Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs4986992

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222068 (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=0.001373 (344/250498, GnomAD_exome)
G=0.005280 (663/125568, TOPMED)
G=0.001589 (191/120170, ExAC) (+ 10 more)
G=0.00081 (71/88052, ALFA Project)
G=0.00770 (606/78698, PAGE_STUDY)
G=0.00481 (151/31398, GnomAD)
G=0.00477 (62/13006, GO-ESP)
G=0.0046 (23/5008, 1000G)
G=0.023 (18/786, HapMap)
G=0.003 (1/358, PharmGKB)
G=0.005 (1/216, Qatari)
T=0.5 (4/8, SGDP_PRJ)
G=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Synonymous Variant
Publications
1 citation
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.18222068T>G
GRCh37.p13 chr 8 NC_000008.10:g.18079577T>G
NAT1 RefSeqGene NG_012245.2:g.56607T>G
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 4 NM_001160173.3:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 5 NM_000662.8:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 1 NM_001160170.4:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 8 NM_001160176.4:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 10 NM_001291962.2:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 9 NM_001160179.3:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 2 NM_001160171.4:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 7 NM_001160175.4:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant 3 NM_001160172.4:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant X2 XM_011544687.1:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant X1 XM_011544688.1:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant X3 XM_017013947.1:c.207T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Leu69= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant X4 XM_006716410.3:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Leu7= L (Leu) > L (Leu) Synonymous Variant
NAT1 transcript variant X5 XM_011544689.2:c.21T>G L [CTT] > L [CTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Leu7= L (Leu) > L (Leu) 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 248430 T=0.999259 G=0.000741
European Sub 221228 T=0.999846 G=0.000154
African Sub 8198 T=0.9851 G=0.0149
African Others Sub 282 T=0.989 G=0.011
African American Sub 7916 T=0.9850 G=0.0150
Asian Sub 3752 T=1.0000 G=0.0000
East Asian Sub 3054 T=1.0000 G=0.0000
Other Asian Sub 698 T=1.000 G=0.000
Latin American 1 Sub 1186 T=0.9882 G=0.0118
Latin American 2 Sub 1282 T=1.0000 G=0.0000
South Asian Sub 360 T=1.000 G=0.000
Other Sub 12424 T=0.99887 G=0.00113


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 250498 T=0.998627 G=0.001373
gnomAD - Exomes European Sub 134808 T=0.999904 G=0.000096
gnomAD - Exomes Asian Sub 48866 T=0.99994 G=0.00006
gnomAD - Exomes American Sub 34464 T=0.99875 G=0.00125
gnomAD - Exomes African Sub 16250 T=0.98295 G=0.01705
gnomAD - Exomes Ashkenazi Jewish Sub 10014 T=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6096 T=0.9987 G=0.0013
TopMed Global Study-wide 125568 T=0.994720 G=0.005280
ExAC Global Study-wide 120170 T=0.998411 G=0.001589
ExAC Europe Sub 72894 T=0.99988 G=0.00012
ExAC Asian Sub 24442 T=0.99996 G=0.00004
ExAC American Sub 11562 T=0.99896 G=0.00104
ExAC African Sub 10376 T=0.98381 G=0.01619
ExAC Other Sub 896 T=0.999 G=0.001
ALFA Total Global 88052 T=0.99919 G=0.00081
ALFA European Sub 80618 T=0.99985 G=0.00015
ALFA Other Sub 3556 T=0.9992 G=0.0008
ALFA African Sub 3308 T=0.9849 G=0.0151
ALFA Latin American 1 Sub 348 T=0.983 G=0.017
ALFA Asian Sub 122 T=1.000 G=0.000
ALFA South Asian Sub 58 T=1.00 G=0.00
ALFA Latin American 2 Sub 42 T=1.00 G=0.00
The PAGE Study Global Study-wide 78698 T=0.99230 G=0.00770
The PAGE Study AfricanAmerican Sub 32514 T=0.98416 G=0.01584
The PAGE Study Mexican Sub 10808 T=0.99898 G=0.00102
The PAGE Study Asian Sub 8318 T=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9965 G=0.0035
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 G=0.0000
The PAGE Study Cuban Sub 4230 T=0.9976 G=0.0024
The PAGE Study Dominican Sub 3828 T=0.9919 G=0.0081
The PAGE Study CentralAmerican Sub 2450 T=0.9988 G=0.0012
The PAGE Study SouthAmerican Sub 1982 T=0.9985 G=0.0015
The PAGE Study NativeAmerican Sub 1260 T=0.9960 G=0.0040
The PAGE Study SouthAsian Sub 856 T=1.000 G=0.000
gnomAD - Genomes Global Study-wide 31398 T=0.99519 G=0.00481
gnomAD - Genomes European Sub 18904 T=0.99995 G=0.00005
gnomAD - Genomes African Sub 8714 T=0.9829 G=0.0171
gnomAD - Genomes East Asian Sub 1554 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 1088 T=0.9991 G=0.0009
gnomAD - Genomes American Sub 848 T=1.000 G=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99523 G=0.00477
GO Exome Sequencing Project European American Sub 8600 T=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 T=0.9862 G=0.0138
1000Genomes Global Study-wide 5008 T=0.9954 G=0.0046
1000Genomes African Sub 1322 T=0.9834 G=0.0166
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=1.0000 G=0.0000
1000Genomes South Asian Sub 978 T=1.000 G=0.000
1000Genomes American Sub 694 T=0.999 G=0.001
HapMap Global Study-wide 786 T=0.977 G=0.023
HapMap African Sub 688 T=0.975 G=0.025
HapMap American Sub 98 T=0.99 G=0.01
PharmGKB Aggregated Global Study-wide 358 T=0.997 G=0.003
PharmGKB Aggregated PA147983073 Sub 358 T=0.997 G=0.003
Qatari Global Study-wide 216 T=0.995 G=0.005
SGDP_PRJ Global Study-wide 8 T=0.5 G=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 T= G
GRCh38.p12 chr 8 NC_000008.11:g.18222068= NC_000008.11:g.18222068T>G
GRCh37.p13 chr 8 NC_000008.10:g.18079577= NC_000008.10:g.18079577T>G
NAT1 RefSeqGene NG_012245.2:g.56607= NG_012245.2:g.56607T>G
NAT1 transcript variant 5 NM_000662.8:c.21= NM_000662.8:c.21T>G
NAT1 transcript variant 5 NM_000662.7:c.21= NM_000662.7:c.21T>G
NAT1 transcript variant 5 NM_000662.5:c.21= NM_000662.5:c.21T>G
NAT1 transcript variant 1 NM_001160170.4:c.21= NM_001160170.4:c.21T>G
NAT1 transcript variant 1 NM_001160170.3:c.21= NM_001160170.3:c.21T>G
NAT1 transcript variant 1 NM_001160170.1:c.21= NM_001160170.1:c.21T>G
NAT1 transcript variant 2 NM_001160171.4:c.21= NM_001160171.4:c.21T>G
NAT1 transcript variant 2 NM_001160171.3:c.21= NM_001160171.3:c.21T>G
NAT1 transcript variant 2 NM_001160171.1:c.21= NM_001160171.1:c.21T>G
NAT1 transcript variant 3 NM_001160172.4:c.21= NM_001160172.4:c.21T>G
NAT1 transcript variant 3 NM_001160172.3:c.21= NM_001160172.3:c.21T>G
NAT1 transcript variant 3 NM_001160172.1:c.21= NM_001160172.1:c.21T>G
NAT1 transcript variant 7 NM_001160175.4:c.207= NM_001160175.4:c.207T>G
NAT1 transcript variant 7 NM_001160175.3:c.207= NM_001160175.3:c.207T>G
NAT1 transcript variant 7 NM_001160175.1:c.207= NM_001160175.1:c.207T>G
NAT1 transcript variant 8 NM_001160176.4:c.207= NM_001160176.4:c.207T>G
NAT1 transcript variant 8 NM_001160176.3:c.207= NM_001160176.3:c.207T>G
NAT1 transcript variant 8 NM_001160176.1:c.207= NM_001160176.1:c.207T>G
NAT1 transcript variant 9 NM_001160179.3:c.21= NM_001160179.3:c.21T>G
NAT1 transcript variant 9 NM_001160179.2:c.21= NM_001160179.2:c.21T>G
NAT1 transcript variant 9 NM_001160179.1:c.21= NM_001160179.1:c.21T>G
NAT1 transcript variant 4 NM_001160173.3:c.21= NM_001160173.3:c.21T>G
NAT1 transcript variant 4 NM_001160173.1:c.21= NM_001160173.1:c.21T>G
NAT1 transcript variant 10 NM_001291962.2:c.207= NM_001291962.2:c.207T>G
NAT1 transcript variant 10 NM_001291962.1:c.207= NM_001291962.1:c.207T>G
NAT1 transcript variant 6 NM_001160174.2:c.21= NM_001160174.2:c.21T>G
NAT1 transcript variant 6 NM_001160174.1:c.21= NM_001160174.1:c.21T>G
NAT1 transcript variant X4 XM_006716410.3:c.21= XM_006716410.3:c.21T>G
NAT1 transcript variant X5 XM_011544689.2:c.21= XM_011544689.2:c.21T>G
NAT1 transcript variant X3 XM_017013947.1:c.207= XM_017013947.1:c.207T>G
NAT1 transcript variant X2 XM_011544687.1:c.207= XM_011544687.1:c.207T>G
NAT1 transcript variant X1 XM_011544688.1:c.207= XM_011544688.1:c.207T>G
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Leu7= NP_000653.3:p.Leu7=
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Leu7= NP_001153642.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Leu7= NP_001153643.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Leu7= NP_001153644.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Leu69= NP_001153647.1:p.Leu69=
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Leu69= NP_001153648.1:p.Leu69=
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Leu7= NP_001153651.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Leu7= NP_001153645.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Leu69= NP_001278891.1:p.Leu69=
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Leu7= NP_001153646.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Leu7= XP_006716473.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Leu7= XP_011542991.1:p.Leu7=
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Leu69= XP_016869436.1:p.Leu69=
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Leu69= XP_011542989.1:p.Leu69=
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Leu69= XP_011542990.1:p.Leu69=
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#.

65 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586790 Mar 31, 2003 (113)
2 ILLUMINA ss75260769 Dec 06, 2007 (129)
3 PHARMGKB_AB_DME ss84168382 Dec 14, 2007 (130)
4 KRIBB_YJKIM ss119497111 Dec 01, 2009 (131)
5 ILLUMINA ss160735780 Dec 01, 2009 (131)
6 ILLUMINA ss173903475 Jul 04, 2010 (132)
7 1000GENOMES ss223575049 Jul 14, 2010 (132)
8 NHLBI-ESP ss342253575 May 09, 2011 (134)
9 ILLUMINA ss481125925 May 04, 2012 (137)
10 ILLUMINA ss481148077 May 04, 2012 (137)
11 ILLUMINA ss482137014 Sep 08, 2015 (146)
12 ILLUMINA ss482177647 May 04, 2012 (137)
13 ILLUMINA ss485358038 May 04, 2012 (137)
14 ILLUMINA ss485580347 May 04, 2012 (137)
15 1000GENOMES ss490960704 May 04, 2012 (137)
16 ILLUMINA ss534532637 Sep 08, 2015 (146)
17 TISHKOFF ss560587247 Apr 25, 2013 (138)
18 ILLUMINA ss779116980 Aug 21, 2014 (142)
19 ILLUMINA ss781674753 Aug 21, 2014 (142)
20 ILLUMINA ss783124728 Aug 21, 2014 (142)
21 ILLUMINA ss832383551 Apr 01, 2015 (144)
22 ILLUMINA ss834581261 Aug 21, 2014 (142)
23 1000GENOMES ss1328847103 Aug 21, 2014 (142)
24 EVA_EXAC ss1689107572 Apr 01, 2015 (144)
25 ILLUMINA ss1752722032 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1928543851 Feb 12, 2016 (147)
27 ILLUMINA ss1946231043 Feb 12, 2016 (147)
28 ILLUMINA ss1959092232 Feb 12, 2016 (147)
29 HUMAN_LONGEVITY ss2301150643 Dec 20, 2016 (150)
30 TOPMED ss2470808485 Dec 20, 2016 (150)
31 ILLUMINA ss2634717591 Nov 08, 2017 (151)
32 ILLUMINA ss2634717592 Nov 08, 2017 (151)
33 ILLUMINA ss2634717593 Nov 08, 2017 (151)
34 ILLUMINA ss2711131549 Nov 08, 2017 (151)
35 GNOMAD ss2737016297 Nov 08, 2017 (151)
36 GNOMAD ss2748005824 Nov 08, 2017 (151)
37 GNOMAD ss2863914999 Nov 08, 2017 (151)
38 AFFY ss2985432565 Nov 08, 2017 (151)
39 AFFY ss2986074619 Nov 08, 2017 (151)
40 ILLUMINA ss3022824279 Nov 08, 2017 (151)
41 CSIRBIOHTS ss3029637970 Nov 08, 2017 (151)
42 TOPMED ss3555475030 Nov 08, 2017 (151)
43 ILLUMINA ss3625946882 Oct 12, 2018 (152)
44 ILLUMINA ss3630009288 Oct 12, 2018 (152)
45 ILLUMINA ss3632618291 Oct 12, 2018 (152)
46 ILLUMINA ss3633492864 Oct 12, 2018 (152)
47 ILLUMINA ss3634219265 Oct 12, 2018 (152)
48 ILLUMINA ss3635161149 Oct 12, 2018 (152)
49 ILLUMINA ss3635898259 Oct 12, 2018 (152)
50 ILLUMINA ss3636897911 Oct 12, 2018 (152)
51 ILLUMINA ss3637651394 Oct 12, 2018 (152)
52 ILLUMINA ss3638747162 Oct 12, 2018 (152)
53 ILLUMINA ss3640868439 Oct 12, 2018 (152)
54 ILLUMINA ss3643679052 Oct 12, 2018 (152)
55 ILLUMINA ss3644964219 Oct 12, 2018 (152)
56 ILLUMINA ss3653365101 Oct 12, 2018 (152)
57 ILLUMINA ss3654194352 Oct 12, 2018 (152)
58 ILLUMINA ss3726518678 Jul 13, 2019 (153)
59 ILLUMINA ss3744302536 Jul 13, 2019 (153)
60 ILLUMINA ss3745460942 Jul 13, 2019 (153)
61 PAGE_CC ss3771427355 Jul 13, 2019 (153)
62 ILLUMINA ss3772953545 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3810859201 Jul 13, 2019 (153)
64 EVA ss3824350572 Apr 26, 2020 (154)
65 SGDP_PRJ ss3869401312 Apr 26, 2020 (154)
66 1000Genomes NC_000008.10 - 18079577 Oct 12, 2018 (152)
67 ExAC NC_000008.10 - 18079577 Oct 12, 2018 (152)
68 gnomAD - Genomes NC_000008.10 - 18079577 Jul 13, 2019 (153)
69 gnomAD - Exomes NC_000008.10 - 18079577 Jul 13, 2019 (153)
70 GO Exome Sequencing Project NC_000008.10 - 18079577 Oct 12, 2018 (152)
71 HapMap NC_000008.11 - 18222068 Apr 26, 2020 (154)
72 The PAGE Study NC_000008.11 - 18222068 Jul 13, 2019 (153)
73 PharmGKB Aggregated NC_000008.11 - 18222068 Apr 26, 2020 (154)
74 Qatari NC_000008.10 - 18079577 Apr 26, 2020 (154)
75 SGDP_PRJ NC_000008.10 - 18079577 Apr 26, 2020 (154)
76 TopMed NC_000008.11 - 18222068 Oct 12, 2018 (152)
77 dbGaP Population Frequency Project NC_000008.11 - 18222068 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)
rs57470376 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481125925, ss485580347, ss3643679052 NC_000008.9:18123856:T:G NC_000008.11:18222067:T:G (self)
40940086, 9200914, 111829246, 6184183, 808433, 10585781, 21418292, ss223575049, ss342253575, ss481148077, ss482137014, ss482177647, ss485358038, ss490960704, ss534532637, ss560587247, ss779116980, ss781674753, ss783124728, ss832383551, ss834581261, ss1328847103, ss1689107572, ss1752722032, ss1928543851, ss1946231043, ss1959092232, ss2470808485, ss2634717591, ss2634717592, ss2634717593, ss2711131549, ss2737016297, ss2748005824, ss2863914999, ss2985432565, ss2986074619, ss3022824279, ss3029637970, ss3625946882, ss3630009288, ss3632618291, ss3633492864, ss3634219265, ss3635161149, ss3635898259, ss3636897911, ss3637651394, ss3638747162, ss3640868439, ss3644964219, ss3653365101, ss3654194352, ss3744302536, ss3745460942, ss3772953545, ss3824350572, ss3869401312 NC_000008.10:18079576:T:G NC_000008.11:18222067:T:G (self)
3577048, 648824, 12426, 384349435, 396725378, ss2301150643, ss3555475030, ss3726518678, ss3771427355, ss3810859201 NC_000008.11:18222067:T:G NC_000008.11:18222067:T:G (self)
ss5586790, ss75260769, ss84168382, ss119497111, ss160735780, ss173903475 NT_167187.1:5937722:T:G NC_000008.11:18222067: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.

1 citation for rs4986992
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
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