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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.

rs165728

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19969500 (GRCh38.p13) 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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.093169 (24661/264690, TOPMED)
C=0.062761 (14203/226302, ALFA)
C=0.080260 (11245/140108, GnomAD) (+ 17 more)
C=0.15246 (11984/78606, PAGE_STUDY)
C=0.39039 (6543/16760, 8.3KJPN)
C=0.1593 (798/5008, 1000G)
C=0.0946 (424/4480, Estonian)
C=0.0516 (199/3854, ALSPAC)
C=0.0556 (206/3708, TWINSUK)
C=0.3907 (1144/2928, KOREAN)
C=0.1279 (242/1892, HapMap)
C=0.4039 (740/1832, Korea1K)
C=0.031 (31/998, GoNL)
C=0.408 (301/738, PRJEB37584)
C=0.055 (33/600, NorthernSweden)
C=0.141 (76/538, SGDP_PRJ)
C=0.056 (12/216, Qatari)
C=0.412 (89/216, Vietnamese)
C=0.07 (4/56, Siberian)
C=0.03 (1/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARVCF : Intron Variant
COMT : 3 Prime UTR Variant
Publications
8 citations
Genomic View
See rs on genome

ALFA Allele Frequency
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 226302 C=0.062761 G=0.000000, T=0.937239
European Sub 198436 C=0.051992 G=0.000000, T=0.948008
African Sub 6612 C=0.0600 G=0.0000, T=0.9400
African Others Sub 242 C=0.054 G=0.000, T=0.946
African American Sub 6370 C=0.0603 G=0.0000, T=0.9397
Asian Sub 778 C=0.392 G=0.000, T=0.608
East Asian Sub 632 C=0.392 G=0.000, T=0.608
Other Asian Sub 146 C=0.390 G=0.000, T=0.610
Latin American 1 Sub 840 C=0.070 G=0.000, T=0.930
Latin American 2 Sub 6838 C=0.2786 G=0.0000, T=0.7214
South Asian Sub 5048 C=0.1032 G=0.0000, T=0.8968
Other Sub 7750 C=0.0902 G=0.0000, T=0.9098


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
TopMed Global Study-wide 264690 C=0.093169 T=0.906831
Allele Frequency Aggregator Total Global 226302 C=0.062761 G=0.000000, T=0.937239
Allele Frequency Aggregator European Sub 198436 C=0.051992 G=0.000000, T=0.948008
Allele Frequency Aggregator Other Sub 7750 C=0.0902 G=0.0000, T=0.9098
Allele Frequency Aggregator Latin American 2 Sub 6838 C=0.2786 G=0.0000, T=0.7214
Allele Frequency Aggregator African Sub 6612 C=0.0600 G=0.0000, T=0.9400
Allele Frequency Aggregator South Asian Sub 5048 C=0.1032 G=0.0000, T=0.8968
Allele Frequency Aggregator Latin American 1 Sub 840 C=0.070 G=0.000, T=0.930
Allele Frequency Aggregator Asian Sub 778 C=0.392 G=0.000, T=0.608
gnomAD - Genomes Global Study-wide 140108 C=0.080260 T=0.919740
gnomAD - Genomes European Sub 75890 C=0.06279 T=0.93721
gnomAD - Genomes African Sub 41978 C=0.05672 T=0.94328
gnomAD - Genomes American Sub 13642 C=0.18113 T=0.81887
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.0382 T=0.9618
gnomAD - Genomes East Asian Sub 3122 C=0.4100 T=0.5900
gnomAD - Genomes Other Sub 2152 C=0.1027 T=0.8973
The PAGE Study Global Study-wide 78606 C=0.15246 T=0.84754
The PAGE Study AfricanAmerican Sub 32452 C=0.06255 T=0.93745
The PAGE Study Mexican Sub 10806 C=0.27364 T=0.72636
The PAGE Study Asian Sub 8310 C=0.3822 T=0.6178
The PAGE Study PuertoRican Sub 7916 C=0.0987 T=0.9013
The PAGE Study NativeHawaiian Sub 4524 C=0.2217 T=0.7783
The PAGE Study Cuban Sub 4228 C=0.0714 T=0.9286
The PAGE Study Dominican Sub 3826 C=0.0823 T=0.9177
The PAGE Study CentralAmerican Sub 2448 C=0.2402 T=0.7598
The PAGE Study SouthAmerican Sub 1980 C=0.2753 T=0.7247
The PAGE Study NativeAmerican Sub 1260 C=0.1484 T=0.8516
The PAGE Study SouthAsian Sub 856 C=0.117 T=0.883
8.3KJPN JAPANESE Study-wide 16760 C=0.39039 T=0.60961
1000Genomes Global Study-wide 5008 C=0.1593 T=0.8407
1000Genomes African Sub 1322 C=0.0620 T=0.9380
1000Genomes East Asian Sub 1008 C=0.3740 T=0.6260
1000Genomes Europe Sub 1006 C=0.0666 T=0.9334
1000Genomes South Asian Sub 978 C=0.111 T=0.889
1000Genomes American Sub 694 C=0.235 T=0.765
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.0946 T=0.9054
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.0516 T=0.9484
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.0556 T=0.9444
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.3907 A=0.0000, G=0.0000, T=0.6093
HapMap Global Study-wide 1892 C=0.1279 T=0.8721
HapMap American Sub 770 C=0.173 T=0.827
HapMap African Sub 692 C=0.036 T=0.964
HapMap Asian Sub 254 C=0.315 T=0.685
HapMap Europe Sub 176 C=0.023 T=0.977
Korean Genome Project KOREAN Study-wide 1832 C=0.4039 T=0.5961
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.031 T=0.969
CNV burdens in cranial meningiomas Global Study-wide 738 C=0.408 T=0.592
CNV burdens in cranial meningiomas CRM Sub 738 C=0.408 T=0.592
Northern Sweden ACPOP Study-wide 600 C=0.055 T=0.945
SGDP_PRJ Global Study-wide 538 C=0.141 T=0.859
Qatari Global Study-wide 216 C=0.056 T=0.944
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.412 T=0.588
Siberian Global Study-wide 56 C=0.07 T=0.93
The Danish reference pan genome Danish Study-wide 40 C=0.03 T=0.97
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.p13 chr 22 NC_000022.11:g.19969500C>A
GRCh38.p13 chr 22 NC_000022.11:g.19969500C>G
GRCh38.p13 chr 22 NC_000022.11:g.19969500C>T
GRCh37.p13 chr 22 NC_000022.10:g.19957023C>A
GRCh37.p13 chr 22 NC_000022.10:g.19957023C>G
GRCh37.p13 chr 22 NC_000022.10:g.19957023C>T
ARVCF RefSeqGene NG_023326.1:g.52287G>T
ARVCF RefSeqGene NG_023326.1:g.52287G>C
ARVCF RefSeqGene NG_023326.1:g.52287G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32761C>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32761C>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32761C>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 3 NM_001135162.2:c.*764= N/A 3 Prime UTR Variant
COMT transcript variant 2 NM_001135161.2:c.*764= N/A 3 Prime UTR Variant
COMT transcript variant 5 NM_001362828.2:c.*764= N/A 3 Prime UTR Variant
COMT transcript variant 4 NM_007310.3:c.*764= N/A 3 Prime UTR Variant
COMT transcript variant 1 NM_000754.4:c.*764= N/A 3 Prime UTR Variant
Gene: ARVCF, ARVCF delta catenin family member (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARVCF transcript variant 1 NM_001670.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X2 XM_005261242.3:c.2764-229…

XM_005261242.3:c.2764-2291G>T

N/A Intron Variant
ARVCF transcript variant X1 XM_006724243.3:c.2782-229…

XM_006724243.3:c.2782-2291G>T

N/A Intron Variant
ARVCF transcript variant X8 XM_006724246.4:c.2536-229…

XM_006724246.4:c.2536-2291G>T

N/A Intron Variant
ARVCF transcript variant X3 XM_011530179.3:c.2749-229…

XM_011530179.3:c.2749-2291G>T

N/A Intron Variant
ARVCF transcript variant X17 XM_011530182.3:c.1348-229…

XM_011530182.3:c.1348-2291G>T

N/A Intron Variant
ARVCF transcript variant X9 XM_024452249.1:c.2536-229…

XM_024452249.1:c.2536-2291G>T

N/A Intron Variant
ARVCF transcript variant X5 XM_005261243.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X7 XM_005261244.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X6 XM_006724245.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X10 XM_006724247.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X11 XM_006724248.4:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X14 XM_006724249.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X15 XM_006724250.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X4 XM_011530180.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X16 XM_011530181.1:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X18 XM_011530183.3:c. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X12 XR_937863.2:n. N/A Genic Downstream Transcript Variant
ARVCF transcript variant X13 XR_937864.1:n. N/A Genic Downstream Transcript 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.

Allele: T (allele ID: 817857 )
ClinVar Accession Disease Names Clinical Significance
RCV001029662.1 Tramadol response Drug-Response
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= A G T
GRCh38.p13 chr 22 NC_000022.11:g.19969500= NC_000022.11:g.19969500C>A NC_000022.11:g.19969500C>G NC_000022.11:g.19969500C>T
GRCh37.p13 chr 22 NC_000022.10:g.19957023= NC_000022.10:g.19957023C>A NC_000022.10:g.19957023C>G NC_000022.10:g.19957023C>T
ARVCF RefSeqGene NG_023326.1:g.52287= NG_023326.1:g.52287G>T NG_023326.1:g.52287G>C NG_023326.1:g.52287G>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.32761= NG_011526.1:g.32761C>A NG_011526.1:g.32761C>G NG_011526.1:g.32761C>T
COMT transcript variant 1 NM_000754.4:c.*764= NM_000754.4:c.*764C>A NM_000754.4:c.*764C>G NM_000754.4:c.*764C>T
COMT transcript variant 1 NM_000754.3:c.*764= NM_000754.3:c.*764C>A NM_000754.3:c.*764C>G NM_000754.3:c.*764C>T
COMT transcript variant 4 NM_007310.3:c.*764= NM_007310.3:c.*764C>A NM_007310.3:c.*764C>G NM_007310.3:c.*764C>T
COMT transcript variant 4 NM_007310.2:c.*764= NM_007310.2:c.*764C>A NM_007310.2:c.*764C>G NM_007310.2:c.*764C>T
COMT transcript variant 5 NM_001362828.2:c.*764= NM_001362828.2:c.*764C>A NM_001362828.2:c.*764C>G NM_001362828.2:c.*764C>T
COMT transcript variant 5 NM_001362828.1:c.*764= NM_001362828.1:c.*764C>A NM_001362828.1:c.*764C>G NM_001362828.1:c.*764C>T
COMT transcript variant 2 NM_001135161.2:c.*764= NM_001135161.2:c.*764C>A NM_001135161.2:c.*764C>G NM_001135161.2:c.*764C>T
COMT transcript variant 2 NM_001135161.1:c.*764= NM_001135161.1:c.*764C>A NM_001135161.1:c.*764C>G NM_001135161.1:c.*764C>T
COMT transcript variant 3 NM_001135162.2:c.*764= NM_001135162.2:c.*764C>A NM_001135162.2:c.*764C>G NM_001135162.2:c.*764C>T
COMT transcript variant 3 NM_001135162.1:c.*764= NM_001135162.1:c.*764C>A NM_001135162.1:c.*764C>G NM_001135162.1:c.*764C>T
ARVCF transcript variant X2 XM_005261242.1:c.2764-2291= XM_005261242.1:c.2764-2291G>T XM_005261242.1:c.2764-2291G>C XM_005261242.1:c.2764-2291G>A
ARVCF transcript variant X2 XM_005261242.3:c.2764-2291= XM_005261242.3:c.2764-2291G>T XM_005261242.3:c.2764-2291G>C XM_005261242.3:c.2764-2291G>A
ARVCF transcript variant X1 XM_006724243.3:c.2782-2291= XM_006724243.3:c.2782-2291G>T XM_006724243.3:c.2782-2291G>C XM_006724243.3:c.2782-2291G>A
ARVCF transcript variant X8 XM_006724246.4:c.2536-2291= XM_006724246.4:c.2536-2291G>T XM_006724246.4:c.2536-2291G>C XM_006724246.4:c.2536-2291G>A
ARVCF transcript variant X3 XM_011530179.3:c.2749-2291= XM_011530179.3:c.2749-2291G>T XM_011530179.3:c.2749-2291G>C XM_011530179.3:c.2749-2291G>A
ARVCF transcript variant X17 XM_011530182.3:c.1348-2291= XM_011530182.3:c.1348-2291G>T XM_011530182.3:c.1348-2291G>C XM_011530182.3:c.1348-2291G>A
ARVCF transcript variant X9 XM_024452249.1:c.2536-2291= XM_024452249.1:c.2536-2291G>T XM_024452249.1:c.2536-2291G>C XM_024452249.1:c.2536-2291G>A
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#.

125 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss232578 Jul 12, 2000 (79)
2 SC ss459063 Jul 12, 2000 (79)
3 SC_JCM ss548085 Jul 16, 2000 (80)
4 KWOK ss1058130 Oct 04, 2000 (86)
5 KWOK ss1750416 Oct 18, 2000 (87)
6 RIKENSNPRC ss6311523 Feb 20, 2003 (111)
7 EGP_SNPS ss12673796 Dec 05, 2003 (119)
8 CSHL-HAPMAP ss16919863 Feb 27, 2004 (120)
9 SSAHASNP ss21852391 Apr 05, 2004 (121)
10 SNP500CANCER ss48292717 Mar 14, 2006 (126)
11 ILLUMINA ss75263672 Dec 06, 2007 (129)
12 HGSV ss77739667 Dec 06, 2007 (129)
13 HGSV ss84023989 Dec 15, 2007 (130)
14 HGSV ss84892428 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss91877569 Mar 24, 2008 (129)
16 HUMANGENOME_JCVI ss96092651 Feb 05, 2009 (130)
17 BGI ss106219099 Feb 05, 2009 (130)
18 1000GENOMES ss112551528 Jan 25, 2009 (130)
19 1000GENOMES ss114036123 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117362093 Feb 14, 2009 (130)
21 KRIBB_YJKIM ss119342441 Dec 01, 2009 (131)
22 ENSEMBL ss138335211 Dec 01, 2009 (131)
23 ENSEMBL ss142717958 Dec 01, 2009 (131)
24 ILLUMINA ss153545765 Dec 01, 2009 (131)
25 GMI ss157034683 Dec 01, 2009 (131)
26 ILLUMINA ss159291048 Dec 01, 2009 (131)
27 ILLUMINA ss160381515 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss167683282 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss168891732 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss171832809 Jul 04, 2010 (132)
31 ILLUMINA ss172611313 Jul 04, 2010 (132)
32 BUSHMAN ss204050470 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss208818485 Jul 04, 2010 (132)
34 1000GENOMES ss228618173 Jul 14, 2010 (132)
35 1000GENOMES ss238022323 Jul 15, 2010 (132)
36 1000GENOMES ss244151680 Jul 15, 2010 (132)
37 BL ss255842593 May 09, 2011 (134)
38 GMI ss283587240 May 04, 2012 (137)
39 GMI ss287550256 Apr 25, 2013 (138)
40 PJP ss292736333 May 09, 2011 (134)
41 ILLUMINA ss480060767 May 04, 2012 (137)
42 ILLUMINA ss480069485 May 04, 2012 (137)
43 ILLUMINA ss480743297 Sep 08, 2015 (146)
44 ILLUMINA ss484828293 May 04, 2012 (137)
45 ILLUMINA ss536904416 Sep 08, 2015 (146)
46 TISHKOFF ss566560822 Apr 25, 2013 (138)
47 SSMP ss662483783 Apr 25, 2013 (138)
48 ILLUMINA ss778695192 Sep 08, 2015 (146)
49 ILLUMINA ss782860716 Sep 08, 2015 (146)
50 ILLUMINA ss783825056 Sep 08, 2015 (146)
51 ILLUMINA ss832114736 Sep 08, 2015 (146)
52 ILLUMINA ss832803159 Jul 13, 2019 (153)
53 ILLUMINA ss834154007 Sep 08, 2015 (146)
54 EVA-GONL ss995222858 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1082570500 Aug 21, 2014 (142)
56 1000GENOMES ss1366683314 Aug 21, 2014 (142)
57 DDI ss1429219801 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1579704291 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1639754053 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1682748086 Apr 01, 2015 (144)
61 EVA_DECODE ss1699291962 Apr 01, 2015 (144)
62 EVA_SVP ss1713731256 Apr 01, 2015 (144)
63 ILLUMINA ss1752413991 Sep 08, 2015 (146)
64 HAMMER_LAB ss1809734008 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1938784445 Feb 12, 2016 (147)
66 ILLUMINA ss1946577681 Feb 12, 2016 (147)
67 ILLUMINA ss1959965739 Feb 12, 2016 (147)
68 GENOMED ss1969246886 Jul 19, 2016 (147)
69 JJLAB ss2030165246 Sep 14, 2016 (149)
70 ILLUMINA ss2095120968 Dec 20, 2016 (150)
71 USC_VALOUEV ss2158775200 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2246457452 Dec 20, 2016 (150)
73 TOPMED ss2413284349 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2629580772 Nov 08, 2017 (151)
75 ILLUMINA ss2633862801 Nov 08, 2017 (151)
76 ILLUMINA ss2633862802 Nov 08, 2017 (151)
77 ILLUMINA ss2635110822 Nov 08, 2017 (151)
78 GRF ss2704518151 Nov 08, 2017 (151)
79 ILLUMINA ss2710952884 Nov 08, 2017 (151)
80 GNOMAD ss2972986842 Nov 08, 2017 (151)
81 SWEGEN ss3019086450 Nov 08, 2017 (151)
82 ILLUMINA ss3022171926 Nov 08, 2017 (151)
83 BIOINF_KMB_FNS_UNIBA ss3028920338 Nov 08, 2017 (151)
84 CSHL ss3352776517 Nov 08, 2017 (151)
85 TOPMED ss3374062370 Nov 08, 2017 (151)
86 TOPMED ss3374062371 Nov 08, 2017 (151)
87 ILLUMINA ss3625799497 Oct 12, 2018 (152)
88 ILLUMINA ss3628506044 Oct 12, 2018 (152)
89 ILLUMINA ss3631815183 Oct 12, 2018 (152)
90 ILLUMINA ss3633268874 Oct 12, 2018 (152)
91 ILLUMINA ss3633984265 Oct 12, 2018 (152)
92 ILLUMINA ss3634860964 Oct 12, 2018 (152)
93 ILLUMINA ss3635668901 Oct 12, 2018 (152)
94 ILLUMINA ss3636556597 Oct 12, 2018 (152)
95 ILLUMINA ss3637421095 Oct 12, 2018 (152)
96 ILLUMINA ss3638374457 Oct 12, 2018 (152)
97 ILLUMINA ss3640568265 Oct 12, 2018 (152)
98 ILLUMINA ss3643334864 Oct 12, 2018 (152)
99 ILLUMINA ss3644796344 Oct 12, 2018 (152)
100 OMUKHERJEE_ADBS ss3646561249 Oct 12, 2018 (152)
101 URBANLAB ss3651151893 Oct 12, 2018 (152)
102 ILLUMINA ss3652633479 Oct 12, 2018 (152)
103 EGCUT_WGS ss3685618971 Jul 13, 2019 (153)
104 EVA_DECODE ss3707955060 Jul 13, 2019 (153)
105 ACPOP ss3743823322 Jul 13, 2019 (153)
106 ILLUMINA ss3744205035 Jul 13, 2019 (153)
107 ILLUMINA ss3745160795 Jul 13, 2019 (153)
108 EVA ss3759230988 Jul 13, 2019 (153)
109 PAGE_CC ss3772082298 Jul 13, 2019 (153)
110 ILLUMINA ss3772656778 Jul 13, 2019 (153)
111 PACBIO ss3788793376 Jul 13, 2019 (153)
112 PACBIO ss3793664466 Jul 13, 2019 (153)
113 PACBIO ss3798550791 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3822398873 Jul 13, 2019 (153)
115 EVA ss3835927823 Apr 27, 2020 (154)
116 EVA ss3841592417 Apr 27, 2020 (154)
117 EVA ss3847107077 Apr 27, 2020 (154)
118 SGDP_PRJ ss3890256898 Apr 27, 2020 (154)
119 KRGDB ss3940640500 Apr 27, 2020 (154)
120 KOGIC ss3983389772 Apr 27, 2020 (154)
121 FSA-LAB ss3984229808 Apr 26, 2021 (155)
122 EVA ss3984758339 Apr 26, 2021 (155)
123 EVA ss3986086725 Apr 26, 2021 (155)
124 TOPMED ss5105109779 Apr 26, 2021 (155)
125 TOMMO_GENOMICS ss5232040779 Apr 26, 2021 (155)
126 1000Genomes NC_000022.10 - 19957023 Oct 12, 2018 (152)
127 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19957023 Oct 12, 2018 (152)
128 Genetic variation in the Estonian population NC_000022.10 - 19957023 Oct 12, 2018 (152)
129 The Danish reference pan genome NC_000022.10 - 19957023 Apr 27, 2020 (154)
130 gnomAD - Genomes NC_000022.11 - 19969500 Apr 26, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000022.10 - 19957023 Apr 27, 2020 (154)
132 HapMap NC_000022.11 - 19969500 Apr 27, 2020 (154)
133 KOREAN population from KRGDB NC_000022.10 - 19957023 Apr 27, 2020 (154)
134 Korean Genome Project NC_000022.11 - 19969500 Apr 27, 2020 (154)
135 Northern Sweden NC_000022.10 - 19957023 Jul 13, 2019 (153)
136 The PAGE Study NC_000022.11 - 19969500 Jul 13, 2019 (153)
137 CNV burdens in cranial meningiomas NC_000022.10 - 19957023 Apr 26, 2021 (155)
138 Qatari NC_000022.10 - 19957023 Apr 27, 2020 (154)
139 SGDP_PRJ NC_000022.10 - 19957023 Apr 27, 2020 (154)
140 Siberian NC_000022.10 - 19957023 Apr 27, 2020 (154)
141 8.3KJPN NC_000022.10 - 19957023 Apr 26, 2021 (155)
142 TopMed NC_000022.11 - 19969500 Apr 26, 2021 (155)
143 UK 10K study - Twins NC_000022.10 - 19957023 Oct 12, 2018 (152)
144 A Vietnamese Genetic Variation Database NC_000022.10 - 19957023 Jul 13, 2019 (153)
145 ALFA NC_000022.11 - 19969500 Apr 26, 2021 (155)
146 ClinVar RCV001029662.1 Apr 27, 2020 (154)
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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).

Associated ID History Updated (Build)
rs59845570 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47817894, ss3940640500 NC_000022.10:19957022:C:A NC_000022.11:19969499:C:A (self)
47817894, ss3940640500 NC_000022.10:19957022:C:G NC_000022.11:19969499:C:G (self)
7479423443, ss3374062370 NC_000022.11:19969499:C:G NC_000022.11:19969499:C:G (self)
ss77739667, ss84023989, ss84892428 NC_000022.8:18331576:C:T NC_000022.11:19969499:C:T (self)
ss91877569, ss112551528, ss114036123, ss117362093, ss167683282, ss168891732, ss171832809, ss204050470, ss208818485, ss255842593, ss283587240, ss287550256, ss292736333, ss480060767, ss1699291962, ss1713731256, ss2635110822, ss3643334864 NC_000022.9:18337022:C:T NC_000022.11:19969499:C:T (self)
80217750, 44382128, 31357219, 5869230, 19773961, 47817894, 17108187, 307920, 20826367, 42273878, 11291554, 90010086, 44382128, 9792563, ss228618173, ss238022323, ss244151680, ss480069485, ss480743297, ss484828293, ss536904416, ss566560822, ss662483783, ss778695192, ss782860716, ss783825056, ss832114736, ss832803159, ss834154007, ss995222858, ss1082570500, ss1366683314, ss1429219801, ss1579704291, ss1639754053, ss1682748086, ss1752413991, ss1809734008, ss1938784445, ss1946577681, ss1959965739, ss1969246886, ss2030165246, ss2095120968, ss2158775200, ss2413284349, ss2629580772, ss2633862801, ss2633862802, ss2704518151, ss2710952884, ss2972986842, ss3019086450, ss3022171926, ss3352776517, ss3625799497, ss3628506044, ss3631815183, ss3633268874, ss3633984265, ss3634860964, ss3635668901, ss3636556597, ss3637421095, ss3638374457, ss3640568265, ss3644796344, ss3646561249, ss3652633479, ss3685618971, ss3743823322, ss3744205035, ss3745160795, ss3759230988, ss3772656778, ss3788793376, ss3793664466, ss3798550791, ss3835927823, ss3841592417, ss3890256898, ss3940640500, ss3984229808, ss3984758339, ss3986086725, ss5232040779 NC_000022.10:19957022:C:T NC_000022.11:19969499:C:T (self)
RCV001029662.1, 566545264, 2227958, 39767773, 1303767, 237444548, 380218726, 7479423443, ss2246457452, ss3028920338, ss3374062371, ss3651151893, ss3707955060, ss3772082298, ss3822398873, ss3847107077, ss3983389772, ss5105109779 NC_000022.11:19969499:C:T NC_000022.11:19969499:C:T (self)
ss232578, ss459063, ss548085, ss1058130, ss1750416, ss6311523, ss12673796, ss16919863, ss21852391, ss48292717, ss75263672, ss96092651, ss106219099, ss119342441, ss138335211, ss142717958, ss153545765, ss157034683, ss159291048, ss160381515, ss172611313 NT_011519.10:3109172:C:T NC_000022.11:19969499: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.

8 citations for rs165728
PMID Title Author Year Journal
16848906 Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans. Kim H et al. 2006 Molecular pain
16882734 Genetic predictors for acute experimental cold and heat pain sensitivity in humans. Kim H et al. 2006 Journal of medical genetics
18574484 The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Mukherjee N et al. 2010 Molecular psychiatry
19015200 Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. Freedman ND et al. 2009 Carcinogenesis
19094200 Genetic variation in the catechol-O-methyltransferase (COMT) gene and morphine requirements in cancer patients with pain. Rakvåg TT et al. 2008 Molecular pain
19673036 Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population. Pal P et al. 2009 Croatian medical journal
23766564 Pharmacogenetics of chronic pain and its treatment. Světlík S et al. 2013 Mediators of inflammation
32533012 Genetic variations in catechol-O-methyltransferase gene are associated with levodopa response variability in Chinese patients with Parkinson's disease. Zhao C et al. 2020 Scientific reports
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.post676+237644a