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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.

rs56172717

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222799 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.002414 (603/249820, GnomAD_exome)
T=0.001840 (231/125568, TOPMED)
T=0.002422 (292/120548, ExAC) (+ 12 more)
T=0.00119 (94/78692, PAGE_STUDY)
T=0.00296 (93/31404, GnomAD)
T=0.00238 (31/13006, GO-ESP)
T=0.00243 (30/12354, ALFA Project)
T=0.0012 (6/5008, 1000G)
T=0.0080 (36/4480, Estonian)
T=0.0036 (14/3854, ALSPAC)
T=0.0032 (12/3708, TWINSUK)
T=0.001 (1/998, GoNL)
T=0.005 (3/600, NorthernSweden)
T=0.006 (3/534, MGP)
T=0.010 (3/304, FINRISK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Missense Variant
Publications
5 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.18222799A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080308A>T
NAT1 RefSeqGene NG_012245.2:g.57338A>T
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.938A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Asp313Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Asp251Val D (Asp) > V (Val) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.752A>T D [GAT] > V [GTT] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Asp251Val D (Asp) > 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 115790 A=0.997340 T=0.002660
European Sub 98012 A=0.99706 T=0.00294
African Sub 4374 A=0.9991 T=0.0009
African Others Sub 174 A=1.000 T=0.000
African American Sub 4200 A=0.9990 T=0.0010
Asian Sub 3316 A=1.0000 T=0.0000
East Asian Sub 2662 A=1.0000 T=0.0000
Other Asian Sub 654 A=1.000 T=0.000
Latin American 1 Sub 790 A=0.999 T=0.001
Latin American 2 Sub 946 A=0.998 T=0.002
South Asian Sub 274 A=0.996 T=0.004
Other Sub 8078 A=0.9985 T=0.0015


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 249820 A=0.997586 T=0.002414
gnomAD - Exomes European Sub 134798 A=0.995994 T=0.004006
gnomAD - Exomes Asian Sub 48604 A=0.99990 T=0.00010
gnomAD - Exomes American Sub 34178 A=0.99901 T=0.00099
gnomAD - Exomes African Sub 16182 A=0.99951 T=0.00049
gnomAD - Exomes Ashkenazi Jewish Sub 10002 A=0.99930 T=0.00070
gnomAD - Exomes Other Sub 6056 A=0.9985 T=0.0015
TopMed Global Study-wide 125568 A=0.998160 T=0.001840
ExAC Global Study-wide 120548 A=0.997578 T=0.002422
ExAC Europe Sub 72956 A=0.99627 T=0.00373
ExAC Asian Sub 25028 A=0.99988 T=0.00012
ExAC American Sub 11438 A=0.99930 T=0.00070
ExAC African Sub 10224 A=0.99941 T=0.00059
ExAC Other Sub 902 A=0.997 T=0.003
The PAGE Study Global Study-wide 78692 A=0.99881 T=0.00119
The PAGE Study AfricanAmerican Sub 32512 A=0.99960 T=0.00040
The PAGE Study Mexican Sub 10810 A=0.99870 T=0.00130
The PAGE Study Asian Sub 8316 A=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9934 T=0.0066
The PAGE Study NativeHawaiian Sub 4532 A=0.9998 T=0.0002
The PAGE Study Cuban Sub 4230 A=0.9979 T=0.0021
The PAGE Study Dominican Sub 3826 A=0.9995 T=0.0005
The PAGE Study CentralAmerican Sub 2450 A=0.9996 T=0.0004
The PAGE Study SouthAmerican Sub 1982 A=0.9995 T=0.0005
The PAGE Study NativeAmerican Sub 1260 A=0.9992 T=0.0008
The PAGE Study SouthAsian Sub 856 A=1.000 T=0.000
gnomAD - Genomes Global Study-wide 31404 A=0.99704 T=0.00296
gnomAD - Genomes European Sub 18902 A=0.99587 T=0.00413
gnomAD - Genomes African Sub 8716 A=0.9992 T=0.0008
gnomAD - Genomes East Asian Sub 1560 A=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1088 A=0.9936 T=0.0064
gnomAD - Genomes American Sub 848 A=0.999 T=0.001
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99762 T=0.00238
GO Exome Sequencing Project European American Sub 8600 A=0.9970 T=0.0030
GO Exome Sequencing Project African American Sub 4406 A=0.9989 T=0.0011
ALFA Total Global 12354 A=0.99757 T=0.00243
ALFA European Sub 9284 A=0.9970 T=0.0030
ALFA Other Sub 2330 A=0.9996 T=0.0004
ALFA African Sub 676 A=0.999 T=0.001
ALFA Asian Sub 60 A=1.00 T=0.00
ALFA South Asian Sub 4 A=1.0 T=0.0
ALFA Latin American 1 Sub 0 A=0 T=0
ALFA Latin American 2 Sub 0 A=0 T=0
1000Genomes Global Study-wide 5008 A=0.9988 T=0.0012
1000Genomes African Sub 1322 A=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 T=0.0000
1000Genomes Europe Sub 1006 A=0.9950 T=0.0050
1000Genomes South Asian Sub 978 A=1.000 T=0.000
1000Genomes American Sub 694 A=0.999 T=0.001
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9920 T=0.0080
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9964 T=0.0036
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9968 T=0.0032
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.999 T=0.001
Northern Sweden ACPOP Study-wide 600 A=0.995 T=0.005
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.994 T=0.006
FINRISK Finnish from FINRISK project Study-wide 304 A=0.990 T=0.010
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= T
GRCh38.p12 chr 8 NC_000008.11:g.18222799= NC_000008.11:g.18222799A>T
GRCh37.p13 chr 8 NC_000008.10:g.18080308= NC_000008.10:g.18080308A>T
NAT1 RefSeqGene NG_012245.2:g.57338= NG_012245.2:g.57338A>T
NAT1 transcript variant 5 NM_000662.8:c.752= NM_000662.8:c.752A>T
NAT1 transcript variant 5 NM_000662.7:c.752= NM_000662.7:c.752A>T
NAT1 transcript variant 5 NM_000662.5:c.752= NM_000662.5:c.752A>T
NAT1 transcript variant 1 NM_001160170.4:c.752= NM_001160170.4:c.752A>T
NAT1 transcript variant 1 NM_001160170.3:c.752= NM_001160170.3:c.752A>T
NAT1 transcript variant 1 NM_001160170.1:c.752= NM_001160170.1:c.752A>T
NAT1 transcript variant 2 NM_001160171.4:c.752= NM_001160171.4:c.752A>T
NAT1 transcript variant 2 NM_001160171.3:c.752= NM_001160171.3:c.752A>T
NAT1 transcript variant 2 NM_001160171.1:c.752= NM_001160171.1:c.752A>T
NAT1 transcript variant 3 NM_001160172.4:c.752= NM_001160172.4:c.752A>T
NAT1 transcript variant 3 NM_001160172.3:c.752= NM_001160172.3:c.752A>T
NAT1 transcript variant 3 NM_001160172.1:c.752= NM_001160172.1:c.752A>T
NAT1 transcript variant 7 NM_001160175.4:c.938= NM_001160175.4:c.938A>T
NAT1 transcript variant 7 NM_001160175.3:c.938= NM_001160175.3:c.938A>T
NAT1 transcript variant 7 NM_001160175.1:c.938= NM_001160175.1:c.938A>T
NAT1 transcript variant 8 NM_001160176.4:c.938= NM_001160176.4:c.938A>T
NAT1 transcript variant 8 NM_001160176.3:c.938= NM_001160176.3:c.938A>T
NAT1 transcript variant 8 NM_001160176.1:c.938= NM_001160176.1:c.938A>T
NAT1 transcript variant 9 NM_001160179.3:c.752= NM_001160179.3:c.752A>T
NAT1 transcript variant 9 NM_001160179.2:c.752= NM_001160179.2:c.752A>T
NAT1 transcript variant 9 NM_001160179.1:c.752= NM_001160179.1:c.752A>T
NAT1 transcript variant 4 NM_001160173.3:c.752= NM_001160173.3:c.752A>T
NAT1 transcript variant 4 NM_001160173.1:c.752= NM_001160173.1:c.752A>T
NAT1 transcript variant 10 NM_001291962.2:c.938= NM_001291962.2:c.938A>T
NAT1 transcript variant 10 NM_001291962.1:c.938= NM_001291962.1:c.938A>T
NAT1 transcript variant 6 NM_001160174.2:c.752= NM_001160174.2:c.752A>T
NAT1 transcript variant 6 NM_001160174.1:c.752= NM_001160174.1:c.752A>T
NAT1 transcript variant X4 XM_006716410.3:c.752= XM_006716410.3:c.752A>T
NAT1 transcript variant X5 XM_011544689.2:c.752= XM_011544689.2:c.752A>T
NAT1 transcript variant X3 XM_017013947.1:c.938= XM_017013947.1:c.938A>T
NAT1 transcript variant X2 XM_011544687.1:c.938= XM_011544687.1:c.938A>T
NAT1 transcript variant X1 XM_011544688.1:c.938= XM_011544688.1:c.938A>T
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Asp251= NP_000653.3:p.Asp251Val
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Asp251= NP_001153642.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Asp251= NP_001153643.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Asp251= NP_001153644.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Asp313= NP_001153647.1:p.Asp313Val
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Asp313= NP_001153648.1:p.Asp313Val
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Asp251= NP_001153651.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Asp251= NP_001153645.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Asp313= NP_001278891.1:p.Asp313Val
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Asp251= NP_001153646.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Asp251= XP_006716473.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Asp251= XP_011542991.1:p.Asp251Val
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Asp313= XP_016869436.1:p.Asp313Val
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Asp313= XP_011542989.1:p.Asp313Val
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Asp313= XP_011542990.1:p.Asp313Val
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#.

55 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss75261833 Dec 07, 2007 (129)
2 AFFY_DM3_1 ss105434756 Feb 04, 2009 (130)
3 ILLUMINA ss161079685 Dec 01, 2009 (131)
4 ILLUMINA ss169136297 Jul 04, 2010 (132)
5 NHLBI-ESP ss342253590 May 09, 2011 (134)
6 ILLUMINA ss483025687 Sep 08, 2015 (146)
7 1000GENOMES ss488883389 May 04, 2012 (137)
8 EXOME_CHIP ss491410746 May 04, 2012 (137)
9 CLINSEQ_SNP ss491921833 May 04, 2012 (137)
10 ILLUMINA ss537652775 Sep 08, 2015 (146)
11 ILLUMINA ss780867815 Aug 21, 2014 (142)
12 ILLUMINA ss783552746 Aug 21, 2014 (142)
13 EVA-GONL ss985254183 Aug 21, 2014 (142)
14 1000GENOMES ss1328847124 Aug 21, 2014 (142)
15 EVA_FINRISK ss1584057285 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1620096464 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1663090497 Apr 01, 2015 (144)
18 EVA_EXAC ss1689107723 Apr 01, 2015 (144)
19 EVA_MGP ss1711194380 Apr 01, 2015 (144)
20 ILLUMINA ss1752722041 Sep 08, 2015 (146)
21 ILLUMINA ss1917826196 Feb 12, 2016 (147)
22 ILLUMINA ss1946231057 Feb 12, 2016 (147)
23 ILLUMINA ss1959092256 Feb 12, 2016 (147)
24 HUMAN_LONGEVITY ss2301150684 Dec 20, 2016 (150)
25 TOPMED ss2470808532 Dec 20, 2016 (150)
26 ILLUMINA ss2634717610 Nov 08, 2017 (151)
27 ILLUMINA ss2711131561 Nov 08, 2017 (151)
28 GNOMAD ss2737016494 Nov 08, 2017 (151)
29 GNOMAD ss2748005878 Nov 08, 2017 (151)
30 GNOMAD ss2863915053 Nov 08, 2017 (151)
31 AFFY ss2985432576 Nov 08, 2017 (151)
32 AFFY ss2986074627 Nov 08, 2017 (151)
33 SWEGEN ss3002777611 Nov 08, 2017 (151)
34 ILLUMINA ss3022824296 Nov 08, 2017 (151)
35 TOPMED ss3555475173 Nov 08, 2017 (151)
36 ILLUMINA ss3630009304 Oct 12, 2018 (152)
37 ILLUMINA ss3630009305 Oct 12, 2018 (152)
38 ILLUMINA ss3635161160 Oct 12, 2018 (152)
39 ILLUMINA ss3636897922 Oct 12, 2018 (152)
40 ILLUMINA ss3638747172 Oct 12, 2018 (152)
41 ILLUMINA ss3640868450 Oct 12, 2018 (152)
42 ILLUMINA ss3643679062 Oct 12, 2018 (152)
43 ILLUMINA ss3644964233 Oct 12, 2018 (152)
44 ILLUMINA ss3653365118 Oct 12, 2018 (152)
45 ILLUMINA ss3654194364 Oct 12, 2018 (152)
46 EGCUT_WGS ss3670456209 Jul 13, 2019 (153)
47 EVA_DECODE ss3721523301 Jul 13, 2019 (153)
48 ILLUMINA ss3726518694 Jul 13, 2019 (153)
49 ACPOP ss3735451686 Jul 13, 2019 (153)
50 ILLUMINA ss3744577624 Jul 13, 2019 (153)
51 ILLUMINA ss3745460953 Jul 13, 2019 (153)
52 PAGE_CC ss3771427367 Jul 13, 2019 (153)
53 ILLUMINA ss3772953554 Jul 13, 2019 (153)
54 EVA ss3824350601 Apr 26, 2020 (154)
55 EVA ss3825736875 Apr 26, 2020 (154)
56 1000Genomes NC_000008.10 - 18080308 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080308 Oct 12, 2018 (152)
58 Genetic variation in the Estonian population NC_000008.10 - 18080308 Oct 12, 2018 (152)
59 ExAC NC_000008.10 - 18080308 Oct 12, 2018 (152)
60 FINRISK NC_000008.10 - 18080308 Apr 26, 2020 (154)
61 gnomAD - Genomes NC_000008.10 - 18080308 Jul 13, 2019 (153)
62 gnomAD - Exomes NC_000008.10 - 18080308 Jul 13, 2019 (153)
63 GO Exome Sequencing Project NC_000008.10 - 18080308 Oct 12, 2018 (152)
64 Genome of the Netherlands Release 5 NC_000008.10 - 18080308 Apr 26, 2020 (154)
65 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080308 Apr 26, 2020 (154)
66 Northern Sweden NC_000008.10 - 18080308 Jul 13, 2019 (153)
67 The PAGE Study NC_000008.11 - 18222799 Jul 13, 2019 (153)
68 TopMed NC_000008.11 - 18222799 Oct 12, 2018 (152)
69 UK 10K study - Twins NC_000008.10 - 18080308 Oct 12, 2018 (152)
70 dbGaP Population Frequency Project NC_000008.11 - 18222799 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
ss491921833, ss3643679062 NC_000008.9:18124587:A:T NC_000008.11:18222798:A:T (self)
40940107, 22757071, 16194457, 9201073, 53746, 111829299, 6184415, 808461, 10168797, 310140, 8736551, 22757071, ss342253590, ss483025687, ss488883389, ss491410746, ss537652775, ss780867815, ss783552746, ss985254183, ss1328847124, ss1584057285, ss1620096464, ss1663090497, ss1689107723, ss1711194380, ss1752722041, ss1917826196, ss1946231057, ss1959092256, ss2470808532, ss2634717610, ss2711131561, ss2737016494, ss2748005878, ss2863915053, ss2985432576, ss2986074627, ss3002777611, ss3022824296, ss3630009304, ss3630009305, ss3635161160, ss3636897922, ss3638747172, ss3640868450, ss3644964233, ss3653365118, ss3654194364, ss3670456209, ss3735451686, ss3744577624, ss3745460953, ss3772953554, ss3824350601, ss3825736875 NC_000008.10:18080307:A:T NC_000008.11:18222798:A:T (self)
648836, 384349561, 788997957, ss2301150684, ss3555475173, ss3721523301, ss3726518694, ss3771427367 NC_000008.11:18222798:A:T NC_000008.11:18222798:A:T (self)
ss75261833, ss105434756, ss161079685, ss169136297 NT_167187.1:5938453:A:T NC_000008.11:18222798:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs56172717
PMID Title Author Year Journal
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Carter TC et al. 2011 American journal of medical genetics. Part A
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