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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.

rs55793712

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222931 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (1/125568, TOPMED)
C=0.0007 (2/2922, KOREAN)
C=0.0000 (0/2188, ALFA Project) (+ 1 more)
C=0.0005 (1/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : 3 Prime UTR Variant
Publications
3 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.18222931A>C
GRCh38.p12 chr 8 NC_000008.11:g.18222931A>G
GRCh38.p12 chr 8 NC_000008.11:g.18222931A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080440A>C
GRCh37.p13 chr 8 NC_000008.10:g.18080440A>G
GRCh37.p13 chr 8 NC_000008.10:g.18080440A>T
NAT1 RefSeqGene NG_012245.2:g.57470A>C
NAT1 RefSeqGene NG_012245.2:g.57470A>G
NAT1 RefSeqGene NG_012245.2:g.57470A>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 4 NM_001160173.3:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 5 NM_000662.8:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 1 NM_001160170.4:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 8 NM_001160176.4:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 10 NM_001291962.2:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 9 NM_001160179.3:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 2 NM_001160171.4:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 7 NM_001160175.4:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant 3 NM_001160172.4:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant X2 XM_011544687.1:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant X1 XM_011544688.1:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant X3 XM_017013947.1:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant X4 XM_006716410.3:c.*11= N/A 3 Prime UTR Variant
NAT1 transcript variant X5 XM_011544689.2:c.*11= N/A 3 Prime UTR 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 88858 A=0.99999 C=0.00000, G=0.00001
European Sub 77906 A=1.00000 C=0.00000, G=0.00000
African Sub 4040 A=1.0000 C=0.0000, G=0.0000
African Others Sub 174 A=1.000 C=0.000, G=0.000
African American Sub 3866 A=1.0000 C=0.0000, G=0.0000
Asian Sub 3558 A=0.9997 C=0.0000, G=0.0003
East Asian Sub 2900 A=0.9997 C=0.0000, G=0.0003
Other Asian Sub 658 A=1.000 C=0.000, G=0.000
Latin American 1 Sub 468 A=1.000 C=0.000, G=0.000
Latin American 2 Sub 1098 A=1.0000 C=0.0000, G=0.0000
South Asian Sub 292 A=1.000 C=0.000, G=0.000
Other Sub 1496 A=1.0000 C=0.0000, 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=0.999992 C=0.000008
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9993 C=0.0007
ALFA Total Global 2188 A=1.0000 C=0.0000
ALFA European Sub 2072 A=1.0000 C=0.0000
ALFA African Sub 82 A=1.00 C=0.00
ALFA Other Sub 26 A=1.00 C=0.00
ALFA South Asian Sub 4 A=1.0 C=0.0
ALFA Asian Sub 4 A=1.0 C=0.0
ALFA Latin American 1 Sub 0 A=0 C=0
ALFA Latin American 2 Sub 0 A=0 C=0
Korean Genome Project KOREAN Study-wide 1832 A=0.9995 C=0.0005
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= C G T
GRCh38.p12 chr 8 NC_000008.11:g.18222931= NC_000008.11:g.18222931A>C NC_000008.11:g.18222931A>G NC_000008.11:g.18222931A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080440= NC_000008.10:g.18080440A>C NC_000008.10:g.18080440A>G NC_000008.10:g.18080440A>T
NAT1 RefSeqGene NG_012245.2:g.57470= NG_012245.2:g.57470A>C NG_012245.2:g.57470A>G NG_012245.2:g.57470A>T
NAT1 transcript variant 5 NM_000662.8:c.*11= NM_000662.8:c.*11A>C NM_000662.8:c.*11A>G NM_000662.8:c.*11A>T
NAT1 transcript variant 5 NM_000662.7:c.*11= NM_000662.7:c.*11A>C NM_000662.7:c.*11A>G NM_000662.7:c.*11A>T
NAT1 transcript variant 5 NM_000662.5:c.*11= NM_000662.5:c.*11A>C NM_000662.5:c.*11A>G NM_000662.5:c.*11A>T
NAT1 transcript variant 1 NM_001160170.4:c.*11= NM_001160170.4:c.*11A>C NM_001160170.4:c.*11A>G NM_001160170.4:c.*11A>T
NAT1 transcript variant 1 NM_001160170.3:c.*11= NM_001160170.3:c.*11A>C NM_001160170.3:c.*11A>G NM_001160170.3:c.*11A>T
NAT1 transcript variant 1 NM_001160170.1:c.*11= NM_001160170.1:c.*11A>C NM_001160170.1:c.*11A>G NM_001160170.1:c.*11A>T
NAT1 transcript variant 2 NM_001160171.4:c.*11= NM_001160171.4:c.*11A>C NM_001160171.4:c.*11A>G NM_001160171.4:c.*11A>T
NAT1 transcript variant 2 NM_001160171.3:c.*11= NM_001160171.3:c.*11A>C NM_001160171.3:c.*11A>G NM_001160171.3:c.*11A>T
NAT1 transcript variant 2 NM_001160171.1:c.*11= NM_001160171.1:c.*11A>C NM_001160171.1:c.*11A>G NM_001160171.1:c.*11A>T
NAT1 transcript variant 3 NM_001160172.4:c.*11= NM_001160172.4:c.*11A>C NM_001160172.4:c.*11A>G NM_001160172.4:c.*11A>T
NAT1 transcript variant 3 NM_001160172.3:c.*11= NM_001160172.3:c.*11A>C NM_001160172.3:c.*11A>G NM_001160172.3:c.*11A>T
NAT1 transcript variant 3 NM_001160172.1:c.*11= NM_001160172.1:c.*11A>C NM_001160172.1:c.*11A>G NM_001160172.1:c.*11A>T
NAT1 transcript variant 7 NM_001160175.4:c.*11= NM_001160175.4:c.*11A>C NM_001160175.4:c.*11A>G NM_001160175.4:c.*11A>T
NAT1 transcript variant 7 NM_001160175.3:c.*11= NM_001160175.3:c.*11A>C NM_001160175.3:c.*11A>G NM_001160175.3:c.*11A>T
NAT1 transcript variant 7 NM_001160175.1:c.*11= NM_001160175.1:c.*11A>C NM_001160175.1:c.*11A>G NM_001160175.1:c.*11A>T
NAT1 transcript variant 8 NM_001160176.4:c.*11= NM_001160176.4:c.*11A>C NM_001160176.4:c.*11A>G NM_001160176.4:c.*11A>T
NAT1 transcript variant 8 NM_001160176.3:c.*11= NM_001160176.3:c.*11A>C NM_001160176.3:c.*11A>G NM_001160176.3:c.*11A>T
NAT1 transcript variant 8 NM_001160176.1:c.*11= NM_001160176.1:c.*11A>C NM_001160176.1:c.*11A>G NM_001160176.1:c.*11A>T
NAT1 transcript variant 9 NM_001160179.3:c.*11= NM_001160179.3:c.*11A>C NM_001160179.3:c.*11A>G NM_001160179.3:c.*11A>T
NAT1 transcript variant 9 NM_001160179.2:c.*11= NM_001160179.2:c.*11A>C NM_001160179.2:c.*11A>G NM_001160179.2:c.*11A>T
NAT1 transcript variant 9 NM_001160179.1:c.*11= NM_001160179.1:c.*11A>C NM_001160179.1:c.*11A>G NM_001160179.1:c.*11A>T
NAT1 transcript variant 4 NM_001160173.3:c.*11= NM_001160173.3:c.*11A>C NM_001160173.3:c.*11A>G NM_001160173.3:c.*11A>T
NAT1 transcript variant 4 NM_001160173.1:c.*11= NM_001160173.1:c.*11A>C NM_001160173.1:c.*11A>G NM_001160173.1:c.*11A>T
NAT1 transcript variant 10 NM_001291962.2:c.*11= NM_001291962.2:c.*11A>C NM_001291962.2:c.*11A>G NM_001291962.2:c.*11A>T
NAT1 transcript variant 10 NM_001291962.1:c.*11= NM_001291962.1:c.*11A>C NM_001291962.1:c.*11A>G NM_001291962.1:c.*11A>T
NAT1 transcript variant 6 NM_001160174.2:c.*11= NM_001160174.2:c.*11A>C NM_001160174.2:c.*11A>G NM_001160174.2:c.*11A>T
NAT1 transcript variant 6 NM_001160174.1:c.*11= NM_001160174.1:c.*11A>C NM_001160174.1:c.*11A>G NM_001160174.1:c.*11A>T
NAT1 transcript variant X4 XM_006716410.3:c.*11= XM_006716410.3:c.*11A>C XM_006716410.3:c.*11A>G XM_006716410.3:c.*11A>T
NAT1 transcript variant X5 XM_011544689.2:c.*11= XM_011544689.2:c.*11A>C XM_011544689.2:c.*11A>G XM_011544689.2:c.*11A>T
NAT1 transcript variant X3 XM_017013947.1:c.*11= XM_017013947.1:c.*11A>C XM_017013947.1:c.*11A>G XM_017013947.1:c.*11A>T
NAT1 transcript variant X2 XM_011544687.1:c.*11= XM_011544687.1:c.*11A>C XM_011544687.1:c.*11A>G XM_011544687.1:c.*11A>T
NAT1 transcript variant X1 XM_011544688.1:c.*11= XM_011544688.1:c.*11A>C XM_011544688.1:c.*11A>G XM_011544688.1:c.*11A>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#.

19 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss75230094 Dec 06, 2007 (129)
2 AFFY_DM3_1 ss105434759 Feb 06, 2009 (130)
3 ILLUMINA ss161079176 Dec 01, 2009 (131)
4 ILLUMINA ss169136283 Jul 04, 2010 (132)
5 BUSHMAN ss198864636 Jul 04, 2010 (132)
6 ILLUMINA ss483025684 Sep 08, 2015 (146)
7 ILLUMINA ss537652774 Sep 08, 2015 (146)
8 EVA_EXAC ss1689107751 Apr 01, 2015 (144)
9 EVA_EXAC ss1689107752 Apr 01, 2015 (144)
10 HUMAN_LONGEVITY ss2301150697 Dec 20, 2016 (150)
11 ILLUMINA ss2634717611 Nov 08, 2017 (151)
12 GNOMAD ss2737016531 Nov 08, 2017 (151)
13 TOPMED ss3555475203 Nov 08, 2017 (151)
14 ILLUMINA ss3630009307 Oct 12, 2018 (152)
15 ILLUMINA ss3636897924 Oct 12, 2018 (152)
16 ILLUMINA ss3638747173 Oct 12, 2018 (152)
17 ILLUMINA ss3643679063 Oct 12, 2018 (152)
18 KRGDB ss3916826291 Apr 26, 2020 (154)
19 KOGIC ss3963372449 Apr 26, 2020 (154)
20 ExAC

Submission ignored due to conflicting rows:
Row 9201103 (NC_000008.10:18080439:A:A 104519/104520, NC_000008.10:18080439:A:C 1/104520)
Row 9201104 (NC_000008.10:18080439:A:A 104519/104520, NC_000008.10:18080439:A:G 1/104520)

- Oct 12, 2018 (152)
21 ExAC

Submission ignored due to conflicting rows:
Row 9201103 (NC_000008.10:18080439:A:A 104519/104520, NC_000008.10:18080439:A:C 1/104520)
Row 9201104 (NC_000008.10:18080439:A:A 104519/104520, NC_000008.10:18080439:A:G 1/104520)

- Oct 12, 2018 (152)
22 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184451 (NC_000008.10:18080439:A:A 179235/179238, NC_000008.10:18080439:A:C 3/179238)
Row 6184452 (NC_000008.10:18080439:A:A 179237/179238, NC_000008.10:18080439:A:G 1/179238)

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

Submission ignored due to conflicting rows:
Row 6184451 (NC_000008.10:18080439:A:A 179235/179238, NC_000008.10:18080439:A:C 3/179238)
Row 6184452 (NC_000008.10:18080439:A:A 179237/179238, NC_000008.10:18080439:A:G 1/179238)

- Jul 13, 2019 (153)
24 KOREAN population from KRGDB NC_000008.10 - 18080440 Apr 26, 2020 (154)
25 Korean Genome Project NC_000008.11 - 18222931 Apr 26, 2020 (154)
26 TopMed NC_000008.11 - 18222931 Oct 12, 2018 (152)
27 dbGaP Population Frequency Project NC_000008.11 - 18222931 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
24003685, ss1689107752, ss2737016531, ss3916826291 NC_000008.10:18080439:A:C NC_000008.11:18222930:A:C (self)
19750450, 384349585, 789001131, ss2301150697, ss3555475203, ss3963372449 NC_000008.11:18222930:A:C NC_000008.11:18222930:A:C (self)
ss3643679063 NC_000008.9:18124719:A:G NC_000008.11:18222930:A:G (self)
ss483025684, ss537652774, ss1689107751, ss2634717611, ss2737016531, ss3630009307, ss3636897924, ss3638747173 NC_000008.10:18080439:A:G NC_000008.11:18222930:A:G (self)
ss75230094, ss105434759, ss161079176, ss169136283 NT_167187.1:5938585:A:G NC_000008.11:18222930:A:G (self)
ss198864636 NC_000008.9:18124719:A:T NC_000008.11:18222930: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.

3 citations for rs55793712
PMID Title Author Year Journal
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
26785747 Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. Iskakova AN et al. 2016 BMC genetics
29681089 Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. Padula AM et al. 2018 American journal of medical genetics. Part A
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