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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.

rs56011192

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400762 (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 (9/250020, GnomAD_exome)
T=0.000025 (3/120410, ExAC)
T=0.00001 (1/78624, PAGE_STUDY) (+ 2 more)
T=0.00012 (4/33032, ALFA Project)
T=0.00003 (1/31390, GnomAD)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT2 : Synonymous 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.18400762C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258272C>T
NAT2 RefSeqGene NG_012246.1:g.14518C>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.759C>T V [GTC] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Val253= V (Val) > V (Val) Synonymous Variant
NAT2 transcript variant X1 XM_017012938.1:c.759C>T V [GTC] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Val253= V (Val) > V (Val) Synonymous 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 116242 C=0.999699 T=0.000301
European Sub 102706 C=0.999698 T=0.000302
African Sub 4164 C=1.0000 T=0.0000
African Others Sub 144 C=1.000 T=0.000
African American Sub 4020 C=1.0000 T=0.0000
Asian Sub 3380 C=0.9994 T=0.0006
East Asian Sub 2728 C=0.9993 T=0.0007
Other Asian Sub 652 C=1.000 T=0.000
Latin American 1 Sub 430 C=0.998 T=0.002
Latin American 2 Sub 926 C=1.000 T=0.000
South Asian Sub 274 C=1.000 T=0.000
Other Sub 4362 C=0.9998 T=0.0002


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").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250020 C=0.999964 T=0.000036
gnomAD - Exomes European Sub 134430 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 48934 C=0.99994 T=0.00006
gnomAD - Exomes American Sub 34442 C=0.99991 T=0.00009
gnomAD - Exomes African Sub 16076 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10052 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6086 C=1.0000 T=0.0000
ExAC Global Study-wide 120410 C=0.999975 T=0.000025
ExAC Europe Sub 72874 C=0.99999 T=0.00001
ExAC Asian Sub 25102 C=0.99996 T=0.00004
ExAC American Sub 11468 C=0.99991 T=0.00009
ExAC African Sub 10066 C=1.00000 T=0.00000
ExAC Other Sub 900 C=1.000 T=0.000
The PAGE Study Global Study-wide 78624 C=0.99999 T=0.00001
The PAGE Study AfricanAmerican Sub 32474 C=0.99997 T=0.00003
The PAGE Study Mexican Sub 10806 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8310 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7914 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4524 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4226 C=1.0000 T=0.0000
The PAGE Study Dominican Sub 3822 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
ALFA Total Global 33032 C=0.99988 T=0.00012
ALFA European Sub 29472 C=0.99986 T=0.00014
ALFA Other Sub 2806 C=1.0000 T=0.0000
ALFA African Sub 658 C=1.000 T=0.000
ALFA Asian Sub 90 C=1.00 T=0.00
ALFA South Asian Sub 6 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
gnomAD - Genomes Global Study-wide 31390 C=0.99997 T=0.00003
gnomAD - Genomes European Sub 18898 C=0.99995 T=0.00005
gnomAD - Genomes African Sub 8708 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 848 C=1.000 T=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=1.000 T=0.000
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.18400762= NC_000008.11:g.18400762C>T
GRCh37.p13 chr 8 NC_000008.10:g.18258272= NC_000008.10:g.18258272C>T
NAT2 RefSeqGene NG_012246.1:g.14518= NG_012246.1:g.14518C>T
NAT2 transcript NM_000015.3:c.759= NM_000015.3:c.759C>T
NAT2 transcript NM_000015.2:c.759= NM_000015.2:c.759C>T
NAT2 transcript variant X1 XM_017012938.1:c.759= XM_017012938.1:c.759C>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Val253= NP_000006.2:p.Val253=
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Val253= XP_016868427.1:p.Val253=
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#.

28 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss75266942 Dec 06, 2007 (129)
2 AFFY_DM3_1 ss105434766 Feb 05, 2009 (130)
3 ILLUMINA ss161033458 Dec 01, 2009 (131)
4 ILLUMINA ss169135672 Jul 04, 2010 (132)
5 ILLUMINA ss483025579 Sep 08, 2015 (146)
6 ILLUMINA ss537652737 Sep 08, 2015 (146)
7 EVA_EXAC ss1689107930 Apr 01, 2015 (144)
8 ILLUMINA ss1946231120 Feb 12, 2016 (147)
9 ILLUMINA ss1959092416 Feb 12, 2016 (147)
10 ILLUMINA ss2634717913 Nov 08, 2017 (151)
11 ILLUMINA ss2711131680 Nov 08, 2017 (151)
12 GNOMAD ss2737016781 Nov 08, 2017 (151)
13 GNOMAD ss2748005970 Nov 08, 2017 (151)
14 GNOMAD ss2863932628 Nov 08, 2017 (151)
15 AFFY ss2985432622 Nov 08, 2017 (151)
16 AFFY ss2986074660 Nov 08, 2017 (151)
17 ILLUMINA ss3022824462 Nov 08, 2017 (151)
18 ILLUMINA ss3625946942 Oct 12, 2018 (152)
19 ILLUMINA ss3630009735 Oct 12, 2018 (152)
20 ILLUMINA ss3636898284 Oct 12, 2018 (152)
21 ILLUMINA ss3638747290 Oct 12, 2018 (152)
22 ILLUMINA ss3643679169 Oct 12, 2018 (152)
23 ILLUMINA ss3644964294 Oct 12, 2018 (152)
24 ILLUMINA ss3653365292 Oct 12, 2018 (152)
25 ILLUMINA ss3654194413 Oct 12, 2018 (152)
26 ILLUMINA ss3726518843 Jul 13, 2019 (153)
27 ILLUMINA ss3744302589 Jul 13, 2019 (153)
28 PAGE_CC ss3771427496 Jul 13, 2019 (153)
29 ExAC NC_000008.10 - 18258272 Oct 12, 2018 (152)
30 gnomAD - Genomes NC_000008.10 - 18258272 Jul 13, 2019 (153)
31 gnomAD - Exomes NC_000008.10 - 18258272 Jul 13, 2019 (153)
32 The PAGE Study NC_000008.11 - 18400762 Jul 13, 2019 (153)
33 dbGaP Population Frequency Project NC_000008.11 - 18400762 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
ss3643679169 NC_000008.9:18302551:C:T NC_000008.11:18400761:C:T (self)
9201289, 111847206, 6184728, ss483025579, ss537652737, ss1689107930, ss1946231120, ss1959092416, ss2634717913, ss2711131680, ss2737016781, ss2748005970, ss2863932628, ss2985432622, ss2986074660, ss3022824462, ss3625946942, ss3630009735, ss3636898284, ss3638747290, ss3644964294, ss3653365292, ss3654194413, ss3744302589 NC_000008.10:18258271:C:T NC_000008.11:18400761:C:T (self)
648965, 823643918, ss3726518843, ss3771427496 NC_000008.11:18400761:C:T NC_000008.11:18400761:C:T (self)
ss75266942, ss105434766, ss161033458, ss169135672 NT_167187.1:6116417:C:T NC_000008.11:18400761: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.

No publications for rs56011192

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