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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.

rs4986782

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222607 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.014469 (3616/249910, GnomAD_exome)
A=0.011149 (1400/125568, TOPMED)
A=0.014147 (1714/121160, ExAC) (+ 17 more)
A=0.018411 (2103/114224, ALFA Project)
A=0.00555 (437/78698, PAGE_STUDY)
A=0.01696 (532/31362, GnomAD)
A=0.01261 (164/13006, GO-ESP)
A=0.0056 (28/5008, 1000G)
A=0.0179 (80/4480, Estonian)
A=0.0166 (64/3854, ALSPAC)
A=0.0205 (76/3708, TWINSUK)
A=0.0079 (9/1136, Daghestan)
A=0.033 (33/998, GoNL)
A=0.017 (10/600, NorthernSweden)
A=0.017 (9/534, MGP)
A=0.053 (16/304, FINRISK)
G=0.5 (5/10, SGDP_PRJ)
A=0.5 (5/10, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Missense Variant
Publications
20 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.18222607G>A
GRCh37.p13 chr 8 NC_000008.10:g.18080116G>A
NAT1 RefSeqGene NG_012245.2:g.57146G>A
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.746G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg249Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg187Gln R (Arg) > Q (Gln) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.560G>A R [CGA] > Q [CAA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg187Gln R (Arg) > Q (Gln) Missense 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 237236 G=0.982431 A=0.017569
European Sub 200656 G=0.980763 A=0.019237
African Sub 8128 G=0.9962 A=0.0038
African Others Sub 276 G=1.000 A=0.000
African American Sub 7852 G=0.9961 A=0.0039
Asian Sub 6690 G=1.0000 A=0.0000
East Asian Sub 4800 G=1.0000 A=0.0000
Other Asian Sub 1890 G=1.0000 A=0.0000
Latin American 1 Sub 1186 G=0.9916 A=0.0084
Latin American 2 Sub 1254 G=0.9928 A=0.0072
South Asian Sub 346 G=1.000 A=0.000
Other Sub 18976 G=0.98640 A=0.01360


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 249910 G=0.985531 A=0.014469
gnomAD - Exomes European Sub 134628 G=0.976662 A=0.023338
gnomAD - Exomes Asian Sub 48762 G=0.99774 A=0.00226
gnomAD - Exomes American Sub 34290 G=0.99411 A=0.00589
gnomAD - Exomes African Sub 16216 G=0.99679 A=0.00321
gnomAD - Exomes Ashkenazi Jewish Sub 9950 G=0.9969 A=0.0031
gnomAD - Exomes Other Sub 6064 G=0.9870 A=0.0130
TopMed Global Study-wide 125568 G=0.988851 A=0.011149
ExAC Global Study-wide 121160 G=0.985853 A=0.014147
ExAC Europe Sub 73242 G=0.97900 A=0.02100
ExAC Asian Sub 25104 G=0.99749 A=0.00251
ExAC American Sub 11524 G=0.99453 A=0.00547
ExAC African Sub 10384 G=0.99682 A=0.00318
ExAC Other Sub 906 G=0.981 A=0.019
ALFA Total Global 114224 G=0.981589 A=0.018411
ALFA European Sub 101538 G=0.980529 A=0.019471
ALFA Other Sub 8648 G=0.9870 A=0.0130
ALFA African Sub 3334 G=0.9967 A=0.0033
ALFA Latin American 1 Sub 360 G=0.997 A=0.003
ALFA Asian Sub 196 G=1.000 A=0.000
ALFA Latin American 2 Sub 84 G=0.98 A=0.02
ALFA South Asian Sub 64 G=1.00 A=0.00
The PAGE Study Global Study-wide 78698 G=0.99445 A=0.00555
The PAGE Study AfricanAmerican Sub 32512 G=0.99674 A=0.00326
The PAGE Study Mexican Sub 10810 G=0.99167 A=0.00833
The PAGE Study Asian Sub 8318 G=0.9998 A=0.0002
The PAGE Study PuertoRican Sub 7918 G=0.9924 A=0.0076
The PAGE Study NativeHawaiian Sub 4534 G=0.9956 A=0.0044
The PAGE Study Cuban Sub 4230 G=0.9816 A=0.0184
The PAGE Study Dominican Sub 3828 G=0.9937 A=0.0063
The PAGE Study CentralAmerican Sub 2450 G=0.9955 A=0.0045
The PAGE Study SouthAmerican Sub 1982 G=0.9884 A=0.0116
The PAGE Study NativeAmerican Sub 1260 G=0.9825 A=0.0175
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
gnomAD - Genomes Global Study-wide 31362 G=0.98304 A=0.01696
gnomAD - Genomes European Sub 18882 G=0.97468 A=0.02532
gnomAD - Genomes African Sub 8698 G=0.9972 A=0.0028
gnomAD - Genomes East Asian Sub 1560 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1086 G=0.9788 A=0.0212
gnomAD - Genomes American Sub 846 G=0.992 A=0.008
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.98739 A=0.01261
GO Exome Sequencing Project European American Sub 8600 G=0.9831 A=0.0169
GO Exome Sequencing Project African American Sub 4406 G=0.9957 A=0.0043
1000Genomes Global Study-wide 5008 G=0.9944 A=0.0056
1000Genomes African Sub 1322 G=0.9985 A=0.0015
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9801 A=0.0199
1000Genomes South Asian Sub 978 G=0.997 A=0.003
1000Genomes American Sub 694 G=0.996 A=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9821 A=0.0179
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9834 A=0.0166
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9795 A=0.0205
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.9921 A=0.0079
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.997 A=0.003
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.993 A=0.007
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.992 A=0.008
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.963 A=0.037
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.99 A=0.01
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.967 A=0.033
Northern Sweden ACPOP Study-wide 600 G=0.983 A=0.017
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.983 A=0.017
FINRISK Finnish from FINRISK project Study-wide 304 G=0.947 A=0.053
SGDP_PRJ Global Study-wide 10 G=0.5 A=0.5
Siberian Global Study-wide 2 G=0.5 A=0.5
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 G= A
GRCh38.p12 chr 8 NC_000008.11:g.18222607= NC_000008.11:g.18222607G>A
GRCh37.p13 chr 8 NC_000008.10:g.18080116= NC_000008.10:g.18080116G>A
NAT1 RefSeqGene NG_012245.2:g.57146= NG_012245.2:g.57146G>A
NAT1 transcript variant 5 NM_000662.8:c.560= NM_000662.8:c.560G>A
NAT1 transcript variant 5 NM_000662.7:c.560= NM_000662.7:c.560G>A
NAT1 transcript variant 5 NM_000662.5:c.560= NM_000662.5:c.560G>A
NAT1 transcript variant 1 NM_001160170.4:c.560= NM_001160170.4:c.560G>A
NAT1 transcript variant 1 NM_001160170.3:c.560= NM_001160170.3:c.560G>A
NAT1 transcript variant 1 NM_001160170.1:c.560= NM_001160170.1:c.560G>A
NAT1 transcript variant 2 NM_001160171.4:c.560= NM_001160171.4:c.560G>A
NAT1 transcript variant 2 NM_001160171.3:c.560= NM_001160171.3:c.560G>A
NAT1 transcript variant 2 NM_001160171.1:c.560= NM_001160171.1:c.560G>A
NAT1 transcript variant 3 NM_001160172.4:c.560= NM_001160172.4:c.560G>A
NAT1 transcript variant 3 NM_001160172.3:c.560= NM_001160172.3:c.560G>A
NAT1 transcript variant 3 NM_001160172.1:c.560= NM_001160172.1:c.560G>A
NAT1 transcript variant 7 NM_001160175.4:c.746= NM_001160175.4:c.746G>A
NAT1 transcript variant 7 NM_001160175.3:c.746= NM_001160175.3:c.746G>A
NAT1 transcript variant 7 NM_001160175.1:c.746= NM_001160175.1:c.746G>A
NAT1 transcript variant 8 NM_001160176.4:c.746= NM_001160176.4:c.746G>A
NAT1 transcript variant 8 NM_001160176.3:c.746= NM_001160176.3:c.746G>A
NAT1 transcript variant 8 NM_001160176.1:c.746= NM_001160176.1:c.746G>A
NAT1 transcript variant 9 NM_001160179.3:c.560= NM_001160179.3:c.560G>A
NAT1 transcript variant 9 NM_001160179.2:c.560= NM_001160179.2:c.560G>A
NAT1 transcript variant 9 NM_001160179.1:c.560= NM_001160179.1:c.560G>A
NAT1 transcript variant 4 NM_001160173.3:c.560= NM_001160173.3:c.560G>A
NAT1 transcript variant 4 NM_001160173.1:c.560= NM_001160173.1:c.560G>A
NAT1 transcript variant 10 NM_001291962.2:c.746= NM_001291962.2:c.746G>A
NAT1 transcript variant 10 NM_001291962.1:c.746= NM_001291962.1:c.746G>A
NAT1 transcript variant 6 NM_001160174.2:c.560= NM_001160174.2:c.560G>A
NAT1 transcript variant 6 NM_001160174.1:c.560= NM_001160174.1:c.560G>A
NAT1 transcript variant X4 XM_006716410.3:c.560= XM_006716410.3:c.560G>A
NAT1 transcript variant X5 XM_011544689.2:c.560= XM_011544689.2:c.560G>A
NAT1 transcript variant X3 XM_017013947.1:c.746= XM_017013947.1:c.746G>A
NAT1 transcript variant X2 XM_011544687.1:c.746= XM_011544687.1:c.746G>A
NAT1 transcript variant X1 XM_011544688.1:c.746= XM_011544688.1:c.746G>A
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg187= NP_000653.3:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg187= NP_001153642.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg187= NP_001153643.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg187= NP_001153644.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg249= NP_001153647.1:p.Arg249Gln
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg249= NP_001153648.1:p.Arg249Gln
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg187= NP_001153651.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg187= NP_001153645.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg249= NP_001278891.1:p.Arg249Gln
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg187= NP_001153646.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg187= XP_006716473.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg187= XP_011542991.1:p.Arg187Gln
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg249= XP_016869436.1:p.Arg249Gln
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg249= XP_011542989.1:p.Arg249Gln
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg249= XP_011542990.1:p.Arg249Gln
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#.

72 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss7986005 Mar 31, 2003 (113)
2 SSAHASNP ss22658194 Apr 05, 2004 (126)
3 ABI ss43200569 Mar 11, 2006 (126)
4 APPLERA_GI ss48424821 Mar 11, 2006 (126)
5 PERLEGEN ss69042331 May 18, 2007 (127)
6 AFFY ss74821289 Aug 16, 2007 (128)
7 ILLUMINA ss75234522 Dec 05, 2007 (129)
8 HUMANGENOME_JCVI ss98055083 Feb 03, 2009 (130)
9 ENSEMBL ss134466897 Dec 01, 2009 (131)
10 ILLUMINA ss160735740 Dec 01, 2009 (131)
11 ILLUMINA ss173903375 Jul 04, 2010 (132)
12 PJP ss294230612 May 09, 2011 (134)
13 1000GENOMES ss334724009 May 09, 2011 (134)
14 NHLBI-ESP ss342253586 May 09, 2011 (134)
15 ILLUMINA ss482136893 Sep 08, 2015 (146)
16 1000GENOMES ss490960710 May 04, 2012 (137)
17 EXOME_CHIP ss491410743 May 04, 2012 (137)
18 CLINSEQ_SNP ss491921830 May 04, 2012 (137)
19 GOLDSTEINLAB ss507879520 May 04, 2012 (137)
20 ILLUMINA ss537302751 Sep 08, 2015 (146)
21 ILLUMINA ss780867813 Sep 08, 2015 (146)
22 ILLUMINA ss783552744 Sep 08, 2015 (146)
23 EVA-GONL ss985254179 Aug 21, 2014 (142)
24 1000GENOMES ss1328847119 Aug 21, 2014 (142)
25 HAMMER_LAB ss1397519347 Sep 08, 2015 (146)
26 EVA_FINRISK ss1584057282 Apr 01, 2015 (144)
27 EVA_DECODE ss1594843097 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1620096460 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1663090493 Apr 01, 2015 (144)
30 EVA_EXAC ss1689107686 Apr 01, 2015 (144)
31 EVA_MGP ss1711194378 Apr 01, 2015 (144)
32 ILLUMINA ss1752722038 Sep 08, 2015 (146)
33 ILLUMINA ss1917826194 Feb 12, 2016 (147)
34 ILLUMINA ss1946231054 Feb 12, 2016 (147)
35 ILLUMINA ss1959092252 Feb 12, 2016 (147)
36 USC_VALOUEV ss2153191686 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2301150672 Dec 20, 2016 (150)
38 TOPMED ss2470808524 Dec 20, 2016 (150)
39 ILLUMINA ss2634717608 Nov 08, 2017 (151)
40 ILLUMINA ss2635180425 Nov 08, 2017 (151)
41 GNOMAD ss2737016438 Nov 08, 2017 (151)
42 GNOMAD ss2748005863 Nov 08, 2017 (151)
43 GNOMAD ss2863915038 Nov 08, 2017 (151)
44 AFFY ss2985432571 Nov 08, 2017 (151)
45 AFFY ss2986074624 Nov 08, 2017 (151)
46 SWEGEN ss3002777606 Nov 08, 2017 (151)
47 ILLUMINA ss3022824293 Nov 08, 2017 (151)
48 CSHL ss3348073218 Nov 08, 2017 (151)
49 TOPMED ss3555475139 Nov 08, 2017 (151)
50 ILLUMINA ss3630009300 Oct 12, 2018 (152)
51 ILLUMINA ss3630009301 Oct 12, 2018 (152)
52 ILLUMINA ss3635161157 Oct 12, 2018 (152)
53 ILLUMINA ss3636897920 Oct 12, 2018 (152)
54 ILLUMINA ss3638747170 Oct 12, 2018 (152)
55 ILLUMINA ss3640868447 Oct 12, 2018 (152)
56 ILLUMINA ss3643679060 Oct 12, 2018 (152)
57 ILLUMINA ss3644964230 Oct 12, 2018 (152)
58 URBANLAB ss3648864490 Oct 12, 2018 (152)
59 ILLUMINA ss3653365115 Oct 12, 2018 (152)
60 ILLUMINA ss3654194359 Oct 12, 2018 (152)
61 EGCUT_WGS ss3670456206 Jul 13, 2019 (153)
62 EVA_DECODE ss3721523295 Jul 13, 2019 (153)
63 ILLUMINA ss3726518692 Jul 13, 2019 (153)
64 ACPOP ss3735451683 Jul 13, 2019 (153)
65 ILLUMINA ss3744577622 Jul 13, 2019 (153)
66 ILLUMINA ss3745460950 Jul 13, 2019 (153)
67 PAGE_CC ss3771427365 Jul 13, 2019 (153)
68 ILLUMINA ss3772953551 Jul 13, 2019 (153)
69 EVA ss3824350592 Apr 26, 2020 (154)
70 EVA ss3825736873 Apr 26, 2020 (154)
71 EVA ss3831045615 Apr 26, 2020 (154)
72 SGDP_PRJ ss3869401320 Apr 26, 2020 (154)
73 1000Genomes NC_000008.10 - 18080116 Oct 12, 2018 (152)
74 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080116 Oct 12, 2018 (152)
75 Genome-wide autozygosity in Daghestan NC_000008.9 - 18124396 Apr 26, 2020 (154)
76 Genetic variation in the Estonian population NC_000008.10 - 18080116 Oct 12, 2018 (152)
77 ExAC NC_000008.10 - 18080116 Oct 12, 2018 (152)
78 FINRISK NC_000008.10 - 18080116 Apr 26, 2020 (154)
79 gnomAD - Genomes NC_000008.10 - 18080116 Jul 13, 2019 (153)
80 gnomAD - Exomes NC_000008.10 - 18080116 Jul 13, 2019 (153)
81 GO Exome Sequencing Project NC_000008.10 - 18080116 Oct 12, 2018 (152)
82 Genome of the Netherlands Release 5 NC_000008.10 - 18080116 Apr 26, 2020 (154)
83 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080116 Apr 26, 2020 (154)
84 Northern Sweden NC_000008.10 - 18080116 Jul 13, 2019 (153)
85 The PAGE Study NC_000008.11 - 18222607 Jul 13, 2019 (153)
86 SGDP_PRJ NC_000008.10 - 18080116 Apr 26, 2020 (154)
87 Siberian NC_000008.10 - 18080116 Apr 26, 2020 (154)
88 TopMed NC_000008.11 - 18222607 Oct 12, 2018 (152)
89 UK 10K study - Twins NC_000008.10 - 18080116 Oct 12, 2018 (152)
90 dbGaP Population Frequency Project NC_000008.11 - 18222607 Apr 26, 2020 (154)
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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)
rs13249533 Mar 11, 2006 (126)
rs52821115 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493252, ss294230612, ss491921830, ss507879520, ss1397519347, ss1594843097, ss2635180425, ss3643679060 NC_000008.9:18124395:G:A NC_000008.11:18222606:G:A (self)
40940102, 22757066, 16194454, 9201032, 53743, 111829286, 6184348, 808452, 10168793, 310138, 8736548, 21418300, 5708040, 22757066, ss334724009, ss342253586, ss482136893, ss490960710, ss491410743, ss537302751, ss780867813, ss783552744, ss985254179, ss1328847119, ss1584057282, ss1620096460, ss1663090493, ss1689107686, ss1711194378, ss1752722038, ss1917826194, ss1946231054, ss1959092252, ss2153191686, ss2470808524, ss2634717608, ss2737016438, ss2748005863, ss2863915038, ss2985432571, ss2986074624, ss3002777606, ss3022824293, ss3348073218, ss3630009300, ss3630009301, ss3635161157, ss3636897920, ss3638747170, ss3640868447, ss3644964230, ss3653365115, ss3654194359, ss3670456206, ss3735451683, ss3744577622, ss3745460950, ss3772953551, ss3824350592, ss3825736873, ss3831045615, ss3869401320 NC_000008.10:18080115:G:A NC_000008.11:18222606:G:A (self)
648834, 384349531, 701093007, ss2301150672, ss3555475139, ss3648864490, ss3721523295, ss3726518692, ss3771427365 NC_000008.11:18222606:G:A NC_000008.11:18222606:G:A (self)
ss22658194 NT_030737.8:5891036:G:A NC_000008.11:18222606:G:A (self)
ss7986005, ss43200569, ss48424821, ss69042331, ss74821289, ss75234522, ss98055083, ss134466897, ss160735740, ss173903375 NT_167187.1:5938261:G:A NC_000008.11:18222606:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

20 citations for rs4986782
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)
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
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
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
22010219 Phenotype of the most common "slow acetylator" arylamine N-acetyltransferase 1 genetic variant (NAT1*14B) is substrate-dependent. Millner LM et al. 2012 Drug metabolism and disposition
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
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
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
26803317 Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight. Marceau K et al. 2016 Behavior 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
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
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
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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