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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.

rs56318881

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222144 (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=0.000036 (9/251324, GnomAD_exome)
T=0.000024 (3/125568, TOPMED)
T=0.000041 (5/121382, ExAC) (+ 2 more)
T=0.00006 (2/31390, GnomAD)
T=0.00000 (0/21046, ALFA Project)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Stop Gained
Publications
4 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.18222144C>T
GRCh37.p13 chr 8 NC_000008.10:g.18079653C>T
NAT1 RefSeqGene NG_012245.2:g.56683C>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 4 NM_001160173.3:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 5 NM_000662.8:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 1 NM_001160170.4:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 8 NM_001160176.4:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 10 NM_001291962.2:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 9 NM_001160179.3:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 2 NM_001160171.4:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 7 NM_001160175.4:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 3 NM_001160172.4:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X2 XM_011544687.1:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X1 XM_011544688.1:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X3 XM_017013947.1:c.283C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg95Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X4 XM_006716410.3:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg33Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X5 XM_011544689.2:c.97C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg33Ter R (Arg) > * (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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 145998 C=0.999952 T=0.000048
European Sub 129388 C=0.999954 T=0.000046
African Sub 4554 C=1.0000 T=0.0000
African Others Sub 176 C=1.000 T=0.000
African American Sub 4378 C=1.0000 T=0.0000
Asian Sub 3640 C=0.9997 T=0.0003
East Asian Sub 2982 C=0.9997 T=0.0003
Other Asian Sub 658 C=1.000 T=0.000
Latin American 1 Sub 822 C=1.000 T=0.000
Latin American 2 Sub 1116 C=1.0000 T=0.0000
South Asian Sub 298 C=1.000 T=0.000
Other Sub 6180 C=1.0000 T=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
gnomAD - Exomes Global Study-wide 251324 C=0.999964 T=0.000036
gnomAD - Exomes European Sub 135276 C=0.999970 T=0.000030
gnomAD - Exomes Asian Sub 49004 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34580 C=0.99991 T=0.00009
gnomAD - Exomes African Sub 16254 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6132 C=1.0000 T=0.0000
TopMed Global Study-wide 125568 C=0.999976 T=0.000024
ExAC Global Study-wide 121382 C=0.999959 T=0.000041
ExAC Europe Sub 73342 C=0.99997 T=0.00003
ExAC Asian Sub 25164 C=0.99992 T=0.00008
ExAC American Sub 11564 C=0.99991 T=0.00009
ExAC African Sub 10404 C=1.00000 T=0.00000
ExAC Other Sub 908 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 31390 C=0.99994 T=0.00006
gnomAD - Genomes European Sub 18898 C=0.99989 T=0.00011
gnomAD - Genomes African Sub 8712 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 1560 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1086 C=1.0000 T=0.0000
gnomAD - Genomes American Sub 844 C=1.000 T=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=1.000 T=0.000
ALFA Total Global 21046 C=1.00000 T=0.00000
ALFA European Sub 20518 C=1.00000 T=0.00000
ALFA Other Sub 334 C=1.000 T=0.000
ALFA African Sub 146 C=1.000 T=0.000
ALFA Asian Sub 38 C=1.00 T=0.00
ALFA South Asian Sub 10 C=1.0 T=0.0
ALFA Latin American 1 Sub 0 C=0 T=0
ALFA Latin American 2 Sub 0 C=0 T=0
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.18222144= NC_000008.11:g.18222144C>T
GRCh37.p13 chr 8 NC_000008.10:g.18079653= NC_000008.10:g.18079653C>T
NAT1 RefSeqGene NG_012245.2:g.56683= NG_012245.2:g.56683C>T
NAT1 transcript variant 5 NM_000662.8:c.97= NM_000662.8:c.97C>T
NAT1 transcript variant 5 NM_000662.7:c.97= NM_000662.7:c.97C>T
NAT1 transcript variant 5 NM_000662.5:c.97= NM_000662.5:c.97C>T
NAT1 transcript variant 1 NM_001160170.4:c.97= NM_001160170.4:c.97C>T
NAT1 transcript variant 1 NM_001160170.3:c.97= NM_001160170.3:c.97C>T
NAT1 transcript variant 1 NM_001160170.1:c.97= NM_001160170.1:c.97C>T
NAT1 transcript variant 2 NM_001160171.4:c.97= NM_001160171.4:c.97C>T
NAT1 transcript variant 2 NM_001160171.3:c.97= NM_001160171.3:c.97C>T
NAT1 transcript variant 2 NM_001160171.1:c.97= NM_001160171.1:c.97C>T
NAT1 transcript variant 3 NM_001160172.4:c.97= NM_001160172.4:c.97C>T
NAT1 transcript variant 3 NM_001160172.3:c.97= NM_001160172.3:c.97C>T
NAT1 transcript variant 3 NM_001160172.1:c.97= NM_001160172.1:c.97C>T
NAT1 transcript variant 7 NM_001160175.4:c.283= NM_001160175.4:c.283C>T
NAT1 transcript variant 7 NM_001160175.3:c.283= NM_001160175.3:c.283C>T
NAT1 transcript variant 7 NM_001160175.1:c.283= NM_001160175.1:c.283C>T
NAT1 transcript variant 8 NM_001160176.4:c.283= NM_001160176.4:c.283C>T
NAT1 transcript variant 8 NM_001160176.3:c.283= NM_001160176.3:c.283C>T
NAT1 transcript variant 8 NM_001160176.1:c.283= NM_001160176.1:c.283C>T
NAT1 transcript variant 9 NM_001160179.3:c.97= NM_001160179.3:c.97C>T
NAT1 transcript variant 9 NM_001160179.2:c.97= NM_001160179.2:c.97C>T
NAT1 transcript variant 9 NM_001160179.1:c.97= NM_001160179.1:c.97C>T
NAT1 transcript variant 4 NM_001160173.3:c.97= NM_001160173.3:c.97C>T
NAT1 transcript variant 4 NM_001160173.1:c.97= NM_001160173.1:c.97C>T
NAT1 transcript variant 10 NM_001291962.2:c.283= NM_001291962.2:c.283C>T
NAT1 transcript variant 10 NM_001291962.1:c.283= NM_001291962.1:c.283C>T
NAT1 transcript variant 6 NM_001160174.2:c.97= NM_001160174.2:c.97C>T
NAT1 transcript variant 6 NM_001160174.1:c.97= NM_001160174.1:c.97C>T
NAT1 transcript variant X4 XM_006716410.3:c.97= XM_006716410.3:c.97C>T
NAT1 transcript variant X5 XM_011544689.2:c.97= XM_011544689.2:c.97C>T
NAT1 transcript variant X3 XM_017013947.1:c.283= XM_017013947.1:c.283C>T
NAT1 transcript variant X2 XM_011544687.1:c.283= XM_011544687.1:c.283C>T
NAT1 transcript variant X1 XM_011544688.1:c.283= XM_011544688.1:c.283C>T
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg33= NP_000653.3:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg33= NP_001153642.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg33= NP_001153643.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg33= NP_001153644.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg95= NP_001153647.1:p.Arg95Ter
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg95= NP_001153648.1:p.Arg95Ter
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg33= NP_001153651.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg33= NP_001153645.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg95= NP_001278891.1:p.Arg95Ter
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg33= NP_001153646.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg33= XP_006716473.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg33= XP_011542991.1:p.Arg33Ter
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg95= XP_016869436.1:p.Arg95Ter
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg95= XP_011542989.1:p.Arg95Ter
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg95= XP_011542990.1:p.Arg95Ter
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#.

25 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss75250842 Dec 07, 2007 (129)
2 AFFY_DM3_1 ss105434750 Feb 06, 2009 (130)
3 ILLUMINA ss161095906 Dec 01, 2009 (131)
4 ILLUMINA ss169136613 Jul 04, 2010 (132)
5 ILLUMINA ss483025744 Sep 08, 2015 (146)
6 ILLUMINA ss537652794 Sep 08, 2015 (146)
7 EVA_EXAC ss1689107584 Apr 01, 2015 (144)
8 ILLUMINA ss1946231044 Feb 12, 2016 (147)
9 ILLUMINA ss1959092235 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2301150647 Dec 20, 2016 (150)
11 ILLUMINA ss2711131550 Nov 08, 2017 (151)
12 GNOMAD ss2737016310 Nov 08, 2017 (151)
13 GNOMAD ss2748005832 Nov 08, 2017 (151)
14 GNOMAD ss2863915007 Nov 08, 2017 (151)
15 ILLUMINA ss3022824281 Nov 08, 2017 (151)
16 TOPMED ss3555475041 Nov 08, 2017 (151)
17 ILLUMINA ss3625946883 Oct 12, 2018 (152)
18 ILLUMINA ss3630009289 Oct 12, 2018 (152)
19 ILLUMINA ss3636897912 Oct 12, 2018 (152)
20 ILLUMINA ss3638747163 Oct 12, 2018 (152)
21 ILLUMINA ss3643679053 Oct 12, 2018 (152)
22 ILLUMINA ss3644964220 Oct 12, 2018 (152)
23 ILLUMINA ss3653365103 Oct 12, 2018 (152)
24 ILLUMINA ss3726518680 Jul 13, 2019 (153)
25 ILLUMINA ss3744302537 Jul 13, 2019 (153)
26 ExAC NC_000008.10 - 18079653 Oct 12, 2018 (152)
27 gnomAD - Genomes NC_000008.10 - 18079653 Jul 13, 2019 (153)
28 gnomAD - Exomes NC_000008.10 - 18079653 Jul 13, 2019 (153)
29 TopMed NC_000008.11 - 18222144 Oct 12, 2018 (152)
30 dbGaP Population Frequency Project NC_000008.11 - 18222144 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
ss3643679053 NC_000008.9:18123932:C:T NC_000008.11:18222143:C:T (self)
9200927, 111829253, 6184203, ss483025744, ss537652794, ss1689107584, ss1946231044, ss1959092235, ss2711131550, ss2737016310, ss2748005832, ss2863915007, ss3022824281, ss3625946883, ss3630009289, ss3636897912, ss3638747163, ss3644964220, ss3653365103, ss3744302537 NC_000008.10:18079652:C:T NC_000008.11:18222143:C:T (self)
384349446, 853698204, ss2301150647, ss3555475041, ss3726518680 NC_000008.11:18222143:C:T NC_000008.11:18222143:C:T (self)
ss75250842, ss105434750, ss161095906, ss169136613 NT_167187.1:5937798:C:T NC_000008.11:18222143: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.

4 citations for rs56318881
PMID Title Author Year Journal
21678399 Hair dye use and risk of bladder cancer in the New England bladder cancer study. Koutros S et al. 2011 International journal of cancer
21709725 No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent. Kidd LC et al. 2011 Biomarkers in cancer
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
27655273 Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans. Aarts JM et al. 2016 PloS one
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