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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.

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)
A=0.4006 (2006/5008, 1000G)
A=0.2424 (1067/4402, Estonian)
A=0.2058 (793/3854, ALSPAC)
A=0.1993 (739/3708, TWINSUK)
A=0.4706 (1379/2930, KOREAN)
A=0.2386 (522/2188, ALFA Project)
A=0.4885 (890/1822, Korea1K)
A=0.220 (220/998, GoNL)
A=0.182 (109/600, NorthernSweden)
A=0.249 (114/458, SGDP_PRJ)
A=0.29 (15/52, Siberian)
A=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : 3 Prime UTR Variant
Publications
26 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.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
Gene: NAT1, N-acetyltransferase 1 (plus strand)
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
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 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


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
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
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 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
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#.

56 SubSNP, 15 Frequency submissions
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)
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)
rs3197751 Jul 03, 2002 (106)
rs8190860 Oct 08, 2004 (123)
rs58827020 May 24, 2008 (130)
rs80069221 Jan 15, 2013 (137)
Added to this RefSNP Cluster:
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)
Help

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

26 citations for rs1057126
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
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
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.

Software version is: 2.0.1.post557+f76c771