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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.

rs79050330

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400581 (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=0.000553 (138/249684, GnomAD_exome)
T=0.001043 (131/125568, TOPMED)
T=0.000637 (77/120860, ExAC) (+ 8 more)
T=0.00133 (105/78698, PAGE_STUDY)
T=0.00011 (7/61196, ALFA Project)
T=0.00096 (30/31394, GnomAD)
T=0.00077 (10/13006, GO-ESP)
T=0.0018 (9/5008, 1000G)
T=0.0002 (1/4480, Estonian)
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.18400581C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258091C>T
NAT2 RefSeqGene NG_012246.1:g.14337C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.578C>T T [ACG] > M [ATG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Thr193Met T (Thr) > M (Met) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.578C>T T [ACG] > M [ATG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Thr193Met T (Thr) > M (Met) 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 191416 C=0.999801 T=0.000199
European Sub 171132 C=0.999924 T=0.000076
African Sub 5104 C=0.9973 T=0.0027
African Others Sub 186 C=0.995 T=0.005
African American Sub 4918 C=0.9974 T=0.0026
Asian Sub 3428 C=0.9997 T=0.0003
East Asian Sub 2770 C=1.0000 T=0.0000
Other Asian Sub 658 C=0.998 T=0.002
Latin American 1 Sub 818 C=0.996 T=0.004
Latin American 2 Sub 1058 C=1.0000 T=0.0000
South Asian Sub 296 C=0.997 T=0.003
Other Sub 9580 C=0.9994 T=0.0006


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 249684 C=0.999447 T=0.000553
gnomAD - Exomes European Sub 134764 C=0.999896 T=0.000104
gnomAD - Exomes Asian Sub 48542 C=0.99893 T=0.00107
gnomAD - Exomes American Sub 34330 C=0.99962 T=0.00038
gnomAD - Exomes African Sub 16000 C=0.99644 T=0.00356
gnomAD - Exomes Ashkenazi Jewish Sub 9998 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6050 C=0.9997 T=0.0003
TopMed Global Study-wide 125568 C=0.998957 T=0.001043
ExAC Global Study-wide 120860 C=0.999363 T=0.000637
ExAC Europe Sub 73220 C=0.99992 T=0.00008
ExAC Asian Sub 25120 C=0.99881 T=0.00119
ExAC American Sub 11528 C=0.99974 T=0.00026
ExAC African Sub 10086 C=0.99623 T=0.00377
ExAC Other Sub 906 C=1.000 T=0.000
The PAGE Study Global Study-wide 78698 C=0.99867 T=0.00133
The PAGE Study AfricanAmerican Sub 32512 C=0.99797 T=0.00203
The PAGE Study Mexican Sub 10810 C=0.99981 T=0.00019
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9970 T=0.0030
The PAGE Study NativeHawaiian Sub 4534 C=0.9998 T=0.0002
The PAGE Study Cuban Sub 4230 C=0.9995 T=0.0005
The PAGE Study Dominican Sub 3828 C=0.9982 T=0.0018
The PAGE Study CentralAmerican Sub 2450 C=0.9988 T=0.0012
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
ALFA Total Global 61196 C=0.99989 T=0.00011
ALFA European Sub 57022 C=0.99996 T=0.00004
ALFA Other Sub 3166 C=0.9994 T=0.0006
ALFA African Sub 850 C=0.996 T=0.004
ALFA Asian Sub 106 C=1.000 T=0.000
ALFA Latin American 2 Sub 34 C=1.00 T=0.00
ALFA South Asian Sub 10 C=1.0 T=0.0
ALFA Latin American 1 Sub 8 C=1.0 T=0.0
gnomAD - Genomes Global Study-wide 31394 C=0.99904 T=0.00096
gnomAD - Genomes European Sub 18902 C=0.99989 T=0.00011
gnomAD - Genomes African Sub 8706 C=0.9969 T=0.0031
gnomAD - Genomes East Asian Sub 1560 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1088 C=0.9991 T=0.0009
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=0.99923 T=0.00077
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=0.9980 T=0.0020
1000Genomes Global Study-wide 5008 C=0.9982 T=0.0018
1000Genomes African Sub 1322 C=0.9955 T=0.0045
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=0.997 T=0.003
1000Genomes American Sub 694 C=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 T=0.0002
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.18400581= NC_000008.11:g.18400581C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258091= NC_000008.10:g.18258091C>T
NAT2 RefSeqGene NG_012246.1:g.14337= NG_012246.1:g.14337C>T
NAT2 transcript NM_000015.3:c.578= NM_000015.3:c.578C>T
NAT2 transcript NM_000015.2:c.578= NM_000015.2:c.578C>T
NAT2 transcript variant X1 XM_017012938.1:c.578= XM_017012938.1:c.578C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Thr193= NP_000006.2:p.Thr193Met
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Thr193= XP_016868427.1:p.Thr193Met
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#.

51 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss223576391 Jul 14, 2010 (132)
2 NHLBI-ESP ss342253609 May 09, 2011 (134)
3 ILLUMINA ss410878054 Sep 17, 2011 (135)
4 ILLUMINA ss482099465 May 04, 2012 (137)
5 ILLUMINA ss485580720 May 04, 2012 (137)
6 1000GENOMES ss490960724 May 04, 2012 (137)
7 EXOME_CHIP ss491410762 May 04, 2012 (137)
8 GOLDSTEINLAB ss507869072 May 04, 2012 (137)
9 ILLUMINA ss534499336 Sep 08, 2015 (146)
10 ILLUMINA ss779114974 Sep 08, 2015 (146)
11 ILLUMINA ss780867826 Sep 08, 2015 (146)
12 ILLUMINA ss781648870 Sep 08, 2015 (146)
13 ILLUMINA ss783552757 Sep 08, 2015 (146)
14 ILLUMINA ss834579227 Sep 08, 2015 (146)
15 1000GENOMES ss1328853910 Aug 21, 2014 (142)
16 EVA_EXAC ss1689107882 Apr 01, 2015 (144)
17 ILLUMINA ss1946231112 Feb 12, 2016 (147)
18 ILLUMINA ss1946231113 Feb 12, 2016 (147)
19 ILLUMINA ss1959092406 Feb 12, 2016 (147)
20 ILLUMINA ss1959092408 Feb 12, 2016 (147)
21 HUMAN_LONGEVITY ss2301164558 Dec 20, 2016 (150)
22 TOPMED ss2470822154 Dec 20, 2016 (150)
23 ILLUMINA ss2634717905 Nov 08, 2017 (151)
24 ILLUMINA ss2634717906 Nov 08, 2017 (151)
25 ILLUMINA ss2711131675 Nov 08, 2017 (151)
26 GNOMAD ss2737016722 Nov 08, 2017 (151)
27 GNOMAD ss2748005944 Nov 08, 2017 (151)
28 GNOMAD ss2863932602 Nov 08, 2017 (151)
29 ILLUMINA ss3022824456 Nov 08, 2017 (151)
30 ILLUMINA ss3022824457 Nov 08, 2017 (151)
31 TOPMED ss3555514758 Nov 08, 2017 (151)
32 ILLUMINA ss3625946939 Oct 12, 2018 (152)
33 ILLUMINA ss3625946940 Oct 12, 2018 (152)
34 ILLUMINA ss3630009724 Oct 12, 2018 (152)
35 ILLUMINA ss3630009725 Oct 12, 2018 (152)
36 ILLUMINA ss3632618569 Oct 12, 2018 (152)
37 ILLUMINA ss3635161285 Oct 12, 2018 (152)
38 ILLUMINA ss3640868575 Oct 12, 2018 (152)
39 ILLUMINA ss3644964286 Oct 12, 2018 (152)
40 ILLUMINA ss3644964287 Oct 12, 2018 (152)
41 ILLUMINA ss3653365286 Oct 12, 2018 (152)
42 ILLUMINA ss3653365287 Oct 12, 2018 (152)
43 EGCUT_WGS ss3670459163 Jul 13, 2019 (153)
44 ILLUMINA ss3726518838 Jul 13, 2019 (153)
45 ILLUMINA ss3744302586 Jul 13, 2019 (153)
46 ILLUMINA ss3744302587 Jul 13, 2019 (153)
47 ILLUMINA ss3745461075 Jul 13, 2019 (153)
48 PAGE_CC ss3771427489 Jul 13, 2019 (153)
49 EVA ss3824350627 Apr 26, 2020 (154)
50 EVA ss3825736889 Apr 26, 2020 (154)
51 SGDP_PRJ ss3869405012 Apr 26, 2020 (154)
52 1000Genomes NC_000008.10 - 18258091 Oct 12, 2018 (152)
53 Genetic variation in the Estonian population NC_000008.10 - 18258091 Oct 12, 2018 (152)
54 ExAC NC_000008.10 - 18258091 Oct 12, 2018 (152)
55 gnomAD - Genomes NC_000008.10 - 18258091 Jul 13, 2019 (153)
56 gnomAD - Exomes NC_000008.10 - 18258091 Jul 13, 2019 (153)
57 GO Exome Sequencing Project NC_000008.10 - 18258091 Oct 12, 2018 (152)
58 The PAGE Study NC_000008.11 - 18400581 Jul 13, 2019 (153)
59 SGDP_PRJ NC_000008.10 - 18258091 Apr 26, 2020 (154)
60 TopMed NC_000008.11 - 18400581 Oct 12, 2018 (152)
61 dbGaP Population Frequency Project NC_000008.11 - 18400581 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
ss485580720, ss507869072 NC_000008.9:18302370:C:T NC_000008.11:18400580:C:T (self)
40947092, 16197411, 9201241, 111847180, 6184664, 808486, 21421992, ss223576391, ss342253609, ss482099465, ss490960724, ss491410762, ss534499336, ss779114974, ss780867826, ss781648870, ss783552757, ss834579227, ss1328853910, ss1689107882, ss1946231112, ss1946231113, ss1959092406, ss1959092408, ss2470822154, ss2634717905, ss2634717906, ss2711131675, ss2737016722, ss2748005944, ss2863932602, ss3022824456, ss3022824457, ss3625946939, ss3625946940, ss3630009724, ss3630009725, ss3632618569, ss3635161285, ss3640868575, ss3644964286, ss3644964287, ss3653365286, ss3653365287, ss3670459163, ss3744302586, ss3744302587, ss3745461075, ss3824350627, ss3825736889, ss3869405012 NC_000008.10:18258090:C:T NC_000008.11:18400580:C:T (self)
648958, 384382886, 82644676, ss2301164558, ss3555514758, ss3726518838, ss3771427489 NC_000008.11:18400580:C:T NC_000008.11:18400580:C:T (self)
ss410878054 NT_167187.1:6116236:C:T NC_000008.11:18400580: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 rs79050330

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