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 Aliases 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.

rs55700793

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400769 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.002134 (268/125568, TOPMED)
G=0.000623 (75/120374, ExAC)
G=0.00004 (4/90258, ALFA Project) (+ 7 more)
G=0.00304 (239/78696, PAGE_STUDY)
G=0.00162 (51/31406, GnomAD)
G=0.00269 (35/13006, GO-ESP)
G=0.0016 (8/5008, 1000G)
G=0.005 (1/216, Qatari)
A=0.5 (1/2, SGDP_PRJ)
G=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Stop Gained
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.18400769A>G
GRCh38.p12 chr 8 NC_000008.11:g.18400769A>T
GRCh37.p13 chr 8 NC_000008.10:g.18258279A>G
GRCh37.p13 chr 8 NC_000008.10:g.18258279A>T
NAT2 RefSeqGene NG_012246.1:g.14525A>G
NAT2 RefSeqGene NG_012246.1:g.14525A>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.766A>G K [AAA] > E [GAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Lys256Glu K (Lys) > E (Glu) Missense Variant
NAT2 transcript NM_000015.3:c.766A>T K [AAA] > * [TAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Lys256Ter K (Lys) > * (Ter) Stop Gained
NAT2 transcript variant X1 XM_017012938.1:c.766A>G K [AAA] > E [GAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Lys256Glu K (Lys) > E (Glu) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.766A>T K [AAA] > * [TAA] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Lys256Ter K (Lys) > * (Ter) Stop Gained
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 90258 A=0.99996 G=0.00004
European Sub 81062 A=0.99999 G=0.00001
African Sub 844 A=0.996 G=0.004
African Others Sub 16 A=0.94 G=0.06
African American Sub 828 A=0.998 G=0.002
Asian Sub 170 A=1.000 G=0.000
East Asian Sub 112 A=1.000 G=0.000
Other Asian Sub 58 A=1.00 G=0.00
Latin American 1 Sub 6 A=1.0 G=0.0
Latin American 2 Sub 22 A=1.00 G=0.00
South Asian Sub 14 A=1.00 G=0.00
Other Sub 8140 A=1.0000 G=0.0000


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
TopMed Global Study-wide 125568 A=0.997866 G=0.002134
ExAC Global Study-wide 120374 A=0.999377 G=0.000623
ExAC Europe Sub 72842 A=1.00000 G=0.00000
ExAC Asian Sub 25100 A=1.00000 G=0.00000
ExAC American Sub 11470 A=0.99983 G=0.00017
ExAC African Sub 10060 A=0.99274 G=0.00726
ExAC Other Sub 902 A=1.000 G=0.000
ALFA Total Global 90258 A=0.99996 G=0.00004
ALFA European Sub 81062 A=0.99999 G=0.00001
ALFA Other Sub 8140 A=1.0000 G=0.0000
ALFA African Sub 844 A=0.996 G=0.004
ALFA Asian Sub 170 A=1.000 G=0.000
ALFA Latin American 2 Sub 22 A=1.00 G=0.00
ALFA South Asian Sub 14 A=1.00 G=0.00
ALFA Latin American 1 Sub 6 A=1.0 G=0.0
The PAGE Study Global Study-wide 78696 A=0.99696 G=0.00304
The PAGE Study AfricanAmerican Sub 32514 A=0.99413 G=0.00587
The PAGE Study Mexican Sub 10810 A=0.99972 G=0.00028
The PAGE Study Asian Sub 8318 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9984 G=0.0016
The PAGE Study NativeHawaiian Sub 4534 A=1.0000 G=0.0000
The PAGE Study Cuban Sub 4228 A=0.9976 G=0.0024
The PAGE Study Dominican Sub 3826 A=0.9969 G=0.0031
The PAGE Study CentralAmerican Sub 2450 A=0.9984 G=0.0016
The PAGE Study SouthAmerican Sub 1982 A=0.9980 G=0.0020
The PAGE Study NativeAmerican Sub 1260 A=0.9984 G=0.0016
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
gnomAD - Genomes Global Study-wide 31406 A=0.99838 G=0.00162
gnomAD - Genomes European Sub 18906 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 8714 A=0.9941 G=0.0059
gnomAD - Genomes East Asian Sub 1560 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 1088 A=1.0000 G=0.0000
gnomAD - Genomes American Sub 848 A=1.000 G=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99731 G=0.00269
GO Exome Sequencing Project European American Sub 8600 A=1.0000 G=0.0000
GO Exome Sequencing Project African American Sub 4406 A=0.9921 G=0.0079
1000Genomes Global Study-wide 5008 A=0.9984 G=0.0016
1000Genomes African Sub 1322 A=0.9947 G=0.0053
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.999 G=0.001
Qatari Global Study-wide 216 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 2 A=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 A= G T Note
GRCh38.p12 chr 8 NC_000008.11:g.1840…

NC_000008.11:g.18400769=

NC_000008.11:g.1840…

NC_000008.11:g.18400769A>G

NC_000008.11:g.1840…

NC_000008.11:g.18400769A>T

GRCh37.p13 chr 8 NC_000008.10:g.1825…

NC_000008.10:g.18258279=

NC_000008.10:g.1825…

NC_000008.10:g.18258279A>G

NC_000008.10:g.1825…

NC_000008.10:g.18258279A>T

NAT2 RefSeqGene NG_012246.1:g.14525= NG_012246.1:g.14525…

NG_012246.1:g.14525A>G

NG_012246.1:g.14525…

NG_012246.1:g.14525A>T

NAT2 transcript NM_000015.3:c.766= NM_000015.3:c.766A>G NM_000015.3:c.766A>T
NAT2 transcript NM_000015.2:c.766= NM_000015.2:c.766A>G NM_000015.2:c.766A>T
NAT2 transcript variant X1 XM_017012938.1:c.76…

XM_017012938.1:c.766=

XM_017012938.1:c.76…

XM_017012938.1:c.766A>G

XM_017012938.1:c.76…

XM_017012938.1:c.766A>T

arylamine N-acetyltransferase 2 NP_000006.2:p.Lys25…

NP_000006.2:p.Lys256=

NP_000006.2:p.Lys25…

NP_000006.2:p.Lys256Glu

NP_000006.2:p.Lys25…

NP_000006.2:p.Lys256Ter

arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Ly…

XP_016868427.1:p.Lys256=

XP_016868427.1:p.Ly…

XP_016868427.1:p.Lys256Glu

XP_016868427.1:p.Ly…

XP_016868427.1:p.Lys256Ter

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#.

39 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGM_KYOTO ss76869175 Dec 06, 2007 (129)
2 1000GENOMES ss334725017 May 09, 2011 (134)
3 NHLBI-ESP ss342253622 May 09, 2011 (134)
4 1000GENOMES ss490960729 May 04, 2012 (137)
5 EXOME_CHIP ss491410770 May 04, 2012 (137)
6 ILLUMINA ss535178927 Sep 08, 2015 (146)
7 ILLUMINA ss780867834 Sep 08, 2015 (146)
8 ILLUMINA ss783552765 Sep 08, 2015 (146)
9 1000GENOMES ss1328853922 Aug 21, 2014 (142)
10 EVA_EXAC ss1689107932 Apr 01, 2015 (144)
11 ILLUMINA ss1752722195 Sep 08, 2015 (146)
12 ILLUMINA ss1917826213 Feb 12, 2016 (147)
13 WEILL_CORNELL_DGM ss1928545819 Feb 12, 2016 (147)
14 ILLUMINA ss1946231121 Feb 12, 2016 (147)
15 ILLUMINA ss1959092417 Feb 12, 2016 (147)
16 HUMAN_LONGEVITY ss2301164575 Dec 20, 2016 (150)
17 TOPMED ss2470822172 Dec 20, 2016 (150)
18 ILLUMINA ss2634717914 Nov 08, 2017 (151)
19 GNOMAD ss2737016783 Nov 08, 2017 (151)
20 GNOMAD ss2748005971 Nov 08, 2017 (151)
21 GNOMAD ss2863932629 Nov 08, 2017 (151)
22 AFFY ss2985432623 Nov 08, 2017 (151)
23 ILLUMINA ss3022824463 Nov 08, 2017 (151)
24 CSIRBIOHTS ss3029637980 Nov 08, 2017 (151)
25 TOPMED ss3555514797 Nov 08, 2017 (151)
26 ILLUMINA ss3630009736 Oct 12, 2018 (152)
27 ILLUMINA ss3630009737 Oct 12, 2018 (152)
28 ILLUMINA ss3635161293 Oct 12, 2018 (152)
29 ILLUMINA ss3640868583 Oct 12, 2018 (152)
30 ILLUMINA ss3644964295 Oct 12, 2018 (152)
31 ILLUMINA ss3653365293 Oct 12, 2018 (152)
32 ILLUMINA ss3654194414 Oct 12, 2018 (152)
33 ILLUMINA ss3726518844 Jul 13, 2019 (153)
34 ILLUMINA ss3744577641 Jul 13, 2019 (153)
35 ILLUMINA ss3745461083 Jul 13, 2019 (153)
36 PAGE_CC ss3771427497 Jul 13, 2019 (153)
37 ILLUMINA ss3772953681 Jul 13, 2019 (153)
38 EVA ss3824350642 Apr 26, 2020 (154)
39 SGDP_PRJ ss3869405018 Apr 26, 2020 (154)
40 1000Genomes NC_000008.10 - 18258279 Oct 12, 2018 (152)
41 ExAC NC_000008.10 - 18258279 Oct 12, 2018 (152)
42 gnomAD - Genomes NC_000008.10 - 18258279 Jul 13, 2019 (153)
43 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184731 (NC_000008.10:18258278:A:A 249796/249912, NC_000008.10:18258278:A:G 116/249912)
Row 6184732 (NC_000008.10:18258278:A:A 249911/249912, NC_000008.10:18258278:A:T 1/249912)

- Jul 13, 2019 (153)
44 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184731 (NC_000008.10:18258278:A:A 249796/249912, NC_000008.10:18258278:A:G 116/249912)
Row 6184732 (NC_000008.10:18258278:A:A 249911/249912, NC_000008.10:18258278:A:T 1/249912)

- Jul 13, 2019 (153)
45 GO Exome Sequencing Project NC_000008.10 - 18258279 Oct 12, 2018 (152)
46 The PAGE Study NC_000008.11 - 18400769 Jul 13, 2019 (153)
47 Qatari NC_000008.10 - 18258279 Apr 26, 2020 (154)
48 SGDP_PRJ NC_000008.10 - 18258279 Apr 26, 2020 (154)
49 TopMed NC_000008.11 - 18400769 Oct 12, 2018 (152)
50 dbGaP Population Frequency Project NC_000008.11 - 18400769 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
40947104, 9201291, 111847207, 808500, 10587749, 21421998, ss334725017, ss342253622, ss490960729, ss491410770, ss535178927, ss780867834, ss783552765, ss1328853922, ss1689107932, ss1752722195, ss1917826213, ss1928545819, ss1946231121, ss1959092417, ss2470822172, ss2634717914, ss2737016783, ss2748005971, ss2863932629, ss2985432623, ss3022824463, ss3029637980, ss3630009736, ss3630009737, ss3635161293, ss3640868583, ss3644964295, ss3653365293, ss3654194414, ss3744577641, ss3745461083, ss3772953681, ss3824350642, ss3869405018 NC_000008.10:18258278:A:G NC_000008.11:18400768:A:G (self)
648966, 384382920, 723008067, ss2301164575, ss3555514797, ss3726518844, ss3771427497 NC_000008.11:18400768:A:G NC_000008.11:18400768:A:G (self)
ss76869175 NT_167187.1:6116424:A:G NC_000008.11:18400768:A:G (self)
ss2737016783 NC_000008.10:18258278:A:T NC_000008.11:18400768: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.

No publications for rs55700793

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.post474+eacaa5c