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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.

rs45518335

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400686 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000327 (82/250844, GnomAD_exome)
T=0.001561 (196/125568, TOPMED)
T=0.000413 (50/120986, ExAC) (+ 7 more)
T=0.00003 (3/94980, ALFA Project)
T=0.00202 (159/78700, PAGE_STUDY)
T=0.00140 (44/31400, GnomAD)
T=0.00200 (26/13006, GO-ESP)
T=0.0018 (9/5008, 1000G)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
0 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.18400686C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258196C>T
NAT2 RefSeqGene NG_012246.1:g.14442C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.683C>T P [CCA] > L [CTA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Pro228Leu P (Pro) > L (Leu) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.683C>T P [CCA] > L [CTA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Pro228Leu P (Pro) > L (Leu) 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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 94980 C=0.99997 T=0.00003
European Sub 85594 C=0.99999 T=0.00001
African Sub 844 C=0.999 T=0.001
African Others Sub 16 C=1.00 T=0.00
African American Sub 828 C=0.999 T=0.001
Asian Sub 170 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 58 C=1.00 T=0.00
Latin American 1 Sub 6 C=1.0 T=0.0
Latin American 2 Sub 22 C=1.00 T=0.00
South Asian Sub 14 C=1.00 T=0.00
Other Sub 8330 C=0.9999 T=0.0001


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 250844 C=0.999673 T=0.000327
gnomAD - Exomes European Sub 134950 C=0.999978 T=0.000022
gnomAD - Exomes Asian Sub 49000 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34526 C=0.99983 T=0.00017
gnomAD - Exomes African Sub 16192 C=0.99555 T=0.00445
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6104 C=0.9998 T=0.0002
TopMed Global Study-wide 125568 C=0.998439 T=0.001561
ExAC Global Study-wide 120986 C=0.999587 T=0.000413
ExAC Europe Sub 73228 C=1.00000 T=0.00000
ExAC Asian Sub 25142 C=1.00000 T=0.00000
ExAC American Sub 11512 C=0.99991 T=0.00009
ExAC African Sub 10196 C=0.99519 T=0.00481
ExAC Other Sub 908 C=1.000 T=0.000
ALFA Total Global 94980 C=0.99997 T=0.00003
ALFA European Sub 85594 C=0.99999 T=0.00001
ALFA Other Sub 8330 C=0.9999 T=0.0001
ALFA African Sub 844 C=0.999 T=0.001
ALFA Asian Sub 170 C=1.000 T=0.000
ALFA Latin American 2 Sub 22 C=1.00 T=0.00
ALFA South Asian Sub 14 C=1.00 T=0.00
ALFA Latin American 1 Sub 6 C=1.0 T=0.0
The PAGE Study Global Study-wide 78700 C=0.99798 T=0.00202
The PAGE Study AfricanAmerican Sub 32514 C=0.99597 T=0.00403
The PAGE Study Mexican Sub 10810 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9986 T=0.0014
The PAGE Study NativeHawaiian Sub 4534 C=0.9998 T=0.0002
The PAGE Study Cuban Sub 4230 C=0.9986 T=0.0014
The PAGE Study Dominican Sub 3828 C=0.9976 T=0.0024
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=0.9992 T=0.0008
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 31400 C=0.99860 T=0.00140
gnomAD - Genomes European Sub 18902 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 8712 C=0.9949 T=0.0051
gnomAD - Genomes East Asian Sub 1560 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1088 C=1.0000 T=0.0000
gnomAD - Genomes American Sub 848 C=1.000 T=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.99800 T=0.00200
GO Exome Sequencing Project European American Sub 8600 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4406 C=0.9941 T=0.0059
1000Genomes Global Study-wide 5008 C=0.9982 T=0.0018
1000Genomes African Sub 1322 C=0.9932 T=0.0068
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
SGDP_PRJ Global Study-wide 2 C=0.5 T=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 C= T
GRCh38.p12 chr 8 NC_000008.11:g.18400686= NC_000008.11:g.18400686C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258196= NC_000008.10:g.18258196C>T
NAT2 RefSeqGene NG_012246.1:g.14442= NG_012246.1:g.14442C>T
NAT2 transcript NM_000015.3:c.683= NM_000015.3:c.683C>T
NAT2 transcript NM_000015.2:c.683= NM_000015.2:c.683C>T
NAT2 transcript variant X1 XM_017012938.1:c.683= XM_017012938.1:c.683C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Pro228= NP_000006.2:p.Pro228Leu
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Pro228= XP_016868427.1:p.Pro228Leu
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#.

45 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss70456620 May 17, 2007 (127)
2 1000GENOMES ss115075137 Jan 25, 2009 (130)
3 SEATTLESEQ ss159716516 Dec 01, 2009 (131)
4 ILLUMINA ss161103333 Dec 01, 2009 (131)
5 COMPLETE_GENOMICS ss164094708 Jul 04, 2010 (132)
6 1000GENOMES ss334725016 May 09, 2011 (134)
7 NHLBI-ESP ss342253618 May 09, 2011 (134)
8 ILLUMINA ss479344310 Sep 08, 2015 (146)
9 1000GENOMES ss490960728 May 04, 2012 (137)
10 EXOME_CHIP ss491410769 May 04, 2012 (137)
11 ILLUMINA ss535195084 Sep 08, 2015 (146)
12 ILLUMINA ss780867833 Sep 08, 2015 (146)
13 ILLUMINA ss783552764 Sep 08, 2015 (146)
14 1000GENOMES ss1328853920 Aug 21, 2014 (142)
15 EVA_EXAC ss1689107914 Apr 01, 2015 (144)
16 ILLUMINA ss1752722194 Sep 08, 2015 (146)
17 ILLUMINA ss1917826212 Feb 12, 2016 (147)
18 ILLUMINA ss1946231119 Feb 12, 2016 (147)
19 ILLUMINA ss1959092414 Feb 12, 2016 (147)
20 HUMAN_LONGEVITY ss2301164568 Dec 20, 2016 (150)
21 TOPMED ss2470822165 Dec 20, 2016 (150)
22 ILLUMINA ss2634717912 Nov 08, 2017 (151)
23 ILLUMINA ss2711131679 Nov 08, 2017 (151)
24 GNOMAD ss2737016756 Nov 08, 2017 (151)
25 GNOMAD ss2748005964 Nov 08, 2017 (151)
26 GNOMAD ss2863932622 Nov 08, 2017 (151)
27 AFFY ss2985432621 Nov 08, 2017 (151)
28 ILLUMINA ss3022824461 Nov 08, 2017 (151)
29 TOPMED ss3555514783 Nov 08, 2017 (151)
30 ILLUMINA ss3630009733 Oct 12, 2018 (152)
31 ILLUMINA ss3630009734 Oct 12, 2018 (152)
32 ILLUMINA ss3635161292 Oct 12, 2018 (152)
33 ILLUMINA ss3636898283 Oct 12, 2018 (152)
34 ILLUMINA ss3640868582 Oct 12, 2018 (152)
35 ILLUMINA ss3644964293 Oct 12, 2018 (152)
36 ILLUMINA ss3653365291 Oct 12, 2018 (152)
37 ILLUMINA ss3654194412 Oct 12, 2018 (152)
38 ILLUMINA ss3726518842 Jul 13, 2019 (153)
39 ILLUMINA ss3744577640 Jul 13, 2019 (153)
40 ILLUMINA ss3745461082 Jul 13, 2019 (153)
41 PAGE_CC ss3771427495 Jul 13, 2019 (153)
42 ILLUMINA ss3772953680 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3810861618 Jul 13, 2019 (153)
44 EVA ss3824350638 Apr 26, 2020 (154)
45 SGDP_PRJ ss3869405017 Apr 26, 2020 (154)
46 1000Genomes NC_000008.10 - 18258196 Oct 12, 2018 (152)
47 ExAC NC_000008.10 - 18258196 Oct 12, 2018 (152)
48 gnomAD - Genomes NC_000008.10 - 18258196 Jul 13, 2019 (153)
49 gnomAD - Exomes NC_000008.10 - 18258196 Jul 13, 2019 (153)
50 GO Exome Sequencing Project NC_000008.10 - 18258196 Oct 12, 2018 (152)
51 The PAGE Study NC_000008.11 - 18400686 Jul 13, 2019 (153)
52 SGDP_PRJ NC_000008.10 - 18258196 Apr 26, 2020 (154)
53 TopMed NC_000008.11 - 18400686 Oct 12, 2018 (152)
54 dbGaP Population Frequency Project NC_000008.11 - 18400686 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss115075137, ss164094708 NC_000008.9:18302475:C:T NC_000008.11:18400685:C:T (self)
40947102, 9201273, 111847200, 6184702, 808496, 21421997, ss334725016, ss342253618, ss479344310, ss490960728, ss491410769, ss535195084, ss780867833, ss783552764, ss1328853920, ss1689107914, ss1752722194, ss1917826212, ss1946231119, ss1959092414, ss2470822165, ss2634717912, ss2711131679, ss2737016756, ss2748005964, ss2863932622, ss2985432621, ss3022824461, ss3630009733, ss3630009734, ss3635161292, ss3636898283, ss3640868582, ss3644964293, ss3653365291, ss3654194412, ss3744577640, ss3745461082, ss3772953680, ss3824350638, ss3869405017 NC_000008.10:18258195:C:T NC_000008.11:18400685:C:T (self)
648964, 384382907, 351697316, ss2301164568, ss3555514783, ss3726518842, ss3771427495, ss3810861618 NC_000008.11:18400685:C:T NC_000008.11:18400685:C:T (self)
ss70456620, ss159716516, ss161103333 NT_167187.1:6116341:C:T NC_000008.11:18400685:C:T (self)
Help

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

No publications for rs45518335

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