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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.

rs4986783

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222687 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.020259 (5085/250998, GnomAD_exome)
G=0.025136 (3254/129458, ALFA Project)
G=0.018285 (2296/125568, TOPMED) (+ 21 more)
G=0.020938 (2538/121216, ExAC)
G=0.00986 (776/78698, PAGE_STUDY)
G=0.01841 (578/31402, GnomAD)
G=0.01707 (222/13006, GO-ESP)
G=0.0170 (85/5008, 1000G)
G=0.0328 (147/4480, Estonian)
G=0.0171 (66/3854, ALSPAC)
G=0.0165 (61/3708, TWINSUK)
G=0.0041 (12/2922, KOREAN)
G=0.0060 (11/1832, Korea1K)
G=0.0208 (37/1782, HapMap)
G=0.0625 (71/1136, Daghestan)
G=0.023 (23/998, GoNL)
G=0.010 (6/612, Vietnamese)
G=0.012 (7/600, NorthernSweden)
G=0.024 (13/534, MGP)
G=0.003 (1/356, PharmGKB)
G=0.003 (1/304, FINRISK)
G=0.102 (22/216, Qatari)
T=0.50 (12/24, SGDP_PRJ)
G=0.50 (12/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Missense Variant
Publications
6 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.18222687T>G
GRCh37.p13 chr 8 NC_000008.10:g.18080196T>G
NAT1 RefSeqGene NG_012245.2:g.57226T>G
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.826T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Ser276Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Ser214Ala S (Ser) > A (Ala) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.640T>G S [TCA] > A [GCA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Ser214Ala S (Ser) > A (Ala) 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 265700 T=0.974411 G=0.025589
European Sub 225352 T=0.972953 G=0.027047
African Sub 11270 T=0.99406 G=0.00594
African Others Sub 388 T=0.997 G=0.003
African American Sub 10882 T=0.99393 G=0.00607
Asian Sub 3942 T=0.9911 G=0.0089
East Asian Sub 3158 T=0.9949 G=0.0051
Other Asian Sub 784 T=0.976 G=0.024
Latin American 1 Sub 1390 T=0.9777 G=0.0223
Latin American 2 Sub 6650 T=0.9883 G=0.0117
South Asian Sub 366 T=0.975 G=0.025
Other Sub 16730 T=0.97107 G=0.02893


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 250998 T=0.979741 G=0.020259
gnomAD - Exomes European Sub 135110 T=0.977359 G=0.022641
gnomAD - Exomes Asian Sub 48958 T=0.97992 G=0.02008
gnomAD - Exomes American Sub 34502 T=0.98896 G=0.01104
gnomAD - Exomes African Sub 16252 T=0.99625 G=0.00375
gnomAD - Exomes Ashkenazi Jewish Sub 10060 T=0.95785 G=0.04215
gnomAD - Exomes Other Sub 6116 T=0.9711 G=0.0289
ALFA Total Global 129458 T=0.974864 G=0.025136
ALFA European Sub 109986 T=0.973106 G=0.026894
ALFA Other Sub 6666 T=0.9737 G=0.0263
ALFA African Sub 6386 T=0.9928 G=0.0072
ALFA Latin American 2 Sub 5426 T=0.9891 G=0.0109
ALFA Latin American 1 Sub 556 T=0.980 G=0.020
ALFA Asian Sub 368 T=0.989 G=0.011
ALFA South Asian Sub 70 T=0.99 G=0.01
TopMed Global Study-wide 125568 T=0.981715 G=0.018285
ExAC Global Study-wide 121216 T=0.979062 G=0.020938
ExAC Europe Sub 73266 T=0.97525 G=0.02475
ExAC Asian Sub 25126 T=0.97851 G=0.02149
ExAC American Sub 11530 T=0.98968 G=0.01032
ExAC African Sub 10388 T=0.99644 G=0.00356
ExAC Other Sub 906 T=0.968 G=0.032
The PAGE Study Global Study-wide 78698 T=0.99014 G=0.00986
The PAGE Study AfricanAmerican Sub 32514 T=0.99514 G=0.00486
The PAGE Study Mexican Sub 10810 T=0.98307 G=0.01693
The PAGE Study Asian Sub 8318 T=0.9948 G=0.0052
The PAGE Study PuertoRican Sub 7916 T=0.9857 G=0.0143
The PAGE Study NativeHawaiian Sub 4534 T=0.9894 G=0.0106
The PAGE Study Cuban Sub 4230 T=0.9787 G=0.0213
The PAGE Study Dominican Sub 3828 T=0.9906 G=0.0094
The PAGE Study CentralAmerican Sub 2450 T=0.9861 G=0.0139
The PAGE Study SouthAmerican Sub 1982 T=0.9849 G=0.0151
The PAGE Study NativeAmerican Sub 1260 T=0.9857 G=0.0143
The PAGE Study SouthAsian Sub 856 T=0.973 G=0.027
gnomAD - Genomes Global Study-wide 31402 T=0.98159 G=0.01841
gnomAD - Genomes European Sub 18906 T=0.97514 G=0.02486
gnomAD - Genomes African Sub 8712 T=0.9944 G=0.0056
gnomAD - Genomes East Asian Sub 1558 T=0.9917 G=0.0083
gnomAD - Genomes Other Sub 1088 T=0.9789 G=0.0211
gnomAD - Genomes American Sub 848 T=0.987 G=0.013
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.959 G=0.041
GO Exome Sequencing Project Global Study-wide 13006 T=0.98293 G=0.01707
GO Exome Sequencing Project European American Sub 8600 T=0.9760 G=0.0240
GO Exome Sequencing Project African American Sub 4406 T=0.9964 G=0.0036
1000Genomes Global Study-wide 5008 T=0.9830 G=0.0170
1000Genomes African Sub 1322 T=0.9970 G=0.0030
1000Genomes East Asian Sub 1008 T=0.9940 G=0.0060
1000Genomes Europe Sub 1006 T=0.9751 G=0.0249
1000Genomes South Asian Sub 978 T=0.959 G=0.041
1000Genomes American Sub 694 T=0.986 G=0.014
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9672 G=0.0328
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9829 G=0.0171
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9835 G=0.0165
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9959 G=0.0041
Korean Genome Project KOREAN Study-wide 1832 T=0.9940 G=0.0060
HapMap Global Study-wide 1782 T=0.9792 G=0.0208
HapMap African Sub 692 T=0.994 G=0.006
HapMap American Sub 666 T=0.965 G=0.035
HapMap Asian Sub 250 T=0.988 G=0.012
HapMap Europe Sub 174 T=0.960 G=0.040
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.9375 G=0.0625
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.939 G=0.061
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.910 G=0.090
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.967 G=0.033
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.972 G=0.028
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.97 G=0.03
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.72 G=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.977 G=0.023
A Vietnamese Genetic Variation Database Global Study-wide 612 T=0.990 G=0.010
Northern Sweden ACPOP Study-wide 600 T=0.988 G=0.012
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.976 G=0.024
PharmGKB Aggregated Global Study-wide 356 T=0.997 G=0.003
PharmGKB Aggregated PA147978234 Sub 356 T=0.997 G=0.003
FINRISK Finnish from FINRISK project Study-wide 304 T=0.997 G=0.003
Qatari Global Study-wide 216 T=0.898 G=0.102
SGDP_PRJ Global Study-wide 24 T=0.50 G=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 T= G
GRCh38.p12 chr 8 NC_000008.11:g.18222687= NC_000008.11:g.18222687T>G
GRCh37.p13 chr 8 NC_000008.10:g.18080196= NC_000008.10:g.18080196T>G
NAT1 RefSeqGene NG_012245.2:g.57226= NG_012245.2:g.57226T>G
NAT1 transcript variant 5 NM_000662.8:c.640= NM_000662.8:c.640T>G
NAT1 transcript variant 5 NM_000662.7:c.640= NM_000662.7:c.640T>G
NAT1 transcript variant 5 NM_000662.5:c.640= NM_000662.5:c.640T>G
NAT1 transcript variant 1 NM_001160170.4:c.640= NM_001160170.4:c.640T>G
NAT1 transcript variant 1 NM_001160170.3:c.640= NM_001160170.3:c.640T>G
NAT1 transcript variant 1 NM_001160170.1:c.640= NM_001160170.1:c.640T>G
NAT1 transcript variant 2 NM_001160171.4:c.640= NM_001160171.4:c.640T>G
NAT1 transcript variant 2 NM_001160171.3:c.640= NM_001160171.3:c.640T>G
NAT1 transcript variant 2 NM_001160171.1:c.640= NM_001160171.1:c.640T>G
NAT1 transcript variant 3 NM_001160172.4:c.640= NM_001160172.4:c.640T>G
NAT1 transcript variant 3 NM_001160172.3:c.640= NM_001160172.3:c.640T>G
NAT1 transcript variant 3 NM_001160172.1:c.640= NM_001160172.1:c.640T>G
NAT1 transcript variant 7 NM_001160175.4:c.826= NM_001160175.4:c.826T>G
NAT1 transcript variant 7 NM_001160175.3:c.826= NM_001160175.3:c.826T>G
NAT1 transcript variant 7 NM_001160175.1:c.826= NM_001160175.1:c.826T>G
NAT1 transcript variant 8 NM_001160176.4:c.826= NM_001160176.4:c.826T>G
NAT1 transcript variant 8 NM_001160176.3:c.826= NM_001160176.3:c.826T>G
NAT1 transcript variant 8 NM_001160176.1:c.826= NM_001160176.1:c.826T>G
NAT1 transcript variant 9 NM_001160179.3:c.640= NM_001160179.3:c.640T>G
NAT1 transcript variant 9 NM_001160179.2:c.640= NM_001160179.2:c.640T>G
NAT1 transcript variant 9 NM_001160179.1:c.640= NM_001160179.1:c.640T>G
NAT1 transcript variant 4 NM_001160173.3:c.640= NM_001160173.3:c.640T>G
NAT1 transcript variant 4 NM_001160173.1:c.640= NM_001160173.1:c.640T>G
NAT1 transcript variant 10 NM_001291962.2:c.826= NM_001291962.2:c.826T>G
NAT1 transcript variant 10 NM_001291962.1:c.826= NM_001291962.1:c.826T>G
NAT1 transcript variant 6 NM_001160174.2:c.640= NM_001160174.2:c.640T>G
NAT1 transcript variant 6 NM_001160174.1:c.640= NM_001160174.1:c.640T>G
NAT1 transcript variant X4 XM_006716410.3:c.640= XM_006716410.3:c.640T>G
NAT1 transcript variant X5 XM_011544689.2:c.640= XM_011544689.2:c.640T>G
NAT1 transcript variant X3 XM_017013947.1:c.826= XM_017013947.1:c.826T>G
NAT1 transcript variant X2 XM_011544687.1:c.826= XM_011544687.1:c.826T>G
NAT1 transcript variant X1 XM_011544688.1:c.826= XM_011544688.1:c.826T>G
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Ser214= NP_000653.3:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Ser214= NP_001153642.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Ser214= NP_001153643.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Ser214= NP_001153644.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Ser276= NP_001153647.1:p.Ser276Ala
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Ser276= NP_001153648.1:p.Ser276Ala
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Ser214= NP_001153651.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Ser214= NP_001153645.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Ser276= NP_001278891.1:p.Ser276Ala
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Ser214= NP_001153646.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Ser214= XP_006716473.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Ser214= XP_011542991.1:p.Ser214Ala
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Ser276= XP_016869436.1:p.Ser276Ala
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Ser276= XP_011542989.1:p.Ser276Ala
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Ser276= XP_011542990.1:p.Ser276Ala
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#.

105 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss6903885 Mar 31, 2003 (113)
2 HGBASE ss7986006 Mar 31, 2003 (113)
3 PERLEGEN ss24180120 Sep 20, 2004 (123)
4 EGP_SNPS ss32478882 May 24, 2005 (125)
5 CSHL-HAPMAP ss68378011 Jan 12, 2007 (127)
6 PERLEGEN ss69042332 May 18, 2007 (127)
7 AFFY ss74813878 Aug 16, 2007 (128)
8 ILLUMINA ss74863566 Dec 06, 2007 (129)
9 PHARMGKB_AB_DME ss84168366 Dec 15, 2007 (130)
10 ILLUMINA ss160735741 Dec 01, 2009 (131)
11 ILLUMINA ss173903377 Jul 04, 2010 (132)
12 ILLUMINA ss244302393 Jul 04, 2010 (132)
13 1000GENOMES ss334724011 May 09, 2011 (134)
14 NHLBI-ESP ss342253589 May 09, 2011 (134)
15 ILLUMINA ss481125795 May 04, 2012 (137)
16 ILLUMINA ss481147957 May 04, 2012 (137)
17 ILLUMINA ss482136896 Sep 08, 2015 (146)
18 ILLUMINA ss485357978 May 04, 2012 (137)
19 1000GENOMES ss490960712 May 04, 2012 (137)
20 EXOME_CHIP ss491410745 May 04, 2012 (137)
21 CLINSEQ_SNP ss491921831 May 04, 2012 (137)
22 ILLUMINA ss537302752 Sep 08, 2015 (146)
23 SSMP ss655023161 Apr 25, 2013 (138)
24 ILLUMINA ss778555666 Aug 21, 2014 (142)
25 ILLUMINA ss780867814 Sep 08, 2015 (146)
26 ILLUMINA ss783124698 Aug 21, 2014 (142)
27 ILLUMINA ss783552745 Sep 08, 2015 (146)
28 ILLUMINA ss784081356 Aug 21, 2014 (142)
29 ILLUMINA ss832383521 Apr 01, 2015 (144)
30 ILLUMINA ss834012459 Aug 21, 2014 (142)
31 EVA-GONL ss985254181 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067495858 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1075324501 Aug 21, 2014 (142)
34 1000GENOMES ss1328847121 Aug 21, 2014 (142)
35 HAMMER_LAB ss1397519348 Sep 08, 2015 (146)
36 DDI ss1431435949 Apr 01, 2015 (144)
37 EVA_FINRISK ss1584057284 Apr 01, 2015 (144)
38 EVA_DECODE ss1594843099 Apr 01, 2015 (144)
39 EVA_UK10K_ALSPAC ss1620096462 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1663090495 Apr 01, 2015 (144)
41 EVA_EXAC ss1689107702 Apr 01, 2015 (144)
42 EVA_MGP ss1711194379 Apr 01, 2015 (144)
43 EVA_SVP ss1713019446 Apr 01, 2015 (144)
44 ILLUMINA ss1752722039 Sep 08, 2015 (146)
45 ILLUMINA ss1752722040 Sep 08, 2015 (146)
46 ILLUMINA ss1917826195 Feb 12, 2016 (147)
47 WEILL_CORNELL_DGM ss1928543854 Feb 12, 2016 (147)
48 ILLUMINA ss1946231055 Feb 12, 2016 (147)
49 ILLUMINA ss1946231056 Feb 12, 2016 (147)
50 ILLUMINA ss1959092253 Feb 12, 2016 (147)
51 ILLUMINA ss1959092255 Feb 12, 2016 (147)
52 JJLAB ss2024970098 Sep 14, 2016 (149)
53 HUMAN_LONGEVITY ss2301150679 Dec 20, 2016 (150)
54 TOPMED ss2470808529 Dec 20, 2016 (150)
55 ILLUMINA ss2634717609 Nov 08, 2017 (151)
56 GRF ss2708952064 Nov 08, 2017 (151)
57 ILLUMINA ss2711131560 Nov 08, 2017 (151)
58 GNOMAD ss2737016466 Nov 08, 2017 (151)
59 GNOMAD ss2748005872 Nov 08, 2017 (151)
60 GNOMAD ss2863915047 Nov 08, 2017 (151)
61 AFFY ss2985432574 Nov 08, 2017 (151)
62 AFFY ss2986074626 Nov 08, 2017 (151)
63 SWEGEN ss3002777608 Nov 08, 2017 (151)
64 ILLUMINA ss3022824294 Nov 08, 2017 (151)
65 ILLUMINA ss3022824295 Nov 08, 2017 (151)
66 TOPMED ss3555475157 Nov 08, 2017 (151)
67 ILLUMINA ss3625946892 Oct 12, 2018 (152)
68 ILLUMINA ss3630009302 Oct 12, 2018 (152)
69 ILLUMINA ss3630009303 Oct 12, 2018 (152)
70 ILLUMINA ss3632618296 Oct 12, 2018 (152)
71 ILLUMINA ss3633492868 Oct 12, 2018 (152)
72 ILLUMINA ss3634219269 Oct 12, 2018 (152)
73 ILLUMINA ss3635161158 Oct 12, 2018 (152)
74 ILLUMINA ss3635161159 Oct 12, 2018 (152)
75 ILLUMINA ss3635898262 Oct 12, 2018 (152)
76 ILLUMINA ss3636897921 Oct 12, 2018 (152)
77 ILLUMINA ss3637651398 Oct 12, 2018 (152)
78 ILLUMINA ss3638747171 Oct 12, 2018 (152)
79 ILLUMINA ss3640868448 Oct 12, 2018 (152)
80 ILLUMINA ss3640868449 Oct 12, 2018 (152)
81 ILLUMINA ss3643679061 Oct 12, 2018 (152)
82 ILLUMINA ss3644964231 Oct 12, 2018 (152)
83 ILLUMINA ss3644964232 Oct 12, 2018 (152)
84 OMUKHERJEE_ADBS ss3646372855 Oct 12, 2018 (152)
85 ILLUMINA ss3653365116 Oct 12, 2018 (152)
86 ILLUMINA ss3653365117 Oct 12, 2018 (152)
87 ILLUMINA ss3654194362 Oct 12, 2018 (152)
88 EGCUT_WGS ss3670456208 Jul 13, 2019 (153)
89 EVA_DECODE ss3721523300 Jul 13, 2019 (153)
90 ILLUMINA ss3726518693 Jul 13, 2019 (153)
91 ACPOP ss3735451685 Jul 13, 2019 (153)
92 ILLUMINA ss3744302545 Jul 13, 2019 (153)
93 ILLUMINA ss3744577623 Jul 13, 2019 (153)
94 ILLUMINA ss3745460951 Jul 13, 2019 (153)
95 ILLUMINA ss3745460952 Jul 13, 2019 (153)
96 EVA ss3767696009 Jul 13, 2019 (153)
97 PAGE_CC ss3771427366 Jul 13, 2019 (153)
98 ILLUMINA ss3772953552 Jul 13, 2019 (153)
99 ILLUMINA ss3772953553 Jul 13, 2019 (153)
100 KHV_HUMAN_GENOMES ss3810859212 Jul 13, 2019 (153)
101 EVA ss3824350597 Apr 26, 2020 (154)
102 EVA ss3825736874 Apr 26, 2020 (154)
103 SGDP_PRJ ss3869401322 Apr 26, 2020 (154)
104 KRGDB ss3916826284 Apr 26, 2020 (154)
105 KOGIC ss3963372442 Apr 26, 2020 (154)
106 1000Genomes NC_000008.10 - 18080196 Oct 12, 2018 (152)
107 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080196 Oct 12, 2018 (152)
108 Genome-wide autozygosity in Daghestan NC_000008.9 - 18124476 Apr 26, 2020 (154)
109 Genetic variation in the Estonian population NC_000008.10 - 18080196 Oct 12, 2018 (152)
110 ExAC NC_000008.10 - 18080196 Oct 12, 2018 (152)
111 FINRISK NC_000008.10 - 18080196 Apr 26, 2020 (154)
112 gnomAD - Genomes NC_000008.10 - 18080196 Jul 13, 2019 (153)
113 gnomAD - Exomes NC_000008.10 - 18080196 Jul 13, 2019 (153)
114 GO Exome Sequencing Project NC_000008.10 - 18080196 Oct 12, 2018 (152)
115 Genome of the Netherlands Release 5 NC_000008.10 - 18080196 Apr 26, 2020 (154)
116 HapMap NC_000008.11 - 18222687 Apr 26, 2020 (154)
117 KOREAN population from KRGDB NC_000008.10 - 18080196 Apr 26, 2020 (154)
118 Korean Genome Project NC_000008.11 - 18222687 Apr 26, 2020 (154)
119 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080196 Apr 26, 2020 (154)
120 Northern Sweden NC_000008.10 - 18080196 Jul 13, 2019 (153)
121 The PAGE Study NC_000008.11 - 18222687 Jul 13, 2019 (153)
122 PharmGKB Aggregated NC_000008.11 - 18222687 Apr 26, 2020 (154)
123 Qatari NC_000008.10 - 18080196 Apr 26, 2020 (154)
124 SGDP_PRJ NC_000008.10 - 18080196 Apr 26, 2020 (154)
125 TopMed NC_000008.11 - 18222687 Oct 12, 2018 (152)
126 UK 10K study - Twins NC_000008.10 - 18080196 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000008.10 - 18080196 Jul 13, 2019 (153)
128 dbGaP Population Frequency Project NC_000008.11 - 18222687 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)
rs17693139 Oct 08, 2004 (123)
rs52821060 Sep 21, 2007 (128)
rs59405415 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
493253, ss160735741, ss244302393, ss481125795, ss491921831, ss1397519348, ss1594843099, ss1713019446, ss3643679061 NC_000008.9:18124475:T:G NC_000008.11:18222686:T:G (self)
40940104, 22757068, 16194456, 9201048, 53745, 111829294, 6184379, 808457, 10168795, 24003678, 310139, 8736550, 10585784, 21418302, 22757068, 5073562, ss334724011, ss342253589, ss481147957, ss482136896, ss485357978, ss490960712, ss491410745, ss537302752, ss655023161, ss778555666, ss780867814, ss783124698, ss783552745, ss784081356, ss832383521, ss834012459, ss985254181, ss1067495858, ss1075324501, ss1328847121, ss1431435949, ss1584057284, ss1620096462, ss1663090495, ss1689107702, ss1711194379, ss1752722039, ss1752722040, ss1917826195, ss1928543854, ss1946231055, ss1946231056, ss1959092253, ss1959092255, ss2024970098, ss2470808529, ss2634717609, ss2708952064, ss2711131560, ss2737016466, ss2748005872, ss2863915047, ss2985432574, ss2986074626, ss3002777608, ss3022824294, ss3022824295, ss3625946892, ss3630009302, ss3630009303, ss3632618296, ss3633492868, ss3634219269, ss3635161158, ss3635161159, ss3635898262, ss3636897921, ss3637651398, ss3638747171, ss3640868448, ss3640868449, ss3644964231, ss3644964232, ss3646372855, ss3653365116, ss3653365117, ss3654194362, ss3670456208, ss3735451685, ss3744302545, ss3744577623, ss3745460951, ss3745460952, ss3767696009, ss3772953552, ss3772953553, ss3824350597, ss3825736874, ss3869401322, ss3916826284 NC_000008.10:18080195:T:G NC_000008.11:18222686:T:G (self)
3577053, 19750443, 648835, 12429, 384349548, 198320457, ss2301150679, ss3555475157, ss3721523300, ss3726518693, ss3771427366, ss3810859212, ss3963372442 NC_000008.11:18222686:T:G NC_000008.11:18222686:T:G (self)
ss6903885, ss7986006, ss24180120, ss32478882, ss68378011, ss69042332, ss74813878, ss74863566, ss84168366, ss173903377 NT_167187.1:5938341:T:G NC_000008.11:18222686:T:G (self)
Help

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

6 citations for rs4986783
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
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
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
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