology |
| 21382071 | Altered xanthine oxidase and N-acetyltransferase activity in obese children. | Chiney MS et al. | 2011 | British journal of clinical pharmacology |
| 21474949 | Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. | Ferrucci LM et al. | 2010 | Journal of nutrigenetics and nutrigenomics |
| 21494681 | Arylamine N-acetyltransferase 2 (NAT2) genetic diversity and traditional subsistence: a worldwide population survey. | Sabbagh A et al. | 2011 | PloS one |
| 21678399 | Hair dye use and risk of bladder cancer in the New England bladder cancer study. | Koutros S et al. | 2011 | International journal of cancer |
| 21709725 | No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent. | Kidd LC et al. | 2011 | Biomarkers in cancer |
| 21750470 | Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype. | Selinski S et al. | 2011 | Pharmacogenetics and genomics |
| 21845925 | A genetic instrumental variables analysis of the effects of prenatal smoking on birth weight: evidence from two samples. | Wehby GL et al. | 2011 | Biodemography and social biology |
| 21894447 | Are centenarians genetically predisposed to lower disease risk? | Ruiz JR et al. | 2012 | Age (Dordrecht, Netherlands) |
| 22092036 | Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes. | Hein DW et al. | 2012 | Pharmacogenomics |
| 22162992 | Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. | Yimer G et al. | 2011 | PloS one |
| 22294980 | Trends in qualifying biomarkers in drug safety. Consensus of the 2011 meeting of the spanish society of clinical pharmacology. | Agúndez JA et al. | 2012 | Frontiers in pharmacology |
| 22336957 | Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs. | Suarez-Kurtz G et al. | 2012 | Pharmacogenetics and genomics |
| 22414877 | Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples. | He YJ et al. | 2012 | Pharmacogenetics and genomics |
| 22424094 | Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. | Potts LF et al. | 2012 | BMC medical genetics |
| 22506592 | NAT2 and CYP2E1 polymorphisms associated with antituberculosis drug-induced hepatotoxicity in Chinese patients. | An HR et al. | 2012 | Clinical and experimental pharmacology & physiology |
| 22645715 | Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. | Heck JE et al. | 2012 | Frontiers in oncology |
| 22970273 | The differential effect of NAT2 variant alleles permits refinement in phenotype inference and identifies a very slow acetylation genotype. | Ruiz JD et al. | 2012 | PloS one |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23015320 | Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. | Fu Z et al. | 2012 | The American journal of clinical nutrition |
| 23226154 | Polymorphisms of Phase I and Phase II Enzymes and Breast Cancer Risk. | Justenhoven C et al. | 2012 | Frontiers in genetics |
| 23284801 | Distinct SNP combinations confer susceptibility to urinary bladder cancer in smokers and non-smokers. | Schwender H et al. | 2012 | PloS one |
| 23299405 | Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. | Fu Z et al. | 2013 | Carcinogenesis |
| 23660777 | Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate. | Song T et al. | 2013 | Molecular medicine reports |
| 24221535 | Refinement of the prediction of N-acetyltransferase 2 (NAT2) phenotypes with respect to enzyme activity and urinary bladder cancer risk. | Selinski S et al. | 2013 | Archives of toxicology |
| 24892773 | PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2. | McDonagh EM et al. | 2014 | Pharmacogenetics and genomics |
| 24909419 | A 30-years review on pharmacokinetics of antibiotics: is the right time for pharmacogenetics? | Baietto L et al. | 2014 | Current drug metabolism |
| 24934506 | GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence. | Eny KM et al. | 2014 | Diabetologia |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25231222 | Meat-derived carcinogens, genetic susceptibility and colorectal adenoma risk. | Ho V et al. | 2014 | Genes & nutrition |
| 25719551 | The role of genotypes that modify the toxicity of chemical mutagens in the risk for myeloproliferative neoplasms. | Gross-Davis CA et al. | 2015 | International journal of environmental research and public health |
| 25980667 | Pharmacogenetics of treatment response in psoriatic arthritis. | Jani M et al. | 2015 | Current rheumatology reports |
| 26445549 | Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population. | Huang Z et al. | 2015 | OncoTargets and therapy |
| 26683305 | Interaction between Red Meat Intake and NAT2 Genotype in Increasing the Risk of Colorectal Cancer in Japanese and African Americans. | Wang H et al. | 2015 | PloS one |
| 26700672 | Active cigarette smoking and the risk of breast cancer at the level of N-acetyltransferase 2 (NAT2) gene polymorphisms. | Kasajova P et al. | 2016 | Tumour biology |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
| 27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
| 27136043 | Single nucleotide polymorphism coverage and inference of N-acetyltransferase-2 acetylator phenotypes in wordwide population groups. | Suarez-Kurtz G et al. | 2016 | Pharmacogenetics and genomics |
| 27223070 | Differential association for N-acetyltransferase 2 genotype and phenotype with bladder cancer risk in Chinese population. | Quan L et al. | 2016 | Oncotarget |
| 27332812 | Hepatotoxicity during Treatment for Tuberculosis in People Living with HIV/AIDS. | Araújo-Mariz C et al. | 2016 | PloS one |
| 27340556 | Development of a prediction system for anti-tuberculosis drug-induced liver injury in Japanese patients. | Mushiroda T et al. | 2016 | Human genome variation |
| 27488001 | N-acetyltransferase 2 (NAT2) gene polymorphism as a predisposing factor for phenytoin intoxication in tuberculous meningitis or tuberculoma patients having seizures - A pilot study. | Adole PS et al. | 2016 | The Indian journal of medical research |
| 27495060 | rs1495741 as a tag single nucleotide polymorphism of N-acetyltransferase 2 acetylator phenotype associates bladder cancer risk and interacts with smoking: A systematic review and meta-analysis. | Ma C et al. | 2016 | Medicine |
| 28028995 | Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations. | Choi R et al. | 2017 | Annals of laboratory medicine |
| 28259080 | Passive smoking and influenza-like illness in housewives: A perspective of gene susceptibility. | Wang B et al. | 2017 | Chemosphere |
| 28817838 | Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228). | Lévi F et al. | 2017 | British journal of cancer |
| 28870161 | Chronic dialysis, NAT2 polymorphisms, and the risk of isoniazid-induced encephalopathy - case report and literature review. | Constantinescu SM et al. | 2017 | BMC nephrology |
| 29036176 | Association and clinical utility of NAT2 in the prediction of isoniazid-induced liver injury in Singaporean patients. | Chan SL et al. | 2017 | PloS one |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 30531039 | Polymorphisms of NAT2, CYP2E1, GST, and HLA related to drug-induced liver injury in indonesian tuberculosis patients. | Perwitasari DA et al. | 2018 | International journal of mycobacteriology |
| 31174321 | Isoniazid Concentration and <i>NAT2</i> Genotype Predict Risk of Systemic Drug Reactions during 3HP for LTBI. | Lee MR et al. | 2019 | Journal of clinical medicine |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.