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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.

rs5030839

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222606 (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=0.002409 (602/249942, GnomAD_exome)
T=0.002540 (319/125568, TOPMED)
T=0.002691 (326/121152, ExAC) (+ 12 more)
T=0.002931 (312/106434, ALFA Project)
T=0.00280 (220/78696, PAGE_STUDY)
T=0.00233 (73/31366, GnomAD)
T=0.00277 (36/13006, GO-ESP)
T=0.0028 (14/5008, 1000G)
T=0.0011 (5/4480, Estonian)
T=0.0013 (5/3854, ALSPAC)
T=0.0030 (11/3708, TWINSUK)
T=0.001 (1/998, GoNL)
T=0.004 (2/534, MGP)
C=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Stop Gained
Publications
11 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.18222606C>T
GRCh37.p13 chr 8 NC_000008.10:g.18080115C>T
NAT1 RefSeqGene NG_012245.2:g.57145C>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 4 NM_001160173.3:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 5 NM_000662.8:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 1 NM_001160170.4:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 8 NM_001160176.4:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 10 NM_001291962.2:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 9 NM_001160179.3:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 2 NM_001160171.4:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 7 NM_001160175.4:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant 3 NM_001160172.4:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X2 XM_011544687.1:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X1 XM_011544688.1:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X3 XM_017013947.1:c.745C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg249Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X4 XM_006716410.3:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg187Ter R (Arg) > * (Ter) Stop Gained
NAT1 transcript variant X5 XM_011544689.2:c.559C>T R [CGA] > * [TGA] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg187Ter 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 248892 C=0.997039 T=0.002961
European Sub 218592 C=0.997045 T=0.002955
African Sub 8550 C=0.9986 T=0.0014
African Others Sub 300 C=1.000 T=0.000
African American Sub 8250 C=0.9985 T=0.0015
Asian Sub 3918 C=1.0000 T=0.0000
East Asian Sub 3156 C=1.0000 T=0.0000
Other Asian Sub 762 C=1.000 T=0.000
Latin American 1 Sub 1322 C=0.9939 T=0.0061
Latin American 2 Sub 2546 C=0.9949 T=0.0051
South Asian Sub 366 C=1.000 T=0.000
Other Sub 13598 C=0.99573 T=0.00427


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 249942 C=0.997591 T=0.002409
gnomAD - Exomes European Sub 134654 C=0.996985 T=0.003015
gnomAD - Exomes Asian Sub 48738 C=0.99971 T=0.00029
gnomAD - Exomes American Sub 34308 C=0.99709 T=0.00291
gnomAD - Exomes African Sub 16224 C=0.99852 T=0.00148
gnomAD - Exomes Ashkenazi Jewish Sub 9958 C=0.9975 T=0.0025
gnomAD - Exomes Other Sub 6060 C=0.9946 T=0.0054
TopMed Global Study-wide 125568 C=0.997460 T=0.002540
ExAC Global Study-wide 121152 C=0.997309 T=0.002691
ExAC Europe Sub 73244 C=0.99655 T=0.00345
ExAC Asian Sub 25090 C=0.99960 T=0.00040
ExAC American Sub 11528 C=0.99714 T=0.00286
ExAC African Sub 10384 C=0.99807 T=0.00193
ExAC Other Sub 906 C=0.989 T=0.011
ALFA Total Global 106434 C=0.997069 T=0.002931
ALFA European Sub 95870 C=0.99716 T=0.00284
ALFA Other Sub 4776 C=0.9956 T=0.0044
ALFA African Sub 3650 C=0.9978 T=0.0022
ALFA Latin American 2 Sub 1304 C=0.9931 T=0.0069
ALFA Latin American 1 Sub 484 C=0.996 T=0.004
ALFA Asian Sub 286 C=1.000 T=0.000
ALFA South Asian Sub 64 C=1.00 T=0.00
The PAGE Study Global Study-wide 78696 C=0.99720 T=0.00280
The PAGE Study AfricanAmerican Sub 32514 C=0.99806 T=0.00194
The PAGE Study Mexican Sub 10808 C=0.99565 T=0.00435
The PAGE Study Asian Sub 8318 C=0.9999 T=0.0001
The PAGE Study PuertoRican Sub 7918 C=0.9967 T=0.0033
The PAGE Study NativeHawaiian Sub 4532 C=0.9993 T=0.0007
The PAGE Study Cuban Sub 4230 C=0.9913 T=0.0087
The PAGE Study Dominican Sub 3828 C=0.9945 T=0.0055
The PAGE Study CentralAmerican Sub 2450 C=0.9963 T=0.0037
The PAGE Study SouthAmerican Sub 1982 C=0.9950 T=0.0050
The PAGE Study NativeAmerican Sub 1260 C=0.9976 T=0.0024
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
gnomAD - Genomes Global Study-wide 31366 C=0.99767 T=0.00233
gnomAD - Genomes European Sub 18878 C=0.99762 T=0.00238
gnomAD - Genomes African Sub 8704 C=0.9980 T=0.0020
gnomAD - Genomes East Asian Sub 1560 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1086 C=0.9954 T=0.0046
gnomAD - Genomes American Sub 848 C=0.994 T=0.006
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.997 T=0.003
GO Exome Sequencing Project Global Study-wide 13006 C=0.99723 T=0.00277
GO Exome Sequencing Project European American Sub 8600 C=0.9969 T=0.0031
GO Exome Sequencing Project African American Sub 4406 C=0.9980 T=0.0020
1000Genomes Global Study-wide 5008 C=0.9972 T=0.0028
1000Genomes African Sub 1322 C=0.9985 T=0.0015
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9911 T=0.0089
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.996 T=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9989 T=0.0011
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9987 T=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9970 T=0.0030
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.999 T=0.001
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.996 T=0.004
SGDP_PRJ Global Study-wide 4 C=0.5 T=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 C= T
GRCh38.p12 chr 8 NC_000008.11:g.18222606= NC_000008.11:g.18222606C>T
GRCh37.p13 chr 8 NC_000008.10:g.18080115= NC_000008.10:g.18080115C>T
NAT1 RefSeqGene NG_012245.2:g.57145= NG_012245.2:g.57145C>T
NAT1 transcript variant 5 NM_000662.8:c.559= NM_000662.8:c.559C>T
NAT1 transcript variant 5 NM_000662.7:c.559= NM_000662.7:c.559C>T
NAT1 transcript variant 5 NM_000662.5:c.559= NM_000662.5:c.559C>T
NAT1 transcript variant 1 NM_001160170.4:c.559= NM_001160170.4:c.559C>T
NAT1 transcript variant 1 NM_001160170.3:c.559= NM_001160170.3:c.559C>T
NAT1 transcript variant 1 NM_001160170.1:c.559= NM_001160170.1:c.559C>T
NAT1 transcript variant 2 NM_001160171.4:c.559= NM_001160171.4:c.559C>T
NAT1 transcript variant 2 NM_001160171.3:c.559= NM_001160171.3:c.559C>T
NAT1 transcript variant 2 NM_001160171.1:c.559= NM_001160171.1:c.559C>T
NAT1 transcript variant 3 NM_001160172.4:c.559= NM_001160172.4:c.559C>T
NAT1 transcript variant 3 NM_001160172.3:c.559= NM_001160172.3:c.559C>T
NAT1 transcript variant 3 NM_001160172.1:c.559= NM_001160172.1:c.559C>T
NAT1 transcript variant 7 NM_001160175.4:c.745= NM_001160175.4:c.745C>T
NAT1 transcript variant 7 NM_001160175.3:c.745= NM_001160175.3:c.745C>T
NAT1 transcript variant 7 NM_001160175.1:c.745= NM_001160175.1:c.745C>T
NAT1 transcript variant 8 NM_001160176.4:c.745= NM_001160176.4:c.745C>T
NAT1 transcript variant 8 NM_001160176.3:c.745= NM_001160176.3:c.745C>T
NAT1 transcript variant 8 NM_001160176.1:c.745= NM_001160176.1:c.745C>T
NAT1 transcript variant 9 NM_001160179.3:c.559= NM_001160179.3:c.559C>T
NAT1 transcript variant 9 NM_001160179.2:c.559= NM_001160179.2:c.559C>T
NAT1 transcript variant 9 NM_001160179.1:c.559= NM_001160179.1:c.559C>T
NAT1 transcript variant 4 NM_001160173.3:c.559= NM_001160173.3:c.559C>T
NAT1 transcript variant 4 NM_001160173.1:c.559= NM_001160173.1:c.559C>T
NAT1 transcript variant 10 NM_001291962.2:c.745= NM_001291962.2:c.745C>T
NAT1 transcript variant 10 NM_001291962.1:c.745= NM_001291962.1:c.745C>T
NAT1 transcript variant 6 NM_001160174.2:c.559= NM_001160174.2:c.559C>T
NAT1 transcript variant 6 NM_001160174.1:c.559= NM_001160174.1:c.559C>T
NAT1 transcript variant X4 XM_006716410.3:c.559= XM_006716410.3:c.559C>T
NAT1 transcript variant X5 XM_011544689.2:c.559= XM_011544689.2:c.559C>T
NAT1 transcript variant X3 XM_017013947.1:c.745= XM_017013947.1:c.745C>T
NAT1 transcript variant X2 XM_011544687.1:c.745= XM_011544687.1:c.745C>T
NAT1 transcript variant X1 XM_011544688.1:c.745= XM_011544688.1:c.745C>T
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Arg187= NP_000653.3:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Arg187= NP_001153642.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Arg187= NP_001153643.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Arg187= NP_001153644.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Arg249= NP_001153647.1:p.Arg249Ter
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Arg249= NP_001153648.1:p.Arg249Ter
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Arg187= NP_001153651.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Arg187= NP_001153645.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Arg249= NP_001278891.1:p.Arg249Ter
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Arg187= NP_001153646.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Arg187= XP_006716473.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Arg187= XP_011542991.1:p.Arg187Ter
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Arg249= XP_016869436.1:p.Arg249Ter
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Arg249= XP_011542989.1:p.Arg249Ter
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Arg249= XP_011542990.1:p.Arg249Ter
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#.

73 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss7986004 Mar 31, 2003 (113)
2 1000GENOMES ss334724008 May 09, 2011 (134)
3 NHLBI-ESP ss342253585 May 09, 2011 (134)
4 ILLUMINA ss481130403 May 04, 2012 (137)
5 ILLUMINA ss481152436 May 04, 2012 (137)
6 ILLUMINA ss482141973 Sep 08, 2015 (146)
7 ILLUMINA ss485360228 May 04, 2012 (137)
8 1000GENOMES ss490960709 May 04, 2012 (137)
9 EXOME_CHIP ss491410742 May 04, 2012 (137)
10 CLINSEQ_SNP ss491921829 May 04, 2012 (137)
11 ILLUMINA ss537304737 Sep 08, 2015 (146)
12 ILLUMINA ss778556160 Sep 08, 2015 (146)
13 ILLUMINA ss780867812 Sep 08, 2015 (146)
14 ILLUMINA ss783125803 Sep 08, 2015 (146)
15 ILLUMINA ss783552743 Sep 08, 2015 (146)
16 ILLUMINA ss784082424 Sep 08, 2015 (146)
17 ILLUMINA ss832384641 Sep 08, 2015 (146)
18 ILLUMINA ss834012960 Sep 08, 2015 (146)
19 EVA-GONL ss985254178 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1067495857 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1075324500 Aug 21, 2014 (142)
22 1000GENOMES ss1328847118 Aug 21, 2014 (142)
23 EVA_DECODE ss1594843096 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1620096459 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1663090492 Apr 01, 2015 (144)
26 EVA_EXAC ss1689107685 Apr 01, 2015 (144)
27 EVA_MGP ss1711194377 Apr 01, 2015 (144)
28 ILLUMINA ss1752722037 Sep 08, 2015 (146)
29 ILLUMINA ss1946231053 Feb 12, 2016 (147)
30 ILLUMINA ss1959092251 Feb 12, 2016 (147)
31 HUMAN_LONGEVITY ss2301150671 Dec 20, 2016 (150)
32 TOPMED ss2470808523 Dec 20, 2016 (150)
33 ILLUMINA ss2634717605 Nov 08, 2017 (151)
34 ILLUMINA ss2634717606 Nov 08, 2017 (151)
35 ILLUMINA ss2634717607 Nov 08, 2017 (151)
36 ILLUMINA ss2711131558 Nov 08, 2017 (151)
37 GNOMAD ss2737016437 Nov 08, 2017 (151)
38 GNOMAD ss2748005862 Nov 08, 2017 (151)
39 GNOMAD ss2863915037 Nov 08, 2017 (151)
40 AFFY ss2985432570 Nov 08, 2017 (151)
41 AFFY ss2986074623 Nov 08, 2017 (151)
42 SWEGEN ss3002777605 Nov 08, 2017 (151)
43 ILLUMINA ss3022824292 Nov 08, 2017 (151)
44 TOPMED ss3555475138 Nov 08, 2017 (151)
45 ILLUMINA ss3625946891 Oct 12, 2018 (152)
46 ILLUMINA ss3630009298 Oct 12, 2018 (152)
47 ILLUMINA ss3630009299 Oct 12, 2018 (152)
48 ILLUMINA ss3632618295 Oct 12, 2018 (152)
49 ILLUMINA ss3633492867 Oct 12, 2018 (152)
50 ILLUMINA ss3634219268 Oct 12, 2018 (152)
51 ILLUMINA ss3635161155 Oct 12, 2018 (152)
52 ILLUMINA ss3635161156 Oct 12, 2018 (152)
53 ILLUMINA ss3636897919 Oct 12, 2018 (152)
54 ILLUMINA ss3637651397 Oct 12, 2018 (152)
55 ILLUMINA ss3638747169 Oct 12, 2018 (152)
56 ILLUMINA ss3640868445 Oct 12, 2018 (152)
57 ILLUMINA ss3640868446 Oct 12, 2018 (152)
58 ILLUMINA ss3643679059 Oct 12, 2018 (152)
59 ILLUMINA ss3644964229 Oct 12, 2018 (152)
60 ILLUMINA ss3653365114 Oct 12, 2018 (152)
61 ILLUMINA ss3654194358 Oct 12, 2018 (152)
62 EGCUT_WGS ss3670456205 Jul 13, 2019 (153)
63 EVA_DECODE ss3721523294 Jul 13, 2019 (153)
64 ILLUMINA ss3726518691 Jul 13, 2019 (153)
65 ILLUMINA ss3744302544 Jul 13, 2019 (153)
66 ILLUMINA ss3745460948 Jul 13, 2019 (153)
67 ILLUMINA ss3745460949 Jul 13, 2019 (153)
68 PAGE_CC ss3771427364 Jul 13, 2019 (153)
69 ILLUMINA ss3772953550 Jul 13, 2019 (153)
70 KHV_HUMAN_GENOMES ss3810859210 Jul 13, 2019 (153)
71 EVA ss3824350591 Apr 26, 2020 (154)
72 EVA ss3825736872 Apr 26, 2020 (154)
73 SGDP_PRJ ss3869401319 Apr 26, 2020 (154)
74 1000Genomes NC_000008.10 - 18080115 Oct 12, 2018 (152)
75 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080115 Oct 12, 2018 (152)
76 Genetic variation in the Estonian population NC_000008.10 - 18080115 Oct 12, 2018 (152)
77 ExAC NC_000008.10 - 18080115 Oct 12, 2018 (152)
78 gnomAD - Genomes NC_000008.10 - 18080115 Jul 13, 2019 (153)
79 gnomAD - Exomes NC_000008.10 - 18080115 Jul 13, 2019 (153)
80 GO Exome Sequencing Project NC_000008.10 - 18080115 Oct 12, 2018 (152)
81 Genome of the Netherlands Release 5 NC_000008.10 - 18080115 Apr 26, 2020 (154)
82 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080115 Apr 26, 2020 (154)
83 The PAGE Study NC_000008.11 - 18222606 Jul 13, 2019 (153)
84 SGDP_PRJ NC_000008.10 - 18080115 Apr 26, 2020 (154)
85 TopMed NC_000008.11 - 18222606 Oct 12, 2018 (152)
86 UK 10K study - Twins NC_000008.10 - 18080115 Oct 12, 2018 (152)
87 dbGaP Population Frequency Project NC_000008.11 - 18222606 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
ss481130403, ss491921829, ss1594843096, ss3643679059 NC_000008.9:18124394:C:T NC_000008.11:18222605:C:T (self)
40940101, 22757065, 16194453, 9201031, 111829285, 6184347, 808451, 10168792, 310137, 21418299, 22757065, ss334724008, ss342253585, ss481152436, ss482141973, ss485360228, ss490960709, ss491410742, ss537304737, ss778556160, ss780867812, ss783125803, ss783552743, ss784082424, ss832384641, ss834012960, ss985254178, ss1067495857, ss1075324500, ss1328847118, ss1620096459, ss1663090492, ss1689107685, ss1711194377, ss1752722037, ss1946231053, ss1959092251, ss2470808523, ss2634717605, ss2634717606, ss2634717607, ss2711131558, ss2737016437, ss2748005862, ss2863915037, ss2985432570, ss2986074623, ss3002777605, ss3022824292, ss3625946891, ss3630009298, ss3630009299, ss3632618295, ss3633492867, ss3634219268, ss3635161155, ss3635161156, ss3636897919, ss3637651397, ss3638747169, ss3640868445, ss3640868446, ss3644964229, ss3653365114, ss3654194358, ss3670456205, ss3744302544, ss3745460948, ss3745460949, ss3772953550, ss3824350591, ss3825736872, ss3869401319 NC_000008.10:18080114:C:T NC_000008.11:18222605:C:T (self)
648833, 384349530, 327487808, ss2301150671, ss3555475138, ss3721523294, ss3726518691, ss3771427364, ss3810859210 NC_000008.11:18222605:C:T NC_000008.11:18222605:C:T (self)
ss7986004 NT_167187.1:5938260:C:T NC_000008.11:18222605:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

11 citations for rs5030839
PMID Title Author Year Journal
16112301 NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. GarcĂ­a-Closas M et al. 2005 Lancet (London, England)
20461113 A screening methodology based on Random Forests to improve the detection of gene-gene interactions. De Lobel L et al. 2010 European journal of human genetics
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
22424094 Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. Potts LF et al. 2012 BMC medical genetics
23015320 Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps. Fu Z et al. 2012 The American journal of clinical nutrition
23299405 Interaction of cigarette smoking and carcinogen-metabolizing polymorphisms in the risk of colorectal polyps. Fu Z et al. 2013 Carcinogenesis
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
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
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
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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
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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