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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.

rs72554609

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222660 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000060 (15/250748, GnomAD_exome)
G=0.000040 (5/125568, TOPMED)
G=0.000025 (3/121210, ExAC) (+ 3 more)
G=0.00003 (1/31408, GnomAD)
G=0.00008 (1/13006, GO-ESP)
G=0.00036 (4/11174, ALFA Project)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : 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.18222660A>G
GRCh37.p13 chr 8 NC_000008.10:g.18080169A>G
NAT1 RefSeqGene NG_012245.2:g.57199A>G
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.799A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Met267Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Met205Val M (Met) > V (Val) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.613A>G M [ATG] > V [GTG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Met205Val M (Met) > V (Val) 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 60772 A=0.99987 G=0.00013
European Sub 48732 A=0.99986 G=0.00014
African Sub 3512 A=1.0000 G=0.0000
African Others Sub 122 A=1.000 G=0.000
African American Sub 3390 A=1.0000 G=0.0000
Asian Sub 212 A=1.000 G=0.000
East Asian Sub 156 A=1.000 G=0.000
Other Asian Sub 56 A=1.00 G=0.00
Latin American 1 Sub 500 A=1.000 G=0.000
Latin American 2 Sub 628 A=1.000 G=0.000
South Asian Sub 98 A=1.00 G=0.00
Other Sub 7090 A=0.9999 G=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 250748 A=0.999940 G=0.000060
gnomAD - Exomes European Sub 135008 A=0.999985 G=0.000015
gnomAD - Exomes Asian Sub 48896 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34474 A=1.00000 G=0.00000
gnomAD - Exomes African Sub 16244 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10032 A=0.99870 G=0.00130
gnomAD - Exomes Other Sub 6094 A=1.0000 G=0.0000
TopMed Global Study-wide 125568 A=0.999960 G=0.000040
ExAC Global Study-wide 121210 A=0.999975 G=0.000025
ExAC Europe Sub 73258 A=0.99996 G=0.00004
ExAC Asian Sub 25118 A=1.00000 G=0.00000
ExAC American Sub 11544 A=1.00000 G=0.00000
ExAC African Sub 10384 A=1.00000 G=0.00000
ExAC Other Sub 906 A=1.000 G=0.000
gnomAD - Genomes Global Study-wide 31408 A=0.99997 G=0.00003
gnomAD - Genomes European Sub 18906 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 8718 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 1558 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=0.997 G=0.003
GO Exome Sequencing Project Global Study-wide 13006 A=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8600 A=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 A=1.0000 G=0.0000
ALFA Total Global 11174 A=0.99964 G=0.00036
ALFA European Sub 8134 A=0.9996 G=0.0004
ALFA Other Sub 2300 A=0.9996 G=0.0004
ALFA African Sub 676 A=1.000 G=0.000
ALFA Asian Sub 60 A=1.00 G=0.00
ALFA South Asian Sub 4 A=1.0 G=0.0
ALFA Latin American 1 Sub 0 A=0 G=0
ALFA Latin American 2 Sub 0 A=0 G=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 A= G
GRCh38.p12 chr 8 NC_000008.11:g.18222660= NC_000008.11:g.18222660A>G
GRCh37.p13 chr 8 NC_000008.10:g.18080169= NC_000008.10:g.18080169A>G
NAT1 RefSeqGene NG_012245.2:g.57199= NG_012245.2:g.57199A>G
NAT1 transcript variant 5 NM_000662.8:c.613= NM_000662.8:c.613A>G
NAT1 transcript variant 5 NM_000662.7:c.613= NM_000662.7:c.613A>G
NAT1 transcript variant 5 NM_000662.5:c.613= NM_000662.5:c.613A>G
NAT1 transcript variant 1 NM_001160170.4:c.613= NM_001160170.4:c.613A>G
NAT1 transcript variant 1 NM_001160170.3:c.613= NM_001160170.3:c.613A>G
NAT1 transcript variant 1 NM_001160170.1:c.613= NM_001160170.1:c.613A>G
NAT1 transcript variant 2 NM_001160171.4:c.613= NM_001160171.4:c.613A>G
NAT1 transcript variant 2 NM_001160171.3:c.613= NM_001160171.3:c.613A>G
NAT1 transcript variant 2 NM_001160171.1:c.613= NM_001160171.1:c.613A>G
NAT1 transcript variant 3 NM_001160172.4:c.613= NM_001160172.4:c.613A>G
NAT1 transcript variant 3 NM_001160172.3:c.613= NM_001160172.3:c.613A>G
NAT1 transcript variant 3 NM_001160172.1:c.613= NM_001160172.1:c.613A>G
NAT1 transcript variant 7 NM_001160175.4:c.799= NM_001160175.4:c.799A>G
NAT1 transcript variant 7 NM_001160175.3:c.799= NM_001160175.3:c.799A>G
NAT1 transcript variant 7 NM_001160175.1:c.799= NM_001160175.1:c.799A>G
NAT1 transcript variant 8 NM_001160176.4:c.799= NM_001160176.4:c.799A>G
NAT1 transcript variant 8 NM_001160176.3:c.799= NM_001160176.3:c.799A>G
NAT1 transcript variant 8 NM_001160176.1:c.799= NM_001160176.1:c.799A>G
NAT1 transcript variant 9 NM_001160179.3:c.613= NM_001160179.3:c.613A>G
NAT1 transcript variant 9 NM_001160179.2:c.613= NM_001160179.2:c.613A>G
NAT1 transcript variant 9 NM_001160179.1:c.613= NM_001160179.1:c.613A>G
NAT1 transcript variant 4 NM_001160173.3:c.613= NM_001160173.3:c.613A>G
NAT1 transcript variant 4 NM_001160173.1:c.613= NM_001160173.1:c.613A>G
NAT1 transcript variant 10 NM_001291962.2:c.799= NM_001291962.2:c.799A>G
NAT1 transcript variant 10 NM_001291962.1:c.799= NM_001291962.1:c.799A>G
NAT1 transcript variant 6 NM_001160174.2:c.613= NM_001160174.2:c.613A>G
NAT1 transcript variant 6 NM_001160174.1:c.613= NM_001160174.1:c.613A>G
NAT1 transcript variant X4 XM_006716410.3:c.613= XM_006716410.3:c.613A>G
NAT1 transcript variant X5 XM_011544689.2:c.613= XM_011544689.2:c.613A>G
NAT1 transcript variant X3 XM_017013947.1:c.799= XM_017013947.1:c.799A>G
NAT1 transcript variant X2 XM_011544687.1:c.799= XM_011544687.1:c.799A>G
NAT1 transcript variant X1 XM_011544688.1:c.799= XM_011544688.1:c.799A>G
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Met205= NP_000653.3:p.Met205Val
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Met205= NP_001153642.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Met205= NP_001153643.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Met205= NP_001153644.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Met267= NP_001153647.1:p.Met267Val
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Met267= NP_001153648.1:p.Met267Val
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Met205= NP_001153651.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Met205= NP_001153645.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Met267= NP_001278891.1:p.Met267Val
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Met205= NP_001153646.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Met205= XP_006716473.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Met205= XP_011542991.1:p.Met205Val
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Met267= XP_016869436.1:p.Met267Val
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Met267= XP_011542989.1:p.Met267Val
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Met267= XP_011542990.1:p.Met267Val
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#.

11 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 AFFY_DM3_1 ss105434755 Feb 13, 2009 (130)
2 TISHKOFF ss560587248 Apr 25, 2013 (138)
3 NHLBI-ESP ss712827957 Apr 25, 2013 (138)
4 EVA_EXAC ss1689107697 Apr 01, 2015 (144)
5 HUMAN_LONGEVITY ss2301150678 Dec 20, 2016 (150)
6 ILLUMINA ss2711131559 Nov 08, 2017 (151)
7 GNOMAD ss2737016459 Nov 08, 2017 (151)
8 GNOMAD ss2748005870 Nov 08, 2017 (151)
9 GNOMAD ss2863915045 Nov 08, 2017 (151)
10 TOPMED ss3555475149 Nov 08, 2017 (151)
11 EVA ss3824350595 Apr 26, 2020 (154)
12 ExAC NC_000008.10 - 18080169 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000008.10 - 18080169 Jul 13, 2019 (153)
14 gnomAD - Exomes NC_000008.10 - 18080169 Jul 13, 2019 (153)
15 GO Exome Sequencing Project NC_000008.10 - 18080169 Oct 12, 2018 (152)
16 TopMed NC_000008.11 - 18222660 Oct 12, 2018 (152)
17 dbGaP Population Frequency Project NC_000008.11 - 18222660 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
9201043, 111829292, 6184371, 808455, ss560587248, ss712827957, ss1689107697, ss2711131559, ss2737016459, ss2748005870, ss2863915045, ss3824350595 NC_000008.10:18080168:A:G NC_000008.11:18222659:A:G (self)
384349540, 58168292, ss2301150678, ss3555475149 NC_000008.11:18222659:A:G NC_000008.11:18222659:A:G (self)
ss105434755 NT_167187.1:5938314:A:G NC_000008.11:18222659:A:G (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 rs72554609

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