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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.

rs4986989

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222008 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.020373 (4363/214154, GnomAD_exome)
T=0.018285 (2296/125568, TOPMED)
T=0.021127 (2370/112180, ExAC) (+ 19 more)
T=0.00980 (771/78688, PAGE_STUDY)
T=0.01834 (576/31400, GnomAD)
T=0.02994 (435/14530, ALFA Project)
T=0.01707 (222/13006, GO-ESP)
T=0.0168 (84/5008, 1000G)
T=0.0328 (147/4480, Estonian)
T=0.0171 (66/3854, ALSPAC)
T=0.0165 (61/3708, TWINSUK)
T=0.0041 (12/2922, KOREAN)
T=0.0060 (11/1832, Korea1K)
T=0.023 (23/998, GoNL)
T=0.008 (5/615, Vietnamese)
T=0.012 (7/600, NorthernSweden)
T=0.024 (13/534, MGP)
T=0.003 (1/348, PharmGKB)
T=0.003 (1/304, FINRISK)
T=0.102 (22/216, Qatari)
A=0.50 (12/24, SGDP_PRJ)
T=0.50 (12/24, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Intron 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.18222008A>T
GRCh37.p13 chr 8 NC_000008.10:g.18079517A>T
NAT1 RefSeqGene NG_012245.2:g.56547A>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 5 NM_000662.8:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 1 NM_001160170.4:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 2 NM_001160171.4:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 3 NM_001160172.4:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 4 NM_001160173.3:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 7 NM_001160175.4:c.181-34A>T N/A Intron Variant
NAT1 transcript variant 8 NM_001160176.4:c.181-34A>T N/A Intron Variant
NAT1 transcript variant 9 NM_001160179.3:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant 10 NM_001291962.2:c.181-34A>T N/A Intron Variant
NAT1 transcript variant 6 NM_001160174.2:c.-40= N/A 5 Prime UTR Variant
NAT1 transcript variant X4 XM_006716410.3:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant X2 XM_011544687.1:c.181-34A>T N/A Intron Variant
NAT1 transcript variant X1 XM_011544688.1:c.181-34A>T N/A Intron Variant
NAT1 transcript variant X5 XM_011544689.2:c.-6-34A>T N/A Intron Variant
NAT1 transcript variant X3 XM_017013947.1:c.181-34A>T N/A Intron 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 96682 A=0.97315 T=0.02685
European Sub 83348 A=0.97133 T=0.02867
African Sub 4346 A=0.9915 T=0.0085
African Others Sub 174 A=0.994 T=0.006
African American Sub 4172 A=0.9914 T=0.0086
Asian Sub 3328 A=0.9907 T=0.0093
East Asian Sub 2672 A=0.9959 T=0.0041
Other Asian Sub 656 A=0.970 T=0.030
Latin American 1 Sub 434 A=0.965 T=0.035
Latin American 2 Sub 928 A=0.987 T=0.013
South Asian Sub 274 A=0.967 T=0.033
Other Sub 4024 A=0.9747 T=0.0253


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 214154 A=0.979627 T=0.020373
gnomAD - Exomes European Sub 120292 A=0.977023 T=0.022977
gnomAD - Exomes Asian Sub 38996 A=0.98023 T=0.01977
gnomAD - Exomes American Sub 27602 A=0.98844 T=0.01156
gnomAD - Exomes African Sub 15492 A=0.99619 T=0.00381
gnomAD - Exomes Ashkenazi Jewish Sub 6698 A=0.9551 T=0.0449
gnomAD - Exomes Other Sub 5074 A=0.9706 T=0.0294
TopMed Global Study-wide 125568 A=0.981715 T=0.018285
ExAC Global Study-wide 112180 A=0.978873 T=0.021127
ExAC Europe Sub 71054 A=0.97527 T=0.02473
ExAC Asian Sub 19024 A=0.97745 T=0.02255
ExAC American Sub 11446 A=0.98969 T=0.01031
ExAC African Sub 9834 A=0.9962 T=0.0038
ExAC Other Sub 822 A=0.965 T=0.035
The PAGE Study Global Study-wide 78688 A=0.99020 T=0.00980
The PAGE Study AfricanAmerican Sub 32508 A=0.99523 T=0.00477
The PAGE Study Mexican Sub 10808 A=0.98307 T=0.01693
The PAGE Study Asian Sub 8316 A=0.9949 T=0.0051
The PAGE Study PuertoRican Sub 7916 A=0.9859 T=0.0141
The PAGE Study NativeHawaiian Sub 4534 A=0.9894 T=0.0106
The PAGE Study Cuban Sub 4230 A=0.9787 T=0.0213
The PAGE Study Dominican Sub 3828 A=0.9906 T=0.0094
The PAGE Study CentralAmerican Sub 2450 A=0.9861 T=0.0139
The PAGE Study SouthAmerican Sub 1982 A=0.9849 T=0.0151
The PAGE Study NativeAmerican Sub 1260 A=0.9857 T=0.0143
The PAGE Study SouthAsian Sub 856 A=0.973 T=0.027
gnomAD - Genomes Global Study-wide 31400 A=0.98166 T=0.01834
gnomAD - Genomes European Sub 18898 A=0.97529 T=0.02471
gnomAD - Genomes African Sub 8718 A=0.9943 T=0.0057
gnomAD - Genomes East Asian Sub 1560 A=0.9917 T=0.0083
gnomAD - Genomes Other Sub 1086 A=0.9788 T=0.0212
gnomAD - Genomes American Sub 848 A=0.987 T=0.013
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.959 T=0.041
ALFA Total Global 14530 A=0.97006 T=0.02994
ALFA European Sub 11428 A=0.97025 T=0.02975
ALFA Other Sub 2364 A=0.9695 T=0.0305
ALFA African Sub 674 A=0.970 T=0.030
ALFA Asian Sub 60 A=0.95 T=0.05
ALFA South Asian Sub 4 A=1.0 T=0.0
ALFA Latin American 1 Sub 0 A=0 T=0
ALFA Latin American 2 Sub 0 A=0 T=0
GO Exome Sequencing Project Global Study-wide 13006 A=0.98293 T=0.01707
GO Exome Sequencing Project European American Sub 8600 A=0.9760 T=0.0240
GO Exome Sequencing Project African American Sub 4406 A=0.9964 T=0.0036
1000Genomes Global Study-wide 5008 A=0.9832 T=0.0168
1000Genomes African Sub 1322 A=0.9970 T=0.0030
1000Genomes East Asian Sub 1008 A=0.9940 T=0.0060
1000Genomes Europe Sub 1006 A=0.9751 T=0.0249
1000Genomes South Asian Sub 978 A=0.959 T=0.041
1000Genomes American Sub 694 A=0.987 T=0.013
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9672 T=0.0328
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9829 T=0.0171
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9835 T=0.0165
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9959 T=0.0041
Korean Genome Project KOREAN Study-wide 1832 A=0.9940 T=0.0060
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.977 T=0.023
A Vietnamese Genetic Variation Database Global Study-wide 615 A=0.992 T=0.008
Northern Sweden ACPOP Study-wide 600 A=0.988 T=0.012
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.976 T=0.024
PharmGKB Aggregated Global Study-wide 348 A=0.997 T=0.003
PharmGKB Aggregated PA147973959 Sub 348 A=0.997 T=0.003
FINRISK Finnish from FINRISK project Study-wide 304 A=0.997 T=0.003
Qatari Global Study-wide 216 A=0.898 T=0.102
SGDP_PRJ Global Study-wide 24 A=0.50 T=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 A= T
GRCh38.p12 chr 8 NC_000008.11:g.18222008= NC_000008.11:g.18222008A>T
GRCh37.p13 chr 8 NC_000008.10:g.18079517= NC_000008.10:g.18079517A>T
NAT1 RefSeqGene NG_012245.2:g.56547= NG_012245.2:g.56547A>T
NAT1 transcript variant 6 NM_001160174.2:c.-40= NM_001160174.2:c.-40A>T
NAT1 transcript variant 6 NM_001160174.1:c.-40= NM_001160174.1:c.-40A>T
NAT1 transcript variant 5 NM_000662.5:c.-6-34= NM_000662.5:c.-6-34A>T
NAT1 transcript variant 5 NM_000662.8:c.-6-34= NM_000662.8:c.-6-34A>T
NAT1 transcript variant 1 NM_001160170.1:c.-6-34= NM_001160170.1:c.-6-34A>T
NAT1 transcript variant 1 NM_001160170.4:c.-6-34= NM_001160170.4:c.-6-34A>T
NAT1 transcript variant 2 NM_001160171.1:c.-6-34= NM_001160171.1:c.-6-34A>T
NAT1 transcript variant 2 NM_001160171.4:c.-6-34= NM_001160171.4:c.-6-34A>T
NAT1 transcript variant 3 NM_001160172.1:c.-6-34= NM_001160172.1:c.-6-34A>T
NAT1 transcript variant 3 NM_001160172.4:c.-6-34= NM_001160172.4:c.-6-34A>T
NAT1 transcript variant 4 NM_001160173.1:c.-6-34= NM_001160173.1:c.-6-34A>T
NAT1 transcript variant 4 NM_001160173.3:c.-6-34= NM_001160173.3:c.-6-34A>T
NAT1 transcript variant 7 NM_001160175.1:c.181-34= NM_001160175.1:c.181-34A>T
NAT1 transcript variant 7 NM_001160175.4:c.181-34= NM_001160175.4:c.181-34A>T
NAT1 transcript variant 8 NM_001160176.1:c.181-34= NM_001160176.1:c.181-34A>T
NAT1 transcript variant 8 NM_001160176.4:c.181-34= NM_001160176.4:c.181-34A>T
NAT1 transcript variant 9 NM_001160179.1:c.-6-34= NM_001160179.1:c.-6-34A>T
NAT1 transcript variant 9 NM_001160179.3:c.-6-34= NM_001160179.3:c.-6-34A>T
NAT1 transcript variant 10 NM_001291962.2:c.181-34= NM_001291962.2:c.181-34A>T
NAT1 transcript variant X1 XM_005273677.1:c.181-34= XM_005273677.1:c.181-34A>T
NAT1 transcript variant X2 XM_005273678.1:c.-6-34= XM_005273678.1:c.-6-34A>T
NAT1 transcript variant X3 XM_005273679.1:c.-6-34= XM_005273679.1:c.-6-34A>T
NAT1 transcript variant X4 XM_006716410.3:c.-6-34= XM_006716410.3:c.-6-34A>T
NAT1 transcript variant X2 XM_011544687.1:c.181-34= XM_011544687.1:c.181-34A>T
NAT1 transcript variant X1 XM_011544688.1:c.181-34= XM_011544688.1:c.181-34A>T
NAT1 transcript variant X5 XM_011544689.2:c.-6-34= XM_011544689.2:c.-6-34A>T
NAT1 transcript variant X3 XM_017013947.1:c.181-34= XM_017013947.1:c.181-34A>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#.

89 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586787 Mar 31, 2003 (113)
2 PERLEGEN ss24180113 Sep 20, 2004 (123)
3 EGP_SNPS ss32478877 May 24, 2005 (125)
4 ILLUMINA ss75241723 Dec 07, 2007 (129)
5 PHARMGKB_AB_DME ss84168348 Dec 14, 2007 (130)
6 KRIBB_YJKIM ss119497109 Dec 01, 2009 (131)
7 ILLUMINA ss154334568 Dec 01, 2009 (131)
8 ILLUMINA ss159102047 Dec 01, 2009 (131)
9 ILLUMINA ss159511091 Dec 01, 2009 (131)
10 ILLUMINA ss160735778 Dec 01, 2009 (131)
11 ILLUMINA ss173903471 Jul 04, 2010 (132)
12 1000GENOMES ss234344888 Jul 15, 2010 (132)
13 ILLUMINA ss481125917 May 04, 2012 (137)
14 ILLUMINA ss481148069 May 04, 2012 (137)
15 ILLUMINA ss482137008 Sep 08, 2015 (146)
16 ILLUMINA ss485358034 May 04, 2012 (137)
17 1000GENOMES ss490960701 May 04, 2012 (137)
18 CLINSEQ_SNP ss491921823 May 04, 2012 (137)
19 ILLUMINA ss537302783 Sep 08, 2015 (146)
20 SSMP ss655023155 Apr 25, 2013 (138)
21 NHLBI-ESP ss712827944 Apr 25, 2013 (138)
22 ILLUMINA ss778342571 Aug 21, 2014 (142)
23 ILLUMINA ss783124726 Aug 21, 2014 (142)
24 ILLUMINA ss784081379 Aug 21, 2014 (142)
25 ILLUMINA ss832383549 Apr 01, 2015 (144)
26 ILLUMINA ss833022402 Aug 21, 2014 (142)
27 ILLUMINA ss833613230 Aug 21, 2014 (142)
28 ILLUMINA ss833797188 Aug 21, 2014 (142)
29 EVA-GONL ss985254174 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1067495853 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1075324496 Aug 21, 2014 (142)
32 1000GENOMES ss1328847099 Aug 21, 2014 (142)
33 DDI ss1431435946 Apr 01, 2015 (144)
34 EVA_FINRISK ss1584057279 Apr 01, 2015 (144)
35 EVA_DECODE ss1594843090 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1620096449 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1663090482 Apr 01, 2015 (144)
38 EVA_EXAC ss1689107557 Apr 01, 2015 (144)
39 EVA_MGP ss1711194372 Apr 01, 2015 (144)
40 EVA_SVP ss1713019443 Apr 01, 2015 (144)
41 ILLUMINA ss1752722030 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1928543849 Feb 12, 2016 (147)
43 ILLUMINA ss1946231041 Feb 12, 2016 (147)
44 ILLUMINA ss1959092228 Feb 12, 2016 (147)
45 JJLAB ss2024970094 Sep 14, 2016 (149)
46 HUMAN_LONGEVITY ss2301150638 Dec 20, 2016 (150)
47 TOPMED ss2470808480 Dec 20, 2016 (150)
48 ILLUMINA ss2634717588 Nov 08, 2017 (151)
49 GRF ss2708952061 Nov 08, 2017 (151)
50 ILLUMINA ss2711131547 Nov 08, 2017 (151)
51 GNOMAD ss2737016280 Nov 08, 2017 (151)
52 GNOMAD ss2748005818 Nov 08, 2017 (151)
53 GNOMAD ss2863914993 Nov 08, 2017 (151)
54 AFFY ss2985432564 Nov 08, 2017 (151)
55 AFFY ss2986074618 Nov 08, 2017 (151)
56 SWEGEN ss3002777599 Nov 08, 2017 (151)
57 ILLUMINA ss3022824277 Nov 08, 2017 (151)
58 TOPMED ss3555475016 Nov 08, 2017 (151)
59 ILLUMINA ss3625946880 Oct 12, 2018 (152)
60 ILLUMINA ss3630009286 Oct 12, 2018 (152)
61 ILLUMINA ss3632618289 Oct 12, 2018 (152)
62 ILLUMINA ss3633492862 Oct 12, 2018 (152)
63 ILLUMINA ss3634219263 Oct 12, 2018 (152)
64 ILLUMINA ss3635161147 Oct 12, 2018 (152)
65 ILLUMINA ss3635898258 Oct 12, 2018 (152)
66 ILLUMINA ss3636897909 Oct 12, 2018 (152)
67 ILLUMINA ss3637651392 Oct 12, 2018 (152)
68 ILLUMINA ss3638747160 Oct 12, 2018 (152)
69 ILLUMINA ss3640868437 Oct 12, 2018 (152)
70 ILLUMINA ss3643679051 Oct 12, 2018 (152)
71 ILLUMINA ss3644964217 Oct 12, 2018 (152)
72 BIOINF_KMB_FNS_UNIBA ss3646081926 Oct 12, 2018 (152)
73 ILLUMINA ss3653365099 Oct 12, 2018 (152)
74 ILLUMINA ss3654194351 Oct 12, 2018 (152)
75 EGCUT_WGS ss3670456197 Jul 13, 2019 (153)
76 EVA_DECODE ss3721523287 Jul 13, 2019 (153)
77 ILLUMINA ss3726518676 Jul 13, 2019 (153)
78 ACPOP ss3735451679 Jul 13, 2019 (153)
79 ILLUMINA ss3744302534 Jul 13, 2019 (153)
80 ILLUMINA ss3745460940 Jul 13, 2019 (153)
81 EVA ss3767696000 Jul 13, 2019 (153)
82 PAGE_CC ss3771427352 Jul 13, 2019 (153)
83 ILLUMINA ss3772953543 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3810859199 Jul 13, 2019 (153)
85 EVA ss3824350569 Apr 26, 2020 (154)
86 EVA ss3825736867 Apr 26, 2020 (154)
87 SGDP_PRJ ss3869401310 Apr 26, 2020 (154)
88 KRGDB ss3916826268 Apr 26, 2020 (154)
89 KOGIC ss3963372427 Apr 26, 2020 (154)
90 1000Genomes NC_000008.10 - 18079517 Oct 12, 2018 (152)
91 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18079517 Oct 12, 2018 (152)
92 Genetic variation in the Estonian population NC_000008.10 - 18079517 Oct 12, 2018 (152)
93 ExAC NC_000008.10 - 18079517 Oct 12, 2018 (152)
94 FINRISK NC_000008.10 - 18079517 Apr 26, 2020 (154)
95 gnomAD - Genomes NC_000008.10 - 18079517 Jul 13, 2019 (153)
96 gnomAD - Exomes NC_000008.10 - 18079517 Jul 13, 2019 (153)
97 GO Exome Sequencing Project NC_000008.10 - 18079517 Oct 12, 2018 (152)
98 Genome of the Netherlands Release 5 NC_000008.10 - 18079517 Apr 26, 2020 (154)
99 KOREAN population from KRGDB NC_000008.10 - 18079517 Apr 26, 2020 (154)
100 Korean Genome Project NC_000008.11 - 18222008 Apr 26, 2020 (154)
101 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18079517 Apr 26, 2020 (154)
102 Northern Sweden NC_000008.10 - 18079517 Jul 13, 2019 (153)
103 The PAGE Study NC_000008.11 - 18222008 Jul 13, 2019 (153)
104 PharmGKB Aggregated NC_000008.11 - 18222008 Apr 26, 2020 (154)
105 Qatari NC_000008.10 - 18079517 Apr 26, 2020 (154)
106 SGDP_PRJ NC_000008.10 - 18079517 Apr 26, 2020 (154)
107 TopMed NC_000008.11 - 18222008 Oct 12, 2018 (152)
108 UK 10K study - Twins NC_000008.10 - 18079517 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000008.10 - 18079517 Jul 13, 2019 (153)
110 dbGaP Population Frequency Project NC_000008.11 - 18222008 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)
rs17693121 Oct 08, 2004 (123)
rs56996453 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481125917, ss491921823, ss1594843090, ss1713019443, ss3643679051 NC_000008.9:18123796:A:T NC_000008.11:18222007:A:T (self)
40940082, 22757055, 16194445, 9200899, 53740, 111829239, 6184163, 808430, 10168788, 24003662, 310132, 8736544, 10585779, 21418290, 22757055, 5073552, ss234344888, ss481148069, ss482137008, ss485358034, ss490960701, ss537302783, ss655023155, ss712827944, ss778342571, ss783124726, ss784081379, ss832383549, ss833022402, ss833613230, ss833797188, ss985254174, ss1067495853, ss1075324496, ss1328847099, ss1431435946, ss1584057279, ss1620096449, ss1663090482, ss1689107557, ss1711194372, ss1752722030, ss1928543849, ss1946231041, ss1959092228, ss2024970094, ss2470808480, ss2634717588, ss2708952061, ss2711131547, ss2737016280, ss2748005818, ss2863914993, ss2985432564, ss2986074618, ss3002777599, ss3022824277, ss3625946880, ss3630009286, ss3632618289, ss3633492862, ss3634219263, ss3635161147, ss3635898258, ss3636897909, ss3637651392, ss3638747160, ss3640868437, ss3644964217, ss3653365099, ss3654194351, ss3670456197, ss3735451679, ss3744302534, ss3745460940, ss3767696000, ss3772953543, ss3824350569, ss3825736867, ss3869401310, ss3916826268 NC_000008.10:18079516:A:T NC_000008.11:18222007:A:T (self)
19750428, 648821, 12424, 384349423, 737487117, ss2301150638, ss3555475016, ss3646081926, ss3721523287, ss3726518676, ss3771427352, ss3810859199, ss3963372427 NC_000008.11:18222007:A:T NC_000008.11:18222007:A:T (self)
ss5586787, ss24180113, ss32478877, ss75241723, ss84168348, ss119497109, ss154334568, ss159102047, ss159511091, ss160735778, ss173903471 NT_167187.1:5937662:A:T NC_000008.11:18222007:A:T (self)
Help

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

6 citations for rs4986989
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
20436251 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 World review of nutrition and dietetics
21474949 Xenobiotic metabolizing genes, meat-related exposures, and risk of advanced colorectal adenoma. Ferrucci LM et al. 2010 Journal of nutrigenetics and nutrigenomics
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
22645715 Xenobiotic metabolizing gene variants and renal cell cancer: a multicenter study. Heck JE et al. 2012 Frontiers in oncology
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