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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.

rs4986990

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222506 (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=0.020336 (5107/251132, GnomAD_exome)
A=0.025798 (4086/158382, ALFA Project)
A=0.018309 (2299/125568, TOPMED) (+ 20 more)
A=0.020934 (2540/121332, ExAC)
A=0.00989 (778/78696, PAGE_STUDY)
A=0.01840 (577/31362, GnomAD)
A=0.01707 (222/13006, GO-ESP)
A=0.0170 (85/5008, 1000G)
A=0.0328 (147/4480, Estonian)
A=0.0171 (66/3854, ALSPAC)
A=0.0165 (61/3708, TWINSUK)
A=0.0041 (12/2920, KOREAN)
A=0.0060 (11/1832, Korea1K)
A=0.0213 (38/1786, HapMap)
A=0.023 (23/998, GoNL)
A=0.010 (6/614, Vietnamese)
A=0.012 (7/600, NorthernSweden)
A=0.024 (13/534, MGP)
A=0.003 (1/360, PharmGKB)
A=0.003 (1/304, FINRISK)
A=0.102 (22/216, Qatari)
G=0.50 (12/24, SGDP_PRJ)
A=0.50 (12/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Synonymous Variant
Publications
7 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.18222506G>A
GRCh37.p13 chr 8 NC_000008.10:g.18080015G>A
NAT1 RefSeqGene NG_012245.2:g.57045G>A
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 4 NM_001160173.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 5 NM_000662.8:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 1 NM_001160170.4:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 8 NM_001160176.4:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 10 NM_001291962.2:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 9 NM_001160179.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 2 NM_001160171.4:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 7 NM_001160175.4:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant 3 NM_001160172.4:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant X2 XM_011544687.1:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant X1 XM_011544688.1:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant X3 XM_017013947.1:c.645G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Thr215= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant X4 XM_006716410.3:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
NAT1 transcript variant X5 XM_011544689.2:c.459G>A T [ACG] > T [ACA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Thr153= T (Thr) > T (Thr) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

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 336796 G=0.973322 A=0.026678
European Sub 292278 G=0.972033 A=0.027967
African Sub 11038 G=0.99384 A=0.00616
African Others Sub 410 G=0.998 A=0.002
African American Sub 10628 G=0.99370 A=0.00630
Asian Sub 4000 G=0.9905 A=0.0095
East Asian Sub 3224 G=0.9947 A=0.0053
Other Asian Sub 776 G=0.973 A=0.027
Latin American 1 Sub 1488 G=0.9778 A=0.0222
Latin American 2 Sub 7238 G=0.9883 A=0.0117
South Asian Sub 5222 G=0.9759 A=0.0241
Other Sub 15532 G=0.97032 A=0.02968


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 251132 G=0.979664 A=0.020336
gnomAD - Exomes European Sub 135120 G=0.977331 A=0.022669
gnomAD - Exomes Asian Sub 49004 G=0.97982 A=0.02018
gnomAD - Exomes American Sub 34562 G=0.98880 A=0.01120
gnomAD - Exomes African Sub 16254 G=0.99619 A=0.00381
gnomAD - Exomes Ashkenazi Jewish Sub 10068 G=0.95739 A=0.04261
gnomAD - Exomes Other Sub 6124 G=0.9711 A=0.0289
ALFA Total Global 158382 G=0.974202 A=0.025798
ALFA European Sub 135468 G=0.972628 A=0.027372
ALFA African Sub 6402 G=0.9925 A=0.0075
ALFA Latin American 2 Sub 5434 G=0.9895 A=0.0105
ALFA Other Sub 5264 G=0.9732 A=0.0268
ALFA South Asian Sub 4898 G=0.9763 A=0.0237
ALFA Latin American 1 Sub 562 G=0.980 A=0.020
ALFA Asian Sub 354 G=0.986 A=0.014
TopMed Global Study-wide 125568 G=0.981691 A=0.018309
ExAC Global Study-wide 121332 G=0.979066 A=0.020934
ExAC Europe Sub 73328 G=0.97528 A=0.02472
ExAC Asian Sub 25156 G=0.97849 A=0.02151
ExAC American Sub 11540 G=0.98960 A=0.01040
ExAC African Sub 10400 G=0.99644 A=0.00356
ExAC Other Sub 908 G=0.968 A=0.032
The PAGE Study Global Study-wide 78696 G=0.99011 A=0.00989
The PAGE Study AfricanAmerican Sub 32512 G=0.99508 A=0.00492
The PAGE Study Mexican Sub 10810 G=0.98298 A=0.01702
The PAGE Study Asian Sub 8316 G=0.9949 A=0.0051
The PAGE Study PuertoRican Sub 7918 G=0.9857 A=0.0143
The PAGE Study NativeHawaiian Sub 4534 G=0.9894 A=0.0106
The PAGE Study Cuban Sub 4230 G=0.9787 A=0.0213
The PAGE Study Dominican Sub 3828 G=0.9906 A=0.0094
The PAGE Study CentralAmerican Sub 2450 G=0.9861 A=0.0139
The PAGE Study SouthAmerican Sub 1982 G=0.9849 A=0.0151
The PAGE Study NativeAmerican Sub 1260 G=0.9857 A=0.0143
The PAGE Study SouthAsian Sub 856 G=0.973 A=0.027
gnomAD - Genomes Global Study-wide 31362 G=0.98160 A=0.01840
gnomAD - Genomes European Sub 18886 G=0.97522 A=0.02478
gnomAD - Genomes African Sub 8696 G=0.9943 A=0.0057
gnomAD - Genomes East Asian Sub 1560 G=0.9917 A=0.0083
gnomAD - Genomes Other Sub 1084 G=0.9788 A=0.0212
gnomAD - Genomes American Sub 846 G=0.987 A=0.013
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.959 A=0.041
GO Exome Sequencing Project Global Study-wide 13006 G=0.98293 A=0.01707
GO Exome Sequencing Project European American Sub 8600 G=0.9760 A=0.0240
GO Exome Sequencing Project African American Sub 4406 G=0.9964 A=0.0036
1000Genomes Global Study-wide 5008 G=0.9830 A=0.0170
1000Genomes African Sub 1322 G=0.9970 A=0.0030
1000Genomes East Asian Sub 1008 G=0.9931 A=0.0069
1000Genomes Europe Sub 1006 G=0.9751 A=0.0249
1000Genomes South Asian Sub 978 G=0.959 A=0.041
1000Genomes American Sub 694 G=0.987 A=0.013
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9672 A=0.0328
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9829 A=0.0171
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9835 A=0.0165
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.9959 A=0.0041
Korean Genome Project KOREAN Study-wide 1832 G=0.9940 A=0.0060
HapMap Global Study-wide 1786 G=0.9787 A=0.0213
HapMap African Sub 684 G=0.994 A=0.006
HapMap American Sub 672 G=0.966 A=0.034
HapMap Asian Sub 254 G=0.984 A=0.016
HapMap Europe Sub 176 G=0.960 A=0.040
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.977 A=0.023
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.990 A=0.010
Northern Sweden ACPOP Study-wide 600 G=0.988 A=0.012
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.976 A=0.024
PharmGKB Aggregated Global Study-wide 360 G=0.997 A=0.003
PharmGKB Aggregated PA147979305 Sub 360 G=0.997 A=0.003
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
Qatari Global Study-wide 216 G=0.898 A=0.102
SGDP_PRJ Global Study-wide 24 G=0.50 A=0.50
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.18222506= NC_000008.11:g.18222506G>A
GRCh37.p13 chr 8 NC_000008.10:g.18080015= NC_000008.10:g.18080015G>A
NAT1 RefSeqGene NG_012245.2:g.57045= NG_012245.2:g.57045G>A
NAT1 transcript variant 5 NM_000662.8:c.459= NM_000662.8:c.459G>A
NAT1 transcript variant 5 NM_000662.7:c.459= NM_000662.7:c.459G>A
NAT1 transcript variant 5 NM_000662.5:c.459= NM_000662.5:c.459G>A
NAT1 transcript variant 1 NM_001160170.4:c.459= NM_001160170.4:c.459G>A
NAT1 transcript variant 1 NM_001160170.3:c.459= NM_001160170.3:c.459G>A
NAT1 transcript variant 1 NM_001160170.1:c.459= NM_001160170.1:c.459G>A
NAT1 transcript variant 2 NM_001160171.4:c.459= NM_001160171.4:c.459G>A
NAT1 transcript variant 2 NM_001160171.3:c.459= NM_001160171.3:c.459G>A
NAT1 transcript variant 2 NM_001160171.1:c.459= NM_001160171.1:c.459G>A
NAT1 transcript variant 3 NM_001160172.4:c.459= NM_001160172.4:c.459G>A
NAT1 transcript variant 3 NM_001160172.3:c.459= NM_001160172.3:c.459G>A
NAT1 transcript variant 3 NM_001160172.1:c.459= NM_001160172.1:c.459G>A
NAT1 transcript variant 7 NM_001160175.4:c.645= NM_001160175.4:c.645G>A
NAT1 transcript variant 7 NM_001160175.3:c.645= NM_001160175.3:c.645G>A
NAT1 transcript variant 7 NM_001160175.1:c.645= NM_001160175.1:c.645G>A
NAT1 transcript variant 8 NM_001160176.4:c.645= NM_001160176.4:c.645G>A
NAT1 transcript variant 8 NM_001160176.3:c.645= NM_001160176.3:c.645G>A
NAT1 transcript variant 8 NM_001160176.1:c.645= NM_001160176.1:c.645G>A
NAT1 transcript variant 9 NM_001160179.3:c.459= NM_001160179.3:c.459G>A
NAT1 transcript variant 9 NM_001160179.2:c.459= NM_001160179.2:c.459G>A
NAT1 transcript variant 9 NM_001160179.1:c.459= NM_001160179.1:c.459G>A
NAT1 transcript variant 4 NM_001160173.3:c.459= NM_001160173.3:c.459G>A
NAT1 transcript variant 4 NM_001160173.1:c.459= NM_001160173.1:c.459G>A
NAT1 transcript variant 10 NM_001291962.2:c.645= NM_001291962.2:c.645G>A
NAT1 transcript variant 10 NM_001291962.1:c.645= NM_001291962.1:c.645G>A
NAT1 transcript variant 6 NM_001160174.2:c.459= NM_001160174.2:c.459G>A
NAT1 transcript variant 6 NM_001160174.1:c.459= NM_001160174.1:c.459G>A
NAT1 transcript variant X4 XM_006716410.3:c.459= XM_006716410.3:c.459G>A
NAT1 transcript variant X5 XM_011544689.2:c.459= XM_011544689.2:c.459G>A
NAT1 transcript variant X3 XM_017013947.1:c.645= XM_017013947.1:c.645G>A
NAT1 transcript variant X2 XM_011544687.1:c.645= XM_011544687.1:c.645G>A
NAT1 transcript variant X1 XM_011544688.1:c.645= XM_011544688.1:c.645G>A
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Thr153= NP_000653.3:p.Thr153=
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Thr153= NP_001153642.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Thr153= NP_001153643.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Thr153= NP_001153644.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Thr215= NP_001153647.1:p.Thr215=
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Thr215= NP_001153648.1:p.Thr215=
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Thr153= NP_001153651.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Thr153= NP_001153645.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Thr215= NP_001278891.1:p.Thr215=
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Thr153= NP_001153646.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Thr153= XP_006716473.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Thr153= XP_011542991.1:p.Thr153=
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Thr215= XP_016869436.1:p.Thr215=
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Thr215= XP_011542989.1:p.Thr215=
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Thr215= XP_011542990.1:p.Thr215=
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#.

90 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586788 Mar 31, 2003 (113)
2 PERLEGEN ss24180119 Sep 20, 2004 (123)
3 EGP_SNPS ss32478881 May 24, 2005 (125)
4 ILLUMINA ss75232327 Dec 07, 2007 (129)
5 PHARMGKB_AB_DME ss84168371 Dec 15, 2007 (130)
6 KRIBB_YJKIM ss119497110 Dec 01, 2009 (131)
7 ILLUMINA ss154334569 Dec 01, 2009 (131)
8 ILLUMINA ss159511092 Dec 01, 2009 (131)
9 ILLUMINA ss160735779 Dec 01, 2009 (131)
10 ILLUMINA ss173903473 Jul 04, 2010 (132)
11 1000GENOMES ss234344890 Jul 15, 2010 (132)
12 ILLUMINA ss244302411 Jul 04, 2010 (132)
13 NHLBI-ESP ss342253583 May 09, 2011 (134)
14 ILLUMINA ss481125921 May 04, 2012 (137)
15 ILLUMINA ss481148073 May 04, 2012 (137)
16 ILLUMINA ss482137011 Sep 08, 2015 (146)
17 ILLUMINA ss485358036 May 04, 2012 (137)
18 1000GENOMES ss490960707 May 04, 2012 (137)
19 CLINSEQ_SNP ss491921828 May 04, 2012 (137)
20 ILLUMINA ss537302784 Sep 08, 2015 (146)
21 SSMP ss655023160 Apr 25, 2013 (138)
22 ILLUMINA ss778927511 Sep 08, 2015 (146)
23 ILLUMINA ss783124727 Sep 08, 2015 (146)
24 ILLUMINA ss784081380 Sep 08, 2015 (146)
25 ILLUMINA ss832383550 Sep 08, 2015 (146)
26 ILLUMINA ss833022403 Jul 13, 2019 (153)
27 ILLUMINA ss834389012 Sep 08, 2015 (146)
28 EVA-GONL ss985254177 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1067495856 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1075324499 Aug 21, 2014 (142)
31 1000GENOMES ss1328847114 Aug 21, 2014 (142)
32 DDI ss1431435948 Apr 01, 2015 (144)
33 EVA_FINRISK ss1584057281 Apr 01, 2015 (144)
34 EVA_DECODE ss1594843095 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1620096456 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1663090489 Apr 01, 2015 (144)
37 EVA_EXAC ss1689107665 Apr 01, 2015 (144)
38 EVA_MGP ss1711194376 Apr 01, 2015 (144)
39 EVA_SVP ss1713019445 Apr 01, 2015 (144)
40 ILLUMINA ss1752722035 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1928543853 Feb 12, 2016 (147)
42 ILLUMINA ss1946231049 Feb 12, 2016 (147)
43 ILLUMINA ss1959092245 Feb 12, 2016 (147)
44 JJLAB ss2024970097 Sep 14, 2016 (149)
45 HUMAN_LONGEVITY ss2301150662 Dec 20, 2016 (150)
46 TOPMED ss2470808517 Dec 20, 2016 (150)
47 ILLUMINA ss2634717602 Nov 08, 2017 (151)
48 ILLUMINA ss2634717603 Nov 08, 2017 (151)
49 ILLUMINA ss2635180424 Nov 08, 2017 (151)
50 GRF ss2708952063 Nov 08, 2017 (151)
51 ILLUMINA ss2711131556 Nov 08, 2017 (151)
52 GNOMAD ss2737016411 Nov 08, 2017 (151)
53 GNOMAD ss2748005860 Nov 08, 2017 (151)
54 GNOMAD ss2863915035 Nov 08, 2017 (151)
55 AFFY ss2985432568 Nov 08, 2017 (151)
56 AFFY ss2986074622 Nov 08, 2017 (151)
57 SWEGEN ss3002777604 Nov 08, 2017 (151)
58 ILLUMINA ss3022824288 Nov 08, 2017 (151)
59 TOPMED ss3555475120 Nov 08, 2017 (151)
60 ILLUMINA ss3625946888 Oct 12, 2018 (152)
61 ILLUMINA ss3630009295 Oct 12, 2018 (152)
62 ILLUMINA ss3632618294 Oct 12, 2018 (152)
63 ILLUMINA ss3633492866 Oct 12, 2018 (152)
64 ILLUMINA ss3634219267 Oct 12, 2018 (152)
65 ILLUMINA ss3635161153 Oct 12, 2018 (152)
66 ILLUMINA ss3635898261 Oct 12, 2018 (152)
67 ILLUMINA ss3636897917 Oct 12, 2018 (152)
68 ILLUMINA ss3637651396 Oct 12, 2018 (152)
69 ILLUMINA ss3638747167 Oct 12, 2018 (152)
70 ILLUMINA ss3640868443 Oct 12, 2018 (152)
71 ILLUMINA ss3643679057 Oct 12, 2018 (152)
72 ILLUMINA ss3644964225 Oct 12, 2018 (152)
73 OMUKHERJEE_ADBS ss3646372854 Oct 12, 2018 (152)
74 ILLUMINA ss3653365110 Oct 12, 2018 (152)
75 ILLUMINA ss3654194355 Oct 12, 2018 (152)
76 EGCUT_WGS ss3670456204 Jul 13, 2019 (153)
77 EVA_DECODE ss3721523293 Jul 13, 2019 (153)
78 ILLUMINA ss3726518687 Jul 13, 2019 (153)
79 ACPOP ss3735451682 Jul 13, 2019 (153)
80 ILLUMINA ss3744302541 Jul 13, 2019 (153)
81 ILLUMINA ss3745460946 Jul 13, 2019 (153)
82 EVA ss3767696007 Jul 13, 2019 (153)
83 PAGE_CC ss3771427360 Jul 13, 2019 (153)
84 ILLUMINA ss3772953548 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3810859209 Jul 13, 2019 (153)
86 EVA ss3824350587 Apr 26, 2020 (154)
87 EVA ss3825736871 Apr 26, 2020 (154)
88 SGDP_PRJ ss3869401318 Apr 26, 2020 (154)
89 KRGDB ss3916826279 Apr 26, 2020 (154)
90 KOGIC ss3963372440 Apr 26, 2020 (154)
91 1000Genomes NC_000008.10 - 18080015 Oct 12, 2018 (152)
92 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080015 Oct 12, 2018 (152)
93 Genetic variation in the Estonian population NC_000008.10 - 18080015 Oct 12, 2018 (152)
94 ExAC NC_000008.10 - 18080015 Oct 12, 2018 (152)
95 FINRISK NC_000008.10 - 18080015 Apr 26, 2020 (154)
96 gnomAD - Genomes NC_000008.10 - 18080015 Jul 13, 2019 (153)
97 gnomAD - Exomes NC_000008.10 - 18080015 Jul 13, 2019 (153)
98 GO Exome Sequencing Project NC_000008.10 - 18080015 Oct 12, 2018 (152)
99 Genome of the Netherlands Release 5 NC_000008.10 - 18080015 Apr 26, 2020 (154)
100 HapMap NC_000008.11 - 18222506 Apr 26, 2020 (154)
101 KOREAN population from KRGDB NC_000008.10 - 18080015 Apr 26, 2020 (154)
102 Korean Genome Project NC_000008.11 - 18222506 Apr 26, 2020 (154)
103 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080015 Apr 26, 2020 (154)
104 Northern Sweden NC_000008.10 - 18080015 Jul 13, 2019 (153)
105 The PAGE Study NC_000008.11 - 18222506 Jul 13, 2019 (153)
106 PharmGKB Aggregated NC_000008.11 - 18222506 Apr 26, 2020 (154)
107 Qatari NC_000008.10 - 18080015 Apr 26, 2020 (154)
108 SGDP_PRJ NC_000008.10 - 18080015 Apr 26, 2020 (154)
109 TopMed NC_000008.11 - 18222506 Oct 12, 2018 (152)
110 UK 10K study - Twins NC_000008.10 - 18080015 Oct 12, 2018 (152)
111 A Vietnamese Genetic Variation Database NC_000008.10 - 18080015 Jul 13, 2019 (153)
112 dbGaP Population Frequency Project NC_000008.11 - 18222506 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)
rs17642082 Oct 08, 2004 (123)
rs58366217 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481125921, ss491921828, ss1594843095, ss1713019445, ss2635180424, ss3643679057 NC_000008.9:18124294:G:A NC_000008.11:18222505:G:A (self)
40940097, 22757062, 16194452, 9201010, 53742, 111829283, 6184318, 808447, 10168791, 24003673, 310136, 8736547, 10585783, 21418298, 22757062, 5073560, ss234344890, ss342253583, ss481148073, ss482137011, ss485358036, ss490960707, ss537302784, ss655023160, ss778927511, ss783124727, ss784081380, ss832383550, ss833022403, ss834389012, ss985254177, ss1067495856, ss1075324499, ss1328847114, ss1431435948, ss1584057281, ss1620096456, ss1663090489, ss1689107665, ss1711194376, ss1752722035, ss1928543853, ss1946231049, ss1959092245, ss2024970097, ss2470808517, ss2634717602, ss2634717603, ss2708952063, ss2711131556, ss2737016411, ss2748005860, ss2863915035, ss2985432568, ss2986074622, ss3002777604, ss3022824288, ss3625946888, ss3630009295, ss3632618294, ss3633492866, ss3634219267, ss3635161153, ss3635898261, ss3636897917, ss3637651396, ss3638747167, ss3640868443, ss3644964225, ss3646372854, ss3653365110, ss3654194355, ss3670456204, ss3735451682, ss3744302541, ss3745460946, ss3767696007, ss3772953548, ss3824350587, ss3825736871, ss3869401318, ss3916826279 NC_000008.10:18080014:G:A NC_000008.11:18222505:G:A (self)
3577051, 19750441, 648829, 12428, 384349513, 67725526, ss2301150662, ss3555475120, ss3721523293, ss3726518687, ss3771427360, ss3810859209, ss3963372440 NC_000008.11:18222505:G:A NC_000008.11:18222505:G:A (self)
ss5586788, ss24180119, ss32478881, ss75232327, ss84168371, ss119497110, ss154334569, ss159511092, ss160735779, ss173903473, ss244302411 NT_167187.1:5938160:G:A NC_000008.11:18222505:G:A (self)
Help

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

7 citations for rs4986990
PMID Title Author Year Journal
16416399 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Patin E et al. 2006 American journal of human genetics
18990750 Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. Cotterchio M et al. 2008 Cancer epidemiology, biomarkers & prevention
20937634 Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk. Cleary SP et al. 2010 American journal of epidemiology
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
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
22301281 Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. Jang JH et al. 2012 Carcinogenesis
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
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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