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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.

rs72554617

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400502 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (1/125568, TOPMED)
A=0.00008 (7/90268, ALFA Project)
A=0.00010 (8/78700, PAGE_STUDY) (+ 8 more)
A=0.00016 (5/31386, GnomAD)
A=0.0002 (1/5008, 1000G)
A=0.0004 (2/4480, Estonian)
A=0.0014 (4/2922, KOREAN)
A=0.0011 (2/1832, Korea1K)
A=0.003 (1/304, FINRISK)
G=0.5 (1/2, SGDP_PRJ)
A=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.18400502G>A
GRCh38.p12 chr 8 NC_000008.11:g.18400502G>C
GRCh37.p13 chr 8 NC_000008.10:g.18258012G>A
GRCh37.p13 chr 8 NC_000008.10:g.18258012G>C
NAT2 RefSeqGene NG_012246.1:g.14258G>A
NAT2 RefSeqGene NG_012246.1:g.14258G>C
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.499G>A E [GAG] > K [AAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu167Lys E (Glu) > K (Lys) Missense Variant
NAT2 transcript NM_000015.3:c.499G>C E [GAG] > Q [CAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu167Gln E (Glu) > Q (Gln) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.499G>A E [GAG] > K [AAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu167Lys E (Glu) > K (Lys) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.499G>C E [GAG] > Q [CAG] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu167Gln E (Glu) > Q (Gln) 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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 90268 G=0.99992 A=0.00008, C=0.00000
European Sub 81068 G=0.99994 A=0.00006, C=0.00000
African Sub 844 G=1.000 A=0.000, C=0.000
African Others Sub 16 G=1.00 A=0.00, C=0.00
African American Sub 828 G=1.000 A=0.000, C=0.000
Asian Sub 170 G=0.994 A=0.006, C=0.000
East Asian Sub 112 G=0.991 A=0.009, C=0.000
Other Asian Sub 58 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 6 G=1.0 A=0.0, C=0.0
Latin American 2 Sub 22 G=1.00 A=0.00, C=0.00
South Asian Sub 14 G=1.00 A=0.00, C=0.00
Other Sub 8144 G=0.9999 A=0.0001, C=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 G=0.999992 C=0.000008
ALFA Total Global 90268 G=0.99992 A=0.00008, C=0.00000
ALFA European Sub 81068 G=0.99994 A=0.00006, C=0.00000
ALFA Other Sub 8144 G=0.9999 A=0.0001, C=0.0000
ALFA African Sub 844 G=1.000 A=0.000, C=0.000
ALFA Asian Sub 170 G=0.994 A=0.006, C=0.000
ALFA Latin American 2 Sub 22 G=1.00 A=0.00, C=0.00
ALFA South Asian Sub 14 G=1.00 A=0.00, C=0.00
ALFA Latin American 1 Sub 6 G=1.0 A=0.0, C=0.0
The PAGE Study Global Study-wide 78700 G=0.99990 A=0.00010
The PAGE Study AfricanAmerican Sub 32514 G=1.00000 A=0.00000
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=0.9992 A=0.0008
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=0.9998 A=0.0002
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 A=0.000
gnomAD - Genomes Global Study-wide 31386 G=0.99984 A=0.00016
gnomAD - Genomes European Sub 18898 G=0.99979 A=0.00021
gnomAD - Genomes African Sub 8710 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 1556 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 1084 G=0.9991 A=0.0009
gnomAD - Genomes American Sub 848 G=1.000 A=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9996 A=0.0004
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9986 A=0.0014
Korean Genome Project KOREAN Study-wide 1832 G=0.9989 A=0.0011
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
SGDP_PRJ Global Study-wide 2 G=0.5 A=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 G= A C
GRCh38.p12 chr 8 NC_000008.11:g.18400502= NC_000008.11:g.18400502G>A NC_000008.11:g.18400502G>C
GRCh37.p13 chr 8 NC_000008.10:g.18258012= NC_000008.10:g.18258012G>A NC_000008.10:g.18258012G>C
NAT2 RefSeqGene NG_012246.1:g.14258= NG_012246.1:g.14258G>A NG_012246.1:g.14258G>C
NAT2 transcript NM_000015.3:c.499= NM_000015.3:c.499G>A NM_000015.3:c.499G>C
NAT2 transcript NM_000015.2:c.499= NM_000015.2:c.499G>A NM_000015.2:c.499G>C
NAT2 transcript variant X1 XM_017012938.1:c.499= XM_017012938.1:c.499G>A XM_017012938.1:c.499G>C
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu167= NP_000006.2:p.Glu167Lys NP_000006.2:p.Glu167Gln
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu167= XP_016868427.1:p.Glu167Lys XP_016868427.1:p.Glu167Gln
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#.

41 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 AFFY_DM3_1 ss105434765 Feb 13, 2009 (130)
2 1000GENOMES ss488883405 May 04, 2012 (137)
3 EXOME_CHIP ss491410761 May 04, 2012 (137)
4 ILLUMINA ss780867825 Sep 08, 2015 (146)
5 ILLUMINA ss783552756 Sep 08, 2015 (146)
6 JMKIDD_LAB ss1067495864 Aug 21, 2014 (142)
7 JMKIDD_LAB ss1075326286 Aug 21, 2014 (142)
8 1000GENOMES ss1328853906 Aug 21, 2014 (142)
9 EVA_FINRISK ss1584057289 Apr 01, 2015 (144)
10 EVA_EXAC ss1689107871 Apr 01, 2015 (144)
11 EVA_EXAC ss1689107872 Apr 01, 2015 (144)
12 ILLUMINA ss1752722188 Sep 08, 2015 (146)
13 ILLUMINA ss1917826207 Feb 12, 2016 (147)
14 ILLUMINA ss1946231111 Feb 12, 2016 (147)
15 ILLUMINA ss1959092405 Feb 12, 2016 (147)
16 SYSTEMSBIOZJU ss2626970489 Nov 08, 2017 (151)
17 ILLUMINA ss2711131674 Nov 08, 2017 (151)
18 GNOMAD ss2737016705 Nov 08, 2017 (151)
19 GNOMAD ss2748005940 Nov 08, 2017 (151)
20 GNOMAD ss2863932598 Nov 08, 2017 (151)
21 AFFY ss2985432615 Nov 08, 2017 (151)
22 AFFY ss2986074658 Nov 08, 2017 (151)
23 ILLUMINA ss3022824455 Nov 08, 2017 (151)
24 TOPMED ss3555514745 Nov 08, 2017 (151)
25 TOPMED ss3555514746 Nov 08, 2017 (151)
26 ILLUMINA ss3630009723 Oct 12, 2018 (152)
27 ILLUMINA ss3635161284 Oct 12, 2018 (152)
28 ILLUMINA ss3640868574 Oct 12, 2018 (152)
29 ILLUMINA ss3644964285 Oct 12, 2018 (152)
30 ILLUMINA ss3653365285 Oct 12, 2018 (152)
31 ILLUMINA ss3654194406 Oct 12, 2018 (152)
32 EGCUT_WGS ss3670459162 Jul 13, 2019 (153)
33 ILLUMINA ss3726518837 Jul 13, 2019 (153)
34 ILLUMINA ss3744577635 Jul 13, 2019 (153)
35 ILLUMINA ss3745461074 Jul 13, 2019 (153)
36 EVA ss3767698256 Jul 13, 2019 (153)
37 PAGE_CC ss3771427488 Jul 13, 2019 (153)
38 ILLUMINA ss3772953674 Jul 13, 2019 (153)
39 SGDP_PRJ ss3869405011 Apr 26, 2020 (154)
40 KRGDB ss3916829882 Apr 26, 2020 (154)
41 KOGIC ss3963375450 Apr 26, 2020 (154)
42 1000Genomes NC_000008.10 - 18258012 Oct 12, 2018 (152)
43 Genetic variation in the Estonian population NC_000008.10 - 18258012 Oct 12, 2018 (152)
44 ExAC

Submission ignored due to conflicting rows:
Row 9201229 (NC_000008.10:18258011:G:G 120871/120888, NC_000008.10:18258011:G:A 17/120888)
Row 9201230 (NC_000008.10:18258011:G:G 120887/120888, NC_000008.10:18258011:G:C 1/120888)

- Oct 12, 2018 (152)
45 ExAC

Submission ignored due to conflicting rows:
Row 9201229 (NC_000008.10:18258011:G:G 120871/120888, NC_000008.10:18258011:G:A 17/120888)
Row 9201230 (NC_000008.10:18258011:G:G 120887/120888, NC_000008.10:18258011:G:C 1/120888)

- Oct 12, 2018 (152)
46 FINRISK NC_000008.10 - 18258012 Apr 26, 2020 (154)
47 gnomAD - Genomes NC_000008.10 - 18258012 Jul 13, 2019 (153)
48 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184642 (NC_000008.10:18258011:G:G 250559/250596, NC_000008.10:18258011:G:A 37/250596)
Row 6184643 (NC_000008.10:18258011:G:G 250593/250596, NC_000008.10:18258011:G:C 3/250596)

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

Submission ignored due to conflicting rows:
Row 6184642 (NC_000008.10:18258011:G:G 250559/250596, NC_000008.10:18258011:G:A 37/250596)
Row 6184643 (NC_000008.10:18258011:G:G 250593/250596, NC_000008.10:18258011:G:C 3/250596)

- Jul 13, 2019 (153)
50 KOREAN population from KRGDB NC_000008.10 - 18258012 Apr 26, 2020 (154)
51 Korean Genome Project NC_000008.11 - 18400502 Apr 26, 2020 (154)
52 The PAGE Study NC_000008.11 - 18400502 Jul 13, 2019 (153)
53 SGDP_PRJ NC_000008.10 - 18258012 Apr 26, 2020 (154)
54 TopMed NC_000008.11 - 18400502 Oct 12, 2018 (152)
55 dbGaP Population Frequency Project NC_000008.11 - 18400502 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
40947088, 16197410, 53750, 111847176, 24007276, 21421991, ss488883405, ss491410761, ss780867825, ss783552756, ss1067495864, ss1075326286, ss1328853906, ss1584057289, ss1689107871, ss1752722188, ss1917826207, ss1946231111, ss1959092405, ss2626970489, ss2711131674, ss2737016705, ss2748005940, ss2863932598, ss2985432615, ss2986074658, ss3022824455, ss3630009723, ss3635161284, ss3640868574, ss3644964285, ss3653365285, ss3654194406, ss3670459162, ss3744577635, ss3745461074, ss3767698256, ss3772953674, ss3869405011, ss3916829882 NC_000008.10:18258011:G:A NC_000008.11:18400501:G:A (self)
19753451, 648957, 200046055, ss3555514745, ss3726518837, ss3771427488, ss3963375450 NC_000008.11:18400501:G:A NC_000008.11:18400501:G:A (self)
ss105434765 NT_167187.1:6116157:G:A NC_000008.11:18400501:G:A (self)
ss1689107872, ss2737016705 NC_000008.10:18258011:G:C NC_000008.11:18400501:G:C (self)
384382877, 200046055, ss3555514746 NC_000008.11:18400501:G:C NC_000008.11:18400501:G:C (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 rs72554617

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.post502+8584b1c