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.
rs1057126
Current Build 154
Released April 21, 2020
- Organism
- Homo sapiens
- Position
-
chr8:18223135 (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
- A>C / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.338406 (42493/125568, TOPMED)A=0.43217 (33887/78412, PAGE_STUDY)A=0.34034 (10424/30628, GnomAD) (+ 12 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- NAT1 : 3 Prime UTR Variant
- Publications
- 26 citations
- Genomic View
- See rs on genome
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.
| Sequence name | Change |
|---|---|
| GRCh38.p12 chr 8 | NC_000008.11:g.18223135A>C |
| GRCh38.p12 chr 8 | NC_000008.11:g.18223135A>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18080644A>C |
| GRCh37.p13 chr 8 | NC_000008.10:g.18080644A>T |
| NAT1 RefSeqGene | NG_012245.2:g.57674A>C |
| NAT1 RefSeqGene | NG_012245.2:g.57674A>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NAT1 transcript variant 6 | NM_001160174.2:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 4 | NM_001160173.3:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 5 | NM_000662.8:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 1 | NM_001160170.4:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 8 | NM_001160176.4:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 10 | NM_001291962.2:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 9 | NM_001160179.3:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 2 | NM_001160171.4:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 7 | NM_001160175.4:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant 3 | NM_001160172.4:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant X2 | XM_011544687.1:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant X1 | XM_011544688.1:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant X3 | XM_017013947.1:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant X4 | XM_006716410.3:c.*215= | N/A | 3 Prime UTR Variant |
| NAT1 transcript variant X5 | XM_011544689.2:c.*215= | N/A | 3 Prime UTR Variant |
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.
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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14420 | A=0.29806 | T=0.70194 |
| European | Sub | 9824 | A=0.2287 | T=0.7713 |
| African | Sub | 2946 | A=0.4769 | T=0.5231 |
| African Others | Sub | 114 | A=0.526 | T=0.474 |
| African American | Sub | 2832 | A=0.4749 | T=0.5251 |
| Asian | Sub | 112 | A=0.518 | T=0.482 |
| East Asian | Sub | 86 | A=0.48 | T=0.52 |
| Other Asian | Sub | 26 | A=0.65 | T=0.35 |
| Latin American 1 | Sub | 146 | A=0.322 | T=0.678 |
| Latin American 2 | Sub | 610 | A=0.431 | T=0.569 |
| South Asian | Sub | 98 | A=0.35 | T=0.65 |
| Other | Sub | 684 | A=0.357 | T=0.643 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 125568 | A=0.338406 | T=0.661594 |
| The PAGE Study | Global | Study-wide | 78412 | A=0.43217 | T=0.56783 |
| The PAGE Study | AfricanAmerican | Sub | 32340 | A=0.46017 | T=0.53983 |
| The PAGE Study | Mexican | Sub | 10784 | A=0.43036 | T=0.56964 |
| The PAGE Study | Asian | Sub | 8292 | A=0.4770 | T=0.5230 |
| The PAGE Study | PuertoRican | Sub | 7904 | A=0.3316 | T=0.6684 |
| The PAGE Study | NativeHawaiian | Sub | 4524 | A=0.6103 | T=0.3897 |
| The PAGE Study | Cuban | Sub | 4222 | A=0.2887 | T=0.7113 |
| The PAGE Study | Dominican | Sub | 3818 | A=0.3905 | T=0.6095 |
| The PAGE Study | CentralAmerican | Sub | 2446 | A=0.4015 | T=0.5985 |
| The PAGE Study | SouthAmerican | Sub | 1972 | A=0.3580 | T=0.6420 |
| The PAGE Study | NativeAmerican | Sub | 1258 | A=0.3068 | T=0.6932 |
| The PAGE Study | SouthAsian | Sub | 852 | A=0.285 | T=0.715 |
| gnomAD - Genomes | Global | Study-wide | 30628 | A=0.34034 | T=0.65966 |
| gnomAD - Genomes | European | Sub | 18378 | A=0.25275 | T=0.74725 |
| gnomAD - Genomes | African | Sub | 8570 | A=0.4956 | T=0.5044 |
| gnomAD - Genomes | East Asian | Sub | 1532 | A=0.5228 | T=0.4772 |
| gnomAD - Genomes | Other | Sub | 1056 | A=0.2784 | T=0.7216 |
| gnomAD - Genomes | American | Sub | 808 | A=0.428 | T=0.572 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 284 | A=0.320 | T=0.680 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.4006 | T=0.5994 |
| 1000Genomes | African | Sub | 1322 | A=0.4992 | T=0.5008 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.5278 | T=0.4722 |
| 1000Genomes | Europe | Sub | 1006 | A=0.2356 | T=0.7644 |
| 1000Genomes | South Asian | Sub | 978 | A=0.336 | T=0.664 |
| 1000Genomes | American | Sub | 694 | A=0.357 | T=0.643 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4402 | A=0.2424 | T=0.7576 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.2058 | T=0.7942 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.1993 | T=0.8007 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.4706 | C=0.0000, T=0.5294 |
| ALFA | Total | Global | 2188 | A=0.2386 | T=0.7614 |
| ALFA | European | Sub | 2072 | A=0.2264 | T=0.7736 |
| ALFA | African | Sub | 82 | A=0.49 | T=0.51 |
| ALFA | Other | Sub | 26 | A=0.38 | T=0.62 |
| ALFA | South Asian | Sub | 4 | A=0.0 | T=1.0 |
| ALFA | Asian | Sub | 4 | A=0.8 | T=0.2 |
| ALFA | Latin American 1 | Sub | 0 | A=0 | T=0 |
| ALFA | Latin American 2 | Sub | 0 | A=0 | T=0 |
| Korean Genome Project | KOREAN | Study-wide | 1822 | A=0.4885 | T=0.5115 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.220 | T=0.780 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.182 | T=0.818 |
| SGDP_PRJ | Global | Study-wide | 458 | A=0.249 | T=0.751 |
| Siberian | Global | Study-wide | 52 | A=0.29 | T=0.71 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.17 | T=0.82 |
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 | A= | C | T |
|---|---|---|---|
| GRCh38.p12 chr 8 | NC_000008.11:g.18223135= | NC_000008.11:g.18223135A>C | NC_000008.11:g.18223135A>T |
| GRCh37.p13 chr 8 | NC_000008.10:g.18080644= | NC_000008.10:g.18080644A>C | NC_000008.10:g.18080644A>T |
| NAT1 RefSeqGene | NG_012245.2:g.57674= | NG_012245.2:g.57674A>C | NG_012245.2:g.57674A>T |
| NAT1 transcript variant 5 | NM_000662.8:c.*215= | NM_000662.8:c.*215A>C | NM_000662.8:c.*215A>T |
| NAT1 transcript variant 5 | NM_000662.7:c.*215= | NM_000662.7:c.*215A>C | NM_000662.7:c.*215A>T |
| NAT1 transcript variant 5 | NM_000662.5:c.*215= | NM_000662.5:c.*215A>C | NM_000662.5:c.*215A>T |
| NAT1 transcript variant 1 | NM_001160170.4:c.*215= | NM_001160170.4:c.*215A>C | NM_001160170.4:c.*215A>T |
| NAT1 transcript variant 1 | NM_001160170.3:c.*215= | NM_001160170.3:c.*215A>C | NM_001160170.3:c.*215A>T |
| NAT1 transcript variant 1 | NM_001160170.1:c.*215= | NM_001160170.1:c.*215A>C | NM_001160170.1:c.*215A>T |
| NAT1 transcript variant 2 | NM_001160171.4:c.*215= | NM_001160171.4:c.*215A>C | NM_001160171.4:c.*215A>T |
| NAT1 transcript variant 2 | NM_001160171.3:c.*215= | NM_001160171.3:c.*215A>C | NM_001160171.3:c.*215A>T |
| NAT1 transcript variant 2 | NM_001160171.1:c.*215= | NM_001160171.1:c.*215A>C | NM_001160171.1:c.*215A>T |
| NAT1 transcript variant 3 | NM_001160172.4:c.*215= | NM_001160172.4:c.*215A>C | NM_001160172.4:c.*215A>T |
| NAT1 transcript variant 3 | NM_001160172.3:c.*215= | NM_001160172.3:c.*215A>C | NM_001160172.3:c.*215A>T |
| NAT1 transcript variant 3 | NM_001160172.1:c.*215= | NM_001160172.1:c.*215A>C | NM_001160172.1:c.*215A>T |
| NAT1 transcript variant 7 | NM_001160175.4:c.*215= | NM_001160175.4:c.*215A>C | NM_001160175.4:c.*215A>T |
| NAT1 transcript variant 7 | NM_001160175.3:c.*215= | NM_001160175.3:c.*215A>C | NM_001160175.3:c.*215A>T |
| NAT1 transcript variant 7 | NM_001160175.1:c.*215= | NM_001160175.1:c.*215A>C | NM_001160175.1:c.*215A>T |
| NAT1 transcript variant 8 | NM_001160176.4:c.*215= | NM_001160176.4:c.*215A>C | NM_001160176.4:c.*215A>T |
| NAT1 transcript variant 8 | NM_001160176.3:c.*215= | NM_001160176.3:c.*215A>C | NM_001160176.3:c.*215A>T |
| NAT1 transcript variant 8 | NM_001160176.1:c.*215= | NM_001160176.1:c.*215A>C | NM_001160176.1:c.*215A>T |
| NAT1 transcript variant 9 | NM_001160179.3:c.*215= | NM_001160179.3:c.*215A>C | NM_001160179.3:c.*215A>T |
| NAT1 transcript variant 9 | NM_001160179.2:c.*215= | NM_001160179.2:c.*215A>C | NM_001160179.2:c.*215A>T |
| NAT1 transcript variant 9 | NM_001160179.1:c.*215= | NM_001160179.1:c.*215A>C | NM_001160179.1:c.*215A>T |
| NAT1 transcript variant 4 | NM_001160173.3:c.*215= | NM_001160173.3:c.*215A>C | NM_001160173.3:c.*215A>T |
| NAT1 transcript variant 4 | NM_001160173.1:c.*215= | NM_001160173.1:c.*215A>C | NM_001160173.1:c.*215A>T |
| NAT1 transcript variant 10 | NM_001291962.2:c.*215= | NM_001291962.2:c.*215A>C | NM_001291962.2:c.*215A>T |
| NAT1 transcript variant 10 | NM_001291962.1:c.*215= | NM_001291962.1:c.*215A>C | NM_001291962.1:c.*215A>T |
| NAT1 transcript variant 6 | NM_001160174.2:c.*215= | NM_001160174.2:c.*215A>C | NM_001160174.2:c.*215A>T |
| NAT1 transcript variant 6 | NM_001160174.1:c.*215= | NM_001160174.1:c.*215A>C | NM_001160174.1:c.*215A>T |
| NAT1 transcript variant X4 | XM_006716410.3:c.*215= | XM_006716410.3:c.*215A>C | XM_006716410.3:c.*215A>T |
| NAT1 transcript variant X5 | XM_011544689.2:c.*215= | XM_011544689.2:c.*215A>C | XM_011544689.2:c.*215A>T |
| NAT1 transcript variant X3 | XM_017013947.1:c.*215= | XM_017013947.1:c.*215A>C | XM_017013947.1:c.*215A>T |
| NAT1 transcript variant X2 | XM_011544687.1:c.*215= | XM_011544687.1:c.*215A>C | XM_011544687.1:c.*215A>T |
| NAT1 transcript variant X1 | XM_011544688.1:c.*215= | XM_011544688.1:c.*215A>C | XM_011544688.1:c.*215A>T |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SNP500CANCER | ss5586784 | Jul 02, 2003 (116) |
| 2 | RIKENSNPRC | ss6311253 | Feb 20, 2003 (111) |
| 3 | EGP_SNPS | ss12584642 | Aug 27, 2003 (117) |
| 4 | WI_SSAHASNP | ss14323977 | Dec 05, 2003 (119) |
| 5 | CSHL-HAPMAP | ss19737010 | Feb 27, 2004 (120) |
| 6 | SEQUENOM | ss24818949 | Sep 20, 2004 (123) |
| 7 | EGP_SNPS | ss32478885 | May 24, 2005 (125) |
| 8 | SSAHASNP | ss35436460 | May 24, 2005 (125) |
| 9 | ABI | ss43218406 | Mar 14, 2006 (126) |
| 10 | HGSV | ss78923803 | Dec 07, 2007 (129) |
| 11 | HGSV | ss85244129 | Dec 15, 2007 (130) |
| 12 | BCMHGSC_JDW | ss93848355 | Mar 25, 2008 (129) |
| 13 | ENSEMBL | ss143308727 | Dec 01, 2009 (137) |
| 14 | ENSEMBL | ss161625863 | Dec 01, 2009 (137) |
| 15 | BUSHMAN | ss198864644 | Jul 04, 2010 (137) |
| 16 | BCM-HGSC-SUB | ss206533302 | Jul 04, 2010 (137) |
| 17 | 1000GENOMES | ss223575050 | Jul 14, 2010 (137) |
| 18 | 1000GENOMES | ss234344892 | Jul 15, 2010 (137) |
| 19 | 1000GENOMES | ss241221177 | Jul 15, 2010 (137) |
| 20 | BL | ss254155486 | May 09, 2011 (137) |
| 21 | GMI | ss279716933 | May 04, 2012 (137) |
| 22 | EVA-GONL | ss985254186 | Aug 21, 2014 (142) |
| 23 | 1000GENOMES | ss1328847137 | Aug 21, 2014 (142) |
| 24 | DDI | ss1431435950 | Apr 01, 2015 (144) |
| 25 | EVA_GENOME_DK | ss1582585600 | Apr 01, 2015 (144) |
| 26 | EVA_UK10K_ALSPAC | ss1620096474 | Apr 01, 2015 (144) |
| 27 | EVA_UK10K_TWINSUK | ss1663090507 | Apr 01, 2015 (144) |
| 28 | ILLUMINA | ss1959092262 | Feb 12, 2016 (147) |
| 29 | GENOMED | ss1970924876 | Jul 19, 2016 (147) |
| 30 | JJLAB | ss2024970100 | Sep 14, 2016 (149) |
| 31 | USC_VALOUEV | ss2153191687 | Dec 20, 2016 (150) |
| 32 | HUMAN_LONGEVITY | ss2301150717 | Dec 20, 2016 (150) |
| 33 | TOPMED | ss2470808555 | Dec 20, 2016 (150) |
| 34 | GRF | ss2708952068 | Nov 08, 2017 (151) |
| 35 | ILLUMINA | ss3022824302 | Nov 08, 2017 (151) |
| 36 | CSHL | ss3348073219 | Nov 08, 2017 (151) |
| 37 | TOPMED | ss3555475253 | Nov 08, 2017 (151) |
| 38 | BIOINF_KMB_FNS_UNIBA | ss3646081927 | Oct 12, 2018 (152) |
| 39 | ILLUMINA | ss3653365124 | Oct 12, 2018 (152) |
| 40 | EGCUT_WGS | ss3670456219 | Jul 13, 2019 (153) |
| 41 | EVA_DECODE | ss3721523311 | Jul 13, 2019 (153) |
| 42 | ILLUMINA | ss3726518699 | Jul 13, 2019 (153) |
| 43 | ACPOP | ss3735451690 | Jul 13, 2019 (153) |
| 44 | EVA | ss3767696013 | Jul 13, 2019 (153) |
| 45 | PAGE_CC | ss3771427372 | Jul 13, 2019 (153) |
| 46 | PACBIO | ss3786082441 | Jul 13, 2019 (153) |
| 47 | PACBIO | ss3791349250 | Jul 13, 2019 (153) |
| 48 | PACBIO | ss3796230419 | Jul 13, 2019 (153) |
| 49 | KHV_HUMAN_GENOMES | ss3810859219 | Jul 13, 2019 (153) |
| 50 | EVA | ss3825736877 | Apr 26, 2020 (154) |
| 51 | EVA | ss3831045616 | Apr 26, 2020 (154) |
| 52 | EVA | ss3839032460 | Apr 26, 2020 (154) |
| 53 | EVA | ss3844490399 | Apr 26, 2020 (154) |
| 54 | SGDP_PRJ | ss3869401328 | Apr 26, 2020 (154) |
| 55 | KRGDB | ss3916826294 | Apr 26, 2020 (154) |
| 56 | KOGIC | ss3963372455 | Apr 26, 2020 (154) |
| 57 | 1000Genomes | NC_000008.10 - 18080644 | Oct 12, 2018 (152) |
| 58 | The Avon Longitudinal Study of Parents and Children | NC_000008.10 - 18080644 | Oct 12, 2018 (152) |
| 59 | Genetic variation in the Estonian population | NC_000008.10 - 18080644 | Oct 12, 2018 (152) |
| 60 | The Danish reference pan genome | NC_000008.10 - 18080644 | Apr 26, 2020 (154) |
| 61 | gnomAD - Genomes | NC_000008.10 - 18080644 | Jul 13, 2019 (153) |
| 62 | Genome of the Netherlands Release 5 | NC_000008.10 - 18080644 | Apr 26, 2020 (154) |
| 63 | KOREAN population from KRGDB | NC_000008.10 - 18080644 | Apr 26, 2020 (154) |
| 64 | Korean Genome Project | NC_000008.11 - 18223135 | Apr 26, 2020 (154) |
| 65 | Northern Sweden | NC_000008.10 - 18080644 | Jul 13, 2019 (153) |
| 66 | The PAGE Study | NC_000008.11 - 18223135 | Jul 13, 2019 (153) |
| 67 | SGDP_PRJ | NC_000008.10 - 18080644 | Apr 26, 2020 (154) |
| 68 | Siberian | NC_000008.10 - 18080644 | Apr 26, 2020 (154) |
| 69 | TopMed | NC_000008.11 - 18223135 | Oct 12, 2018 (152) |
| 70 | UK 10K study - Twins | NC_000008.10 - 18080644 | Oct 12, 2018 (152) |
| 71 | dbGaP Population Frequency Project | NC_000008.11 - 18223135 | Apr 26, 2020 (154) |
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) |
|---|---|
| rs3197751 | Jul 03, 2002 (106) |
| rs8190860 | Oct 08, 2004 (123) |
| rs58827020 | May 24, 2008 (130) |
| rs80069221 | Jan 15, 2013 (137) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 24003688, ss3916826294 | NC_000008.10:18080643:A:C | NC_000008.11:18223134:A:C | |
| ss35436460, ss78923803, ss85244129, ss93848355, ss198864644, ss206533302, ss254155486, ss279716933 | NC_000008.9:18124923:A:T | NC_000008.11:18223134:A:T | (self) |
| 40940121, 22757081, 16194467, 8750538, 111829338, 10168800, 24003688, 8736555, 21418308, 5708041, 22757081, ss223575050, ss234344892, ss241221177, ss985254186, ss1328847137, ss1431435950, ss1582585600, ss1620096474, ss1663090507, ss1959092262, ss1970924876, ss2024970100, ss2153191687, ss2470808555, ss2708952068, ss3022824302, ss3348073219, ss3653365124, ss3670456219, ss3735451690, ss3767696013, ss3786082441, ss3791349250, ss3796230419, ss3825736877, ss3831045616, ss3839032460, ss3869401328, ss3916826294 | NC_000008.10:18080643:A:T | NC_000008.11:18223134:A:T | (self) |
| 19750456, 648841, 384349623, 350424542, ss2301150717, ss3555475253, ss3646081927, ss3721523311, ss3726518699, ss3771427372, ss3810859219, ss3844490399, ss3963372455 | NC_000008.11:18223134:A:T | NC_000008.11:18223134:A:T | (self) |
| ss14323977, ss19737010 | NT_030737.8:5891564:A:T | NC_000008.11:18223134:A:T | (self) |
| ss5586784, ss6311253, ss12584642, ss24818949, ss32478885, ss43218406, ss143308727, ss161625863 | NT_167187.1:5938789:A:T | NC_000008.11:18223134:A:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| 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 |
| 18449058 | Maternal smoking and oral clefts: the role of detoxification pathway genes. | Lie RT et al. | 2008 | Epidemiology (Cambridge, Mass.) |
| 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 |
| 20029944 | Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival. | Han X et al. | 2010 | American journal of hematology |
| 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 |
| 21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
| 21290563 | Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions. | Zhu Y et al. | 2011 | Birth defects research. Part A, Clinical and molecular teratology |
| 21474949 | Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. | Ferrucci LM et al. | 2010 | Journal of nutrigenetics and nutrigenomics |
| 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 |
| 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 |
| 22114069 | Functional analysis of arylamine N-acetyltransferase 1 (NAT1) NAT1*10 haplotypes in a complete NATb mRNA construct. | Millner LM et al. | 2012 | Carcinogenesis |
| 22645715 | Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. | Heck JE et al. | 2012 | Frontiers in oncology |
| 22724046 | Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk. | Eichholzer M et al. | 2012 | International journal of molecular epidemiology and genetics |
| 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 |
| 23161286 | Differential haplotype amplification leads to misgenotyping of heterozygote as homozygote when using single nucleotide mismatch primer. | De Sarkar N et al. | 2012 | Electrophoresis |
| 23299405 | Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. | Fu Z et al. | 2013 | Carcinogenesis |
| 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 |
| 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 |
| 28696911 | N-acetyltransferase 1*10 genotype in bladder cancer patients. | Höhne S et al. | 2017 | Journal of toxicology and environmental health. Part A |
| 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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
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.