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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.

rs15561

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18223142 (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=0.364456 (45764/125568, TOPMED)
A=0.282327 (29991/106228, ALFA Project)
A=0.46555 (36633/78688, PAGE_STUDY) (+ 15 more)
A=0.36261 (11117/30658, GnomAD)
A=0.4373 (2190/5008, 1000G)
A=0.2734 (1225/4480, Estonian)
A=0.2481 (956/3854, ALSPAC)
A=0.2457 (911/3708, TWINSUK)
A=0.4939 (1447/2930, KOREAN)
A=0.4400 (822/1868, HapMap)
C=0.4951 (901/1820, Korea1K)
A=0.3512 (399/1136, Daghestan)
A=0.262 (261/998, GoNL)
A=0.190 (114/600, NorthernSweden)
A=0.273 (123/450, SGDP_PRJ)
A=0.407 (88/216, Qatari)
A=0.31 (17/54, Siberian)
A=0.33 (13/40, 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.18223142A>C
GRCh38.p12 chr 8 NC_000008.11:g.18223142A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080651A>C
GRCh37.p13 chr 8 NC_000008.10:g.18080651A>T
NAT1 RefSeqGene NG_012245.2:g.57681A>C
NAT1 RefSeqGene NG_012245.2:g.57681A>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 4 NM_001160173.3:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 5 NM_000662.8:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 1 NM_001160170.4:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 8 NM_001160176.4:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 10 NM_001291962.2:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 9 NM_001160179.3:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 2 NM_001160171.4:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 7 NM_001160175.4:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant 3 NM_001160172.4:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant X2 XM_011544687.1:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant X1 XM_011544688.1:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant X3 XM_017013947.1:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant X4 XM_006716410.3:c.*222= N/A 3 Prime UTR Variant
NAT1 transcript variant X5 XM_011544689.2:c.*222= 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 251942 A=0.281446 C=0.718554
European Sub 221574 A=0.258979 C=0.741021
African Sub 10056 A=0.51502 C=0.48498
African Others Sub 376 A=0.548 C=0.452
African American Sub 9680 A=0.5137 C=0.4863
Asian Sub 3838 A=0.5399 C=0.4601
East Asian Sub 3108 A=0.5003 C=0.4997
Other Asian Sub 730 A=0.708 C=0.292
Latin American 1 Sub 1040 A=0.3433 C=0.6567
Latin American 2 Sub 6632 A=0.4252 C=0.5748
South Asian Sub 366 A=0.383 C=0.617
Other Sub 8436 A=0.3505 C=0.6495


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=0.364456 C=0.635544
ALFA Total Global 106228 A=0.282327 C=0.717673
ALFA European Sub 91978 A=0.25547 C=0.74453
ALFA African Sub 5600 A=0.5186 C=0.4814
ALFA Latin American 2 Sub 5410 A=0.4285 C=0.5715
ALFA Other Sub 2384 A=0.3863 C=0.6137
ALFA Latin American 1 Sub 556 A=0.353 C=0.647
ALFA Asian Sub 236 A=0.547 C=0.453
ALFA South Asian Sub 64 A=0.39 C=0.61
The PAGE Study Global Study-wide 78688 A=0.46555 C=0.53445
The PAGE Study AfricanAmerican Sub 32502 A=0.49874 C=0.50126
The PAGE Study Mexican Sub 10810 A=0.45513 C=0.54487
The PAGE Study Asian Sub 8318 A=0.5057 C=0.4943
The PAGE Study PuertoRican Sub 7918 A=0.3656 C=0.6344
The PAGE Study NativeHawaiian Sub 4534 A=0.6332 C=0.3668
The PAGE Study Cuban Sub 4230 A=0.3319 C=0.6681
The PAGE Study Dominican Sub 3828 A=0.4148 C=0.5852
The PAGE Study CentralAmerican Sub 2450 A=0.4302 C=0.5698
The PAGE Study SouthAmerican Sub 1982 A=0.3819 C=0.6181
The PAGE Study NativeAmerican Sub 1260 A=0.3405 C=0.6595
The PAGE Study SouthAsian Sub 856 A=0.349 C=0.651
gnomAD - Genomes Global Study-wide 30658 A=0.36261 C=0.63739
gnomAD - Genomes European Sub 18400 A=0.27380 C=0.72620
gnomAD - Genomes African Sub 8566 A=0.5244 C=0.4756
gnomAD - Genomes East Asian Sub 1532 A=0.5346 C=0.4654
gnomAD - Genomes Other Sub 1058 A=0.3034 C=0.6966
gnomAD - Genomes American Sub 816 A=0.436 C=0.564
gnomAD - Genomes Ashkenazi Jewish Sub 286 A=0.318 C=0.682
1000Genomes Global Study-wide 5008 A=0.4373 C=0.5627
1000Genomes African Sub 1322 A=0.5212 C=0.4788
1000Genomes East Asian Sub 1008 A=0.5516 C=0.4484
1000Genomes Europe Sub 1006 A=0.2803 C=0.7197
1000Genomes South Asian Sub 978 A=0.407 C=0.593
1000Genomes American Sub 694 A=0.382 C=0.618
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2734 C=0.7266
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2481 C=0.7519
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2457 C=0.7543
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4939 C=0.5061, T=0.0000
HapMap Global Study-wide 1868 A=0.4400 C=0.5600
HapMap American Sub 754 A=0.420 C=0.580
HapMap African Sub 686 A=0.452 C=0.548
HapMap Asian Sub 252 A=0.556 C=0.444
HapMap Europe Sub 176 A=0.312 C=0.688
Korean Genome Project KOREAN Study-wide 1820 A=0.5049 C=0.4951
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.3512 C=0.6488
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.371 C=0.629
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.292 C=0.708
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.344 C=0.656
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.194 C=0.806
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.46 C=0.54
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.44 C=0.56
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.262 C=0.738
Northern Sweden ACPOP Study-wide 600 A=0.190 C=0.810
SGDP_PRJ Global Study-wide 450 A=0.273 C=0.727
Qatari Global Study-wide 216 A=0.407 C=0.593
Siberian Global Study-wide 54 A=0.31 C=0.69
The Danish reference pan genome Danish Study-wide 40 A=0.33 C=0.68
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.18223142= NC_000008.11:g.18223142A>C NC_000008.11:g.18223142A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080651= NC_000008.10:g.18080651A>C NC_000008.10:g.18080651A>T
NAT1 RefSeqGene NG_012245.2:g.57681= NG_012245.2:g.57681A>C NG_012245.2:g.57681A>T
NAT1 transcript variant 5 NM_000662.8:c.*222= NM_000662.8:c.*222A>C NM_000662.8:c.*222A>T
NAT1 transcript variant 5 NM_000662.7:c.*222= NM_000662.7:c.*222A>C NM_000662.7:c.*222A>T
NAT1 transcript variant 5 NM_000662.5:c.*222= NM_000662.5:c.*222A>C NM_000662.5:c.*222A>T
NAT1 transcript variant 1 NM_001160170.4:c.*222= NM_001160170.4:c.*222A>C NM_001160170.4:c.*222A>T
NAT1 transcript variant 1 NM_001160170.3:c.*222= NM_001160170.3:c.*222A>C NM_001160170.3:c.*222A>T
NAT1 transcript variant 1 NM_001160170.1:c.*222= NM_001160170.1:c.*222A>C NM_001160170.1:c.*222A>T
NAT1 transcript variant 2 NM_001160171.4:c.*222= NM_001160171.4:c.*222A>C NM_001160171.4:c.*222A>T
NAT1 transcript variant 2 NM_001160171.3:c.*222= NM_001160171.3:c.*222A>C NM_001160171.3:c.*222A>T
NAT1 transcript variant 2 NM_001160171.1:c.*222= NM_001160171.1:c.*222A>C NM_001160171.1:c.*222A>T
NAT1 transcript variant 3 NM_001160172.4:c.*222= NM_001160172.4:c.*222A>C NM_001160172.4:c.*222A>T
NAT1 transcript variant 3 NM_001160172.3:c.*222= NM_001160172.3:c.*222A>C NM_001160172.3:c.*222A>T
NAT1 transcript variant 3 NM_001160172.1:c.*222= NM_001160172.1:c.*222A>C NM_001160172.1:c.*222A>T
NAT1 transcript variant 7 NM_001160175.4:c.*222= NM_001160175.4:c.*222A>C NM_001160175.4:c.*222A>T
NAT1 transcript variant 7 NM_001160175.3:c.*222= NM_001160175.3:c.*222A>C NM_001160175.3:c.*222A>T
NAT1 transcript variant 7 NM_001160175.1:c.*222= NM_001160175.1:c.*222A>C NM_001160175.1:c.*222A>T
NAT1 transcript variant 8 NM_001160176.4:c.*222= NM_001160176.4:c.*222A>C NM_001160176.4:c.*222A>T
NAT1 transcript variant 8 NM_001160176.3:c.*222= NM_001160176.3:c.*222A>C NM_001160176.3:c.*222A>T
NAT1 transcript variant 8 NM_001160176.1:c.*222= NM_001160176.1:c.*222A>C NM_001160176.1:c.*222A>T
NAT1 transcript variant 9 NM_001160179.3:c.*222= NM_001160179.3:c.*222A>C NM_001160179.3:c.*222A>T
NAT1 transcript variant 9 NM_001160179.2:c.*222= NM_001160179.2:c.*222A>C NM_001160179.2:c.*222A>T
NAT1 transcript variant 9 NM_001160179.1:c.*222= NM_001160179.1:c.*222A>C NM_001160179.1:c.*222A>T
NAT1 transcript variant 4 NM_001160173.3:c.*222= NM_001160173.3:c.*222A>C NM_001160173.3:c.*222A>T
NAT1 transcript variant 4 NM_001160173.1:c.*222= NM_001160173.1:c.*222A>C NM_001160173.1:c.*222A>T
NAT1 transcript variant 10 NM_001291962.2:c.*222= NM_001291962.2:c.*222A>C NM_001291962.2:c.*222A>T
NAT1 transcript variant 10 NM_001291962.1:c.*222= NM_001291962.1:c.*222A>C NM_001291962.1:c.*222A>T
NAT1 transcript variant 6 NM_001160174.2:c.*222= NM_001160174.2:c.*222A>C NM_001160174.2:c.*222A>T
NAT1 transcript variant 6 NM_001160174.1:c.*222= NM_001160174.1:c.*222A>C NM_001160174.1:c.*222A>T
NAT1 transcript variant X4 XM_006716410.3:c.*222= XM_006716410.3:c.*222A>C XM_006716410.3:c.*222A>T
NAT1 transcript variant X5 XM_011544689.2:c.*222= XM_011544689.2:c.*222A>C XM_011544689.2:c.*222A>T
NAT1 transcript variant X3 XM_017013947.1:c.*222= XM_017013947.1:c.*222A>C XM_017013947.1:c.*222A>T
NAT1 transcript variant X2 XM_011544687.1:c.*222= XM_011544687.1:c.*222A>C XM_011544687.1:c.*222A>T
NAT1 transcript variant X1 XM_011544688.1:c.*222= XM_011544688.1:c.*222A>C XM_011544688.1:c.*222A>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#.

108 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss17971 Sep 19, 2000 (52)
2 SNP500CANCER ss5586785 Jul 02, 2003 (116)
3 RIKENSNPRC ss6311254 Feb 20, 2003 (111)
4 EGP_SNPS ss12584643 Aug 26, 2003 (117)
5 WI_SSAHASNP ss14323986 Dec 05, 2003 (119)
6 CSHL-HAPMAP ss19737012 Feb 27, 2004 (120)
7 PERLEGEN ss23737260 Sep 20, 2004 (123)
8 SEQUENOM ss24801400 Sep 20, 2004 (123)
9 EGP_SNPS ss32478886 May 24, 2005 (125)
10 ILLUMINA ss65740883 Oct 14, 2006 (127)
11 ILLUMINA ss74899595 Dec 07, 2007 (129)
12 HGSV ss81193093 Dec 14, 2007 (130)
13 HGSV ss84283628 Dec 14, 2007 (130)
14 BCMHGSC_JDW ss93848356 Mar 25, 2008 (129)
15 BGI ss104510340 Dec 01, 2009 (131)
16 ILLUMINA-UK ss115860595 Feb 14, 2009 (130)
17 KRIBB_YJKIM ss119339640 Dec 01, 2009 (131)
18 ENSEMBL ss143308732 Dec 01, 2009 (131)
19 GMI ss156098062 Dec 01, 2009 (131)
20 ILLUMINA ss160372156 Dec 01, 2009 (131)
21 ENSEMBL ss161625864 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162205812 Jul 04, 2010 (132)
23 ILLUMINA ss172578477 Jul 04, 2010 (132)
24 BUSHMAN ss198864648 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss206590658 Jul 04, 2010 (132)
26 1000GENOMES ss210477676 Jul 14, 2010 (132)
27 1000GENOMES ss210706271 Jul 14, 2010 (132)
28 1000GENOMES ss223575051 Jul 14, 2010 (132)
29 1000GENOMES ss234344893 Jul 15, 2010 (132)
30 1000GENOMES ss241221178 Jul 15, 2010 (132)
31 ILLUMINA ss244280147 Jul 04, 2010 (132)
32 BL ss254155490 May 09, 2011 (134)
33 GMI ss279716934 May 04, 2012 (137)
34 ILLUMINA ss480032516 May 04, 2012 (137)
35 ILLUMINA ss480041210 May 04, 2012 (137)
36 ILLUMINA ss480706038 Sep 08, 2015 (146)
37 ILLUMINA ss484814371 May 04, 2012 (137)
38 ILLUMINA ss536893651 Sep 08, 2015 (146)
39 ILLUMINA ss778438559 Sep 08, 2015 (146)
40 ILLUMINA ss782853737 Sep 08, 2015 (146)
41 ILLUMINA ss783818220 Sep 08, 2015 (146)
42 ILLUMINA ss832107651 Sep 08, 2015 (146)
43 ILLUMINA ss833894077 Sep 08, 2015 (146)
44 EVA-GONL ss985254187 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1075324504 Aug 21, 2014 (142)
46 1000GENOMES ss1328847138 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397519349 Sep 08, 2015 (146)
48 DDI ss1431435951 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1582585601 Apr 01, 2015 (144)
50 EVA_DECODE ss1594843105 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1620096475 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1663090508 Apr 01, 2015 (144)
53 EVA_SVP ss1713019447 Apr 01, 2015 (144)
54 ILLUMINA ss1752722044 Sep 08, 2015 (146)
55 HAMMER_LAB ss1805424921 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1928543857 Feb 12, 2016 (147)
57 ILLUMINA ss1946231061 Feb 12, 2016 (147)
58 ILLUMINA ss1959092263 Feb 12, 2016 (147)
59 GENOMED ss1970924877 Jul 19, 2016 (147)
60 JJLAB ss2024970101 Sep 14, 2016 (149)
61 USC_VALOUEV ss2153191688 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2301150718 Dec 20, 2016 (150)
63 TOPMED ss2470808557 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2626969937 Nov 08, 2017 (151)
65 ILLUMINA ss2634717616 Nov 08, 2017 (151)
66 ILLUMINA ss2635180426 Nov 08, 2017 (151)
67 GRF ss2708952069 Nov 08, 2017 (151)
68 ILLUMINA ss2711131566 Nov 08, 2017 (151)
69 GNOMAD ss2863915084 Nov 08, 2017 (151)
70 SWEGEN ss3002777619 Nov 08, 2017 (151)
71 ILLUMINA ss3022824303 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3026275454 Nov 08, 2017 (151)
73 CSHL ss3348073220 Nov 08, 2017 (151)
74 TOPMED ss3555475256 Nov 08, 2017 (151)
75 ILLUMINA ss3625946895 Oct 12, 2018 (152)
76 ILLUMINA ss3630009310 Oct 12, 2018 (152)
77 ILLUMINA ss3632618299 Oct 12, 2018 (152)
78 ILLUMINA ss3633492870 Oct 12, 2018 (152)
79 ILLUMINA ss3634219271 Oct 12, 2018 (152)
80 ILLUMINA ss3635161163 Oct 12, 2018 (152)
81 ILLUMINA ss3635898264 Oct 12, 2018 (152)
82 ILLUMINA ss3636897927 Oct 12, 2018 (152)
83 ILLUMINA ss3637651400 Oct 12, 2018 (152)
84 ILLUMINA ss3638747175 Oct 12, 2018 (152)
85 ILLUMINA ss3640868453 Oct 12, 2018 (152)
86 ILLUMINA ss3643679065 Oct 12, 2018 (152)
87 ILLUMINA ss3644964237 Oct 12, 2018 (152)
88 ILLUMINA ss3653365125 Oct 12, 2018 (152)
89 EGCUT_WGS ss3670456220 Jul 13, 2019 (153)
90 EVA_DECODE ss3721523312 Jul 13, 2019 (153)
91 ILLUMINA ss3726518700 Jul 13, 2019 (153)
92 ACPOP ss3735451691 Jul 13, 2019 (153)
93 ILLUMINA ss3744302548 Jul 13, 2019 (153)
94 ILLUMINA ss3745460956 Jul 13, 2019 (153)
95 EVA ss3767696014 Jul 13, 2019 (153)
96 PAGE_CC ss3771427373 Jul 13, 2019 (153)
97 ILLUMINA ss3772953557 Jul 13, 2019 (153)
98 PACBIO ss3786082442 Jul 13, 2019 (153)
99 PACBIO ss3791349251 Jul 13, 2019 (153)
100 PACBIO ss3796230420 Jul 13, 2019 (153)
101 KHV_HUMAN_GENOMES ss3810859220 Jul 13, 2019 (153)
102 EVA ss3825736878 Apr 26, 2020 (154)
103 EVA ss3831045617 Apr 26, 2020 (154)
104 EVA ss3839032461 Apr 26, 2020 (154)
105 EVA ss3844490400 Apr 26, 2020 (154)
106 SGDP_PRJ ss3869401329 Apr 26, 2020 (154)
107 KRGDB ss3916826295 Apr 26, 2020 (154)
108 KOGIC ss3963372457 Apr 26, 2020 (154)
109 1000Genomes NC_000008.10 - 18080651 Oct 12, 2018 (152)
110 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080651 Oct 12, 2018 (152)
111 Genome-wide autozygosity in Daghestan NC_000008.9 - 18124931 Apr 26, 2020 (154)
112 Genetic variation in the Estonian population NC_000008.10 - 18080651 Oct 12, 2018 (152)
113 The Danish reference pan genome NC_000008.10 - 18080651 Apr 26, 2020 (154)
114 gnomAD - Genomes NC_000008.10 - 18080651 Jul 13, 2019 (153)
115 Genome of the Netherlands Release 5 NC_000008.10 - 18080651 Apr 26, 2020 (154)
116 HapMap NC_000008.11 - 18223142 Apr 26, 2020 (154)
117 KOREAN population from KRGDB NC_000008.10 - 18080651 Apr 26, 2020 (154)
118 Korean Genome Project NC_000008.11 - 18223142 Apr 26, 2020 (154)
119 Northern Sweden NC_000008.10 - 18080651 Jul 13, 2019 (153)
120 The PAGE Study NC_000008.11 - 18223142 Jul 13, 2019 (153)
121 Qatari NC_000008.10 - 18080651 Apr 26, 2020 (154)
122 SGDP_PRJ NC_000008.10 - 18080651 Apr 26, 2020 (154)
123 Siberian NC_000008.10 - 18080651 Apr 26, 2020 (154)
124 TopMed NC_000008.11 - 18223142 Oct 12, 2018 (152)
125 UK 10K study - Twins NC_000008.10 - 18080651 Oct 12, 2018 (152)
126 dbGaP Population Frequency Project NC_000008.11 - 18223142 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)
rs3197752 Jul 03, 2002 (106)
rs57085971 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493254, ss81193093, ss84283628, ss93848356, ss115860595, ss162205812, ss198864648, ss206590658, ss210477676, ss210706271, ss254155490, ss279716934, ss480032516, ss1397519349, ss1594843105, ss1713019447, ss2635180426, ss3643679065 NC_000008.9:18124930:A:C NC_000008.11:18223141:A:C (self)
40940122, 22757082, 16194468, 8750539, 111829340, 10168801, 24003689, 8736556, 10585787, 21418309, 5708042, 22757082, ss223575051, ss234344893, ss241221178, ss480041210, ss480706038, ss484814371, ss536893651, ss778438559, ss782853737, ss783818220, ss832107651, ss833894077, ss985254187, ss1075324504, ss1328847138, ss1431435951, ss1582585601, ss1620096475, ss1663090508, ss1752722044, ss1805424921, ss1928543857, ss1946231061, ss1959092263, ss1970924877, ss2024970101, ss2153191688, ss2470808557, ss2626969937, ss2634717616, ss2708952069, ss2711131566, ss2863915084, ss3002777619, ss3022824303, ss3348073220, ss3625946895, ss3630009310, ss3632618299, ss3633492870, ss3634219271, ss3635161163, ss3635898264, ss3636897927, ss3637651400, ss3638747175, ss3640868453, ss3644964237, ss3653365125, ss3670456220, ss3735451691, ss3744302548, ss3745460956, ss3767696014, ss3772953557, ss3786082442, ss3791349251, ss3796230420, ss3825736878, ss3831045617, ss3839032461, ss3869401329, ss3916826295 NC_000008.10:18080650:A:C NC_000008.11:18223141:A:C (self)
3577056, 19750458, 648842, 384349626, 282423987, ss2301150718, ss3026275454, ss3555475256, ss3721523312, ss3726518700, ss3771427373, ss3810859220, ss3844490400, ss3963372457 NC_000008.11:18223141:A:C NC_000008.11:18223141:A:C (self)
ss14323986, ss19737012 NT_030737.8:5891571:A:C NC_000008.11:18223141:A:C (self)
ss17971, ss5586785, ss6311254, ss12584643, ss23737260, ss24801400, ss32478886, ss65740883, ss74899595, ss104510340, ss119339640, ss143308732, ss156098062, ss160372156, ss161625864, ss172578477, ss244280147 NT_167187.1:5938796:A:C NC_000008.11:18223141:A:C (self)
24003689, ss3916826295 NC_000008.10:18080650:A:T NC_000008.11:18223141:A:T
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 rs15561
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
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
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
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
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
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.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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