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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.

rs1544325

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:19944145 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.358669 (94936/264690, TOPMED)
A=0.406123 (84364/207730, ALFA)
A=0.377659 (52830/139888, GnomAD) (+ 18 more)
A=0.30137 (5051/16760, 8.3KJPN)
A=0.3145 (1575/5008, 1000G)
A=0.4730 (2119/4480, Estonian)
A=0.4424 (1705/3854, ALSPAC)
A=0.4218 (1564/3708, TWINSUK)
A=0.2801 (820/2928, KOREAN)
A=0.3560 (742/2084, HGDP_Stanford)
A=0.2847 (537/1886, HapMap)
A=0.2746 (503/1832, Korea1K)
A=0.3732 (421/1128, Daghestan)
A=0.441 (440/998, GoNL)
A=0.482 (289/600, NorthernSweden)
A=0.254 (116/456, SGDP_PRJ)
A=0.426 (92/216, Qatari)
A=0.23 (14/60, Ancient Sardinia)
A=0.28 (13/46, Siberian)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COMT : Intron Variant
Publications
11 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 207730 A=0.406123 G=0.593877
European Sub 174184 A=0.420245 G=0.579755
African Sub 10404 A=0.27537 G=0.72463
African Others Sub 360 A=0.236 G=0.764
African American Sub 10044 A=0.27678 G=0.72322
Asian Sub 752 A=0.274 G=0.726
East Asian Sub 574 A=0.305 G=0.695
Other Asian Sub 178 A=0.174 G=0.826
Latin American 1 Sub 990 A=0.381 G=0.619
Latin American 2 Sub 9030 A=0.3495 G=0.6505
South Asian Sub 5056 A=0.3582 G=0.6418
Other Sub 7314 A=0.3759 G=0.6241


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 264690 A=0.358669 G=0.641331
Allele Frequency Aggregator Total Global 207730 A=0.406123 G=0.593877
Allele Frequency Aggregator European Sub 174184 A=0.420245 G=0.579755
Allele Frequency Aggregator African Sub 10404 A=0.27537 G=0.72463
Allele Frequency Aggregator Latin American 2 Sub 9030 A=0.3495 G=0.6505
Allele Frequency Aggregator Other Sub 7314 A=0.3759 G=0.6241
Allele Frequency Aggregator South Asian Sub 5056 A=0.3582 G=0.6418
Allele Frequency Aggregator Latin American 1 Sub 990 A=0.381 G=0.619
Allele Frequency Aggregator Asian Sub 752 A=0.274 G=0.726
gnomAD - Genomes Global Study-wide 139888 A=0.377659 G=0.622341
gnomAD - Genomes European Sub 75762 A=0.45100 G=0.54900
gnomAD - Genomes African Sub 41912 A=0.27555 G=0.72445
gnomAD - Genomes American Sub 13624 A=0.33228 G=0.66772
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2869 G=0.7131
gnomAD - Genomes East Asian Sub 3118 A=0.2880 G=0.7120
gnomAD - Genomes Other Sub 2150 A=0.3414 G=0.6586
8.3KJPN JAPANESE Study-wide 16760 A=0.30137 G=0.69863
1000Genomes Global Study-wide 5008 A=0.3145 G=0.6855
1000Genomes African Sub 1322 A=0.2307 G=0.7693
1000Genomes East Asian Sub 1008 A=0.2798 G=0.7202
1000Genomes Europe Sub 1006 A=0.4135 G=0.5865
1000Genomes South Asian Sub 978 A=0.352 G=0.648
1000Genomes American Sub 694 A=0.329 G=0.671
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4730 G=0.5270
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4424 G=0.5576
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4218 G=0.5782
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.2801 C=0.0000, G=0.7199, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.3560 G=0.6440
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.315 G=0.685
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.425 G=0.575
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.366 G=0.634
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.428 G=0.572
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.219 G=0.781
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.329 G=0.671
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.40 G=0.60
HapMap Global Study-wide 1886 A=0.2847 G=0.7153
HapMap American Sub 768 A=0.350 G=0.650
HapMap African Sub 690 A=0.196 G=0.804
HapMap Asian Sub 252 A=0.270 G=0.730
HapMap Europe Sub 176 A=0.369 G=0.631
Korean Genome Project KOREAN Study-wide 1832 A=0.2746 G=0.7254
Genome-wide autozygosity in Daghestan Global Study-wide 1128 A=0.3732 G=0.6268
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.373 G=0.627
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.375 G=0.625
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.402 G=0.598
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.361 G=0.639
Genome-wide autozygosity in Daghestan South Asian Sub 94 A=0.33 G=0.67
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.42 G=0.58
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.441 G=0.559
Northern Sweden ACPOP Study-wide 600 A=0.482 G=0.518
SGDP_PRJ Global Study-wide 456 A=0.254 G=0.746
Qatari Global Study-wide 216 A=0.426 G=0.574
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 A=0.23 G=0.77
Siberian Global Study-wide 46 A=0.28 G=0.72
The Danish reference pan genome Danish Study-wide 40 A=0.50 G=0.50
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.19944145A>C
GRCh38.p13 chr 22 NC_000022.11:g.19944145A>G
GRCh38.p13 chr 22 NC_000022.11:g.19944145A>T
GRCh37.p13 chr 22 NC_000022.10:g.19931668A>C
GRCh37.p13 chr 22 NC_000022.10:g.19931668A>G
GRCh37.p13 chr 22 NC_000022.10:g.19931668A>T
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.2692T>G
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.2692T>C
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.2692T>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.7406A>C
COMT RefSeqGene (LRG_1010) NG_011526.1:g.7406A>G
COMT RefSeqGene (LRG_1010) NG_011526.1:g.7406A>T
Gene: COMT, catechol-O-methyltransferase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COMT transcript variant 1 NM_000754.4:c.-92+2248A>C N/A Intron Variant
COMT transcript variant 5 NM_001362828.2:c.-386+224…

NM_001362828.2:c.-386+2248A>C

N/A Intron Variant
COMT transcript variant 2 NM_001135161.2:c. N/A Genic Upstream Transcript Variant
COMT transcript variant 3 NM_001135162.2:c. N/A Genic Upstream Transcript Variant
COMT transcript variant 4 NM_007310.3:c. N/A Genic Upstream 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.

Not Reported in ClinVar
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= C G T
GRCh38.p13 chr 22 NC_000022.11:g.19944145= NC_000022.11:g.19944145A>C NC_000022.11:g.19944145A>G NC_000022.11:g.19944145A>T
GRCh37.p13 chr 22 NC_000022.10:g.19931668= NC_000022.10:g.19931668A>C NC_000022.10:g.19931668A>G NC_000022.10:g.19931668A>T
TXNRD2 RefSeqGene (LRG_417) NG_011835.1:g.2692= NG_011835.1:g.2692T>G NG_011835.1:g.2692T>C NG_011835.1:g.2692T>A
COMT RefSeqGene (LRG_1010) NG_011526.1:g.7406= NG_011526.1:g.7406A>C NG_011526.1:g.7406A>G NG_011526.1:g.7406A>T
COMT transcript variant 1 NM_000754.3:c.-92+2248= NM_000754.3:c.-92+2248A>C NM_000754.3:c.-92+2248A>G NM_000754.3:c.-92+2248A>T
COMT transcript variant 1 NM_000754.4:c.-92+2248= NM_000754.4:c.-92+2248A>C NM_000754.4:c.-92+2248A>G NM_000754.4:c.-92+2248A>T
COMT transcript variant 5 NM_001362828.2:c.-386+2248= NM_001362828.2:c.-386+2248A>C NM_001362828.2:c.-386+2248A>G NM_001362828.2:c.-386+2248A>T
COMT transcript variant X1 XM_005261229.1:c.-386+2248= XM_005261229.1:c.-386+2248A>C XM_005261229.1:c.-386+2248A>G XM_005261229.1:c.-386+2248A>T
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#.

116 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2386502 Oct 23, 2000 (88)
2 SC_SNP ss7994502 Apr 21, 2003 (114)
3 BCM_SSAHASNP ss11003361 Jul 11, 2003 (116)
4 WI_SSAHASNP ss12526806 Jul 11, 2003 (116)
5 SC_SNP ss13346892 Dec 05, 2003 (120)
6 ABI ss44309374 Mar 13, 2006 (126)
7 KRIBB_YJKIM ss65826824 Nov 30, 2006 (127)
8 ILLUMINA ss66608185 Nov 30, 2006 (127)
9 ILLUMINA ss67129718 Nov 30, 2006 (127)
10 ILLUMINA ss67469198 Nov 30, 2006 (127)
11 ILLUMINA ss70441915 May 17, 2007 (127)
12 ILLUMINA ss70630798 May 26, 2008 (130)
13 ILLUMINA ss71180796 May 17, 2007 (127)
14 ILLUMINA ss75440946 Dec 06, 2007 (129)
15 AFFY ss76799548 Dec 06, 2007 (129)
16 HGSV ss83721564 Dec 16, 2007 (130)
17 KRIBB_YJKIM ss83826940 Dec 16, 2007 (130)
18 BCMHGSC_JDW ss91877469 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss96114933 Feb 06, 2009 (130)
20 SNP500CANCER ss105439163 Feb 06, 2009 (130)
21 1000GENOMES ss112551339 Jan 25, 2009 (130)
22 1000GENOMES ss114035747 Jan 25, 2009 (130)
23 ILLUMINA-UK ss117362001 Feb 14, 2009 (130)
24 ILLUMINA ss121744729 Dec 01, 2009 (131)
25 ENSEMBL ss138335163 Dec 01, 2009 (131)
26 ENSEMBL ss142864962 Dec 01, 2009 (131)
27 ILLUMINA ss153504951 Dec 01, 2009 (131)
28 GMI ss157034319 Dec 01, 2009 (131)
29 ILLUMINA ss159283007 Dec 01, 2009 (131)
30 ILLUMINA ss160370019 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss167682600 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss168890967 Jul 04, 2010 (132)
33 ILLUMINA ss170630725 Jul 04, 2010 (132)
34 ILLUMINA ss172570584 Jul 04, 2010 (132)
35 BUSHMAN ss204050390 Jul 04, 2010 (132)
36 1000GENOMES ss228618065 Jul 14, 2010 (132)
37 1000GENOMES ss238022248 Jul 15, 2010 (132)
38 1000GENOMES ss244151616 Jul 15, 2010 (132)
39 ILLUMINA ss244280049 Jul 04, 2010 (132)
40 BL ss255842432 May 09, 2011 (134)
41 GMI ss283587134 May 04, 2012 (137)
42 GMI ss287550204 Apr 25, 2013 (138)
43 PJP ss292736271 May 09, 2011 (134)
44 ILLUMINA ss480025518 May 04, 2012 (137)
45 ILLUMINA ss480034340 May 04, 2012 (137)
46 ILLUMINA ss480697516 Sep 08, 2015 (146)
47 ILLUMINA ss484810954 May 04, 2012 (137)
48 ILLUMINA ss536891116 Sep 08, 2015 (146)
49 TISHKOFF ss566560665 Apr 25, 2013 (138)
50 SSMP ss662483634 Apr 25, 2013 (138)
51 ILLUMINA ss779034026 Sep 08, 2015 (146)
52 ILLUMINA ss782852039 Sep 08, 2015 (146)
53 ILLUMINA ss783816559 Sep 08, 2015 (146)
54 ILLUMINA ss825410899 Apr 01, 2015 (144)
55 ILLUMINA ss832105930 Sep 08, 2015 (146)
56 ILLUMINA ss832795140 Jul 13, 2019 (153)
57 ILLUMINA ss834496783 Sep 08, 2015 (146)
58 EVA-GONL ss995222600 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1082570352 Aug 21, 2014 (142)
60 1000GENOMES ss1366682467 Aug 21, 2014 (142)
61 HAMMER_LAB ss1397782490 Sep 08, 2015 (146)
62 DDI ss1429219722 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1579704203 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1639753648 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1682747681 Apr 01, 2015 (144)
66 EVA_DECODE ss1699291719 Apr 01, 2015 (144)
67 EVA_SVP ss1713731231 Apr 01, 2015 (144)
68 ILLUMINA ss1752413947 Sep 08, 2015 (146)
69 HAMMER_LAB ss1809733902 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1938784190 Feb 12, 2016 (147)
71 GENOMED ss1969246846 Jul 19, 2016 (147)
72 JJLAB ss2030165119 Sep 14, 2016 (149)
73 USC_VALOUEV ss2158775033 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2246455715 Dec 20, 2016 (150)
75 TOPMED ss2413282570 Dec 20, 2016 (150)
76 SYSTEMSBIOZJU ss2629580691 Nov 08, 2017 (151)
77 ILLUMINA ss2633862730 Nov 08, 2017 (151)
78 GRF ss2704517974 Nov 08, 2017 (151)
79 GNOMAD ss2972984468 Nov 08, 2017 (151)
80 AFFY ss2985850623 Nov 08, 2017 (151)
81 SWEGEN ss3019086032 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3028920260 Nov 08, 2017 (151)
83 CSHL ss3352776392 Nov 08, 2017 (151)
84 TOPMED ss3374057107 Nov 08, 2017 (151)
85 ILLUMINA ss3628505961 Oct 12, 2018 (152)
86 ILLUMINA ss3631815136 Oct 12, 2018 (152)
87 ILLUMINA ss3633268843 Oct 12, 2018 (152)
88 ILLUMINA ss3633984231 Oct 12, 2018 (152)
89 ILLUMINA ss3634860919 Oct 12, 2018 (152)
90 ILLUMINA ss3635668870 Oct 12, 2018 (152)
91 ILLUMINA ss3636556554 Oct 12, 2018 (152)
92 ILLUMINA ss3637421061 Oct 12, 2018 (152)
93 ILLUMINA ss3638374416 Oct 12, 2018 (152)
94 ILLUMINA ss3639191041 Oct 12, 2018 (152)
95 ILLUMINA ss3639611677 Oct 12, 2018 (152)
96 ILLUMINA ss3640568220 Oct 12, 2018 (152)
97 ILLUMINA ss3643334827 Oct 12, 2018 (152)
98 URBANLAB ss3651151821 Oct 12, 2018 (152)
99 EGCUT_WGS ss3685618583 Jul 13, 2019 (153)
100 EVA_DECODE ss3707954589 Jul 13, 2019 (153)
101 ACPOP ss3743823097 Jul 13, 2019 (153)
102 ILLUMINA ss3745160751 Jul 13, 2019 (153)
103 EVA ss3759230703 Jul 13, 2019 (153)
104 ILLUMINA ss3772656735 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3822398604 Jul 13, 2019 (153)
106 EVA ss3835927696 Apr 27, 2020 (154)
107 EVA ss3841592353 Apr 27, 2020 (154)
108 EVA ss3847107010 Apr 27, 2020 (154)
109 HGDP ss3847684682 Apr 27, 2020 (154)
110 SGDP_PRJ ss3890256437 Apr 27, 2020 (154)
111 KRGDB ss3940639914 Apr 27, 2020 (154)
112 KOGIC ss3983389267 Apr 27, 2020 (154)
113 EVA ss3985910167 Apr 26, 2021 (155)
114 EVA ss4017873633 Apr 26, 2021 (155)
115 TOPMED ss5105102925 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5232039729 Apr 26, 2021 (155)
117 1000Genomes NC_000022.10 - 19931668 Oct 12, 2018 (152)
118 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19931668 Oct 12, 2018 (152)
119 Genome-wide autozygosity in Daghestan NC_000022.9 - 18311668 Apr 27, 2020 (154)
120 Genetic variation in the Estonian population NC_000022.10 - 19931668 Oct 12, 2018 (152)
121 The Danish reference pan genome NC_000022.10 - 19931668 Apr 27, 2020 (154)
122 gnomAD - Genomes NC_000022.11 - 19944145 Apr 26, 2021 (155)
123 Genome of the Netherlands Release 5 NC_000022.10 - 19931668 Apr 27, 2020 (154)
124 HGDP-CEPH-db Supplement 1 NC_000022.9 - 18311668 Apr 27, 2020 (154)
125 HapMap NC_000022.11 - 19944145 Apr 27, 2020 (154)
126 KOREAN population from KRGDB NC_000022.10 - 19931668 Apr 27, 2020 (154)
127 Korean Genome Project NC_000022.11 - 19944145 Apr 27, 2020 (154)
128 Northern Sweden NC_000022.10 - 19931668 Jul 13, 2019 (153)
129 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 19931668 Apr 26, 2021 (155)
130 Qatari NC_000022.10 - 19931668 Apr 27, 2020 (154)
131 SGDP_PRJ NC_000022.10 - 19931668 Apr 27, 2020 (154)
132 Siberian NC_000022.10 - 19931668 Apr 27, 2020 (154)
133 8.3KJPN NC_000022.10 - 19931668 Apr 26, 2021 (155)
134 TopMed NC_000022.11 - 19944145 Apr 26, 2021 (155)
135 UK 10K study - Twins NC_000022.10 - 19931668 Oct 12, 2018 (152)
136 ALFA NC_000022.11 - 19944145 Apr 26, 2021 (155)
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).

Associated ID History Updated (Build)
rs9606191 Feb 27, 2004 (120)
rs61471867 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47817308, ss3940639914 NC_000022.10:19931667:A:C NC_000022.11:19944144:A:C (self)
ss83721564, ss3639191041, ss3639611677 NC_000022.8:18306221:A:G NC_000022.11:19944144:A:G (self)
296488, 362574, ss76799548, ss91877469, ss112551339, ss114035747, ss117362001, ss167682600, ss168890967, ss204050390, ss255842432, ss283587134, ss287550204, ss292736271, ss480025518, ss825410899, ss1397782490, ss1699291719, ss1713731231, ss3643334827, ss3847684682 NC_000022.9:18311667:A:G NC_000022.11:19944144:A:G (self)
80216880, 44381683, 31356831, 5869142, 19773720, 47817308, 17107962, 1136094, 20826112, 42273417, 11291387, 90009036, 44381683, ss228618065, ss238022248, ss244151616, ss480034340, ss480697516, ss484810954, ss536891116, ss566560665, ss662483634, ss779034026, ss782852039, ss783816559, ss832105930, ss832795140, ss834496783, ss995222600, ss1082570352, ss1366682467, ss1429219722, ss1579704203, ss1639753648, ss1682747681, ss1752413947, ss1809733902, ss1938784190, ss1969246846, ss2030165119, ss2158775033, ss2413282570, ss2629580691, ss2633862730, ss2704517974, ss2972984468, ss2985850623, ss3019086032, ss3352776392, ss3628505961, ss3631815136, ss3633268843, ss3633984231, ss3634860919, ss3635668870, ss3636556554, ss3637421061, ss3638374416, ss3640568220, ss3685618583, ss3743823097, ss3745160751, ss3759230703, ss3772656735, ss3835927696, ss3841592353, ss3890256437, ss3940639914, ss3985910167, ss4017873633, ss5232039729 NC_000022.10:19931667:A:G NC_000022.11:19944144:A:G (self)
566539271, 2227915, 39767268, 237440158, 380211872, 7456031479, ss2246455715, ss3028920260, ss3374057107, ss3651151821, ss3707954589, ss3822398604, ss3847107010, ss3983389267, ss5105102925 NC_000022.11:19944144:A:G NC_000022.11:19944144:A:G (self)
ss2386502, ss7994502, ss11003361, ss12526806, ss13346892, ss44309374, ss65826824, ss66608185, ss67129718, ss67469198, ss70441915, ss70630798, ss71180796, ss75440946, ss83826940, ss96114933, ss105439163, ss121744729, ss138335163, ss142864962, ss153504951, ss157034319, ss159283007, ss160370019, ss170630725, ss172570584, ss244280049 NT_011519.10:3083817:A:G NC_000022.11:19944144:A:G (self)
47817308, ss3940639914 NC_000022.10:19931667:A:T NC_000022.11:19944144: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.

11 citations for rs1544325
PMID Title Author Year Journal
18663369 Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR). Strug LJ et al. 2010 Molecular psychiatry
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
20150638 Association of COMT haplotypes and breast cancer risk in caucasian women. Peterson NB et al. 2010 Anticancer research
20551675 Localizing putative markers in genetic association studies by incorporating linkage disequilibrium into bayesian hierarchical models. Fridley BL et al. 2010 Human heredity
21857968 Role of novelty seeking personality traits as mediator of the association between COMT and onset age of drug use in Chinese heroin dependent patients. Li T et al. 2011 PloS one
22021758 Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort. Nyman ES et al. 2011 BMJ open
22337325 The effect of catechol-O-methyltransferase polymorphisms on pain is modified by depressive symptoms. Schwahn C et al. 2012 European journal of pain (London, England)
22963930 Custom genotyping for substance addiction susceptibility genes in Jordanians of Arab descent. Al-Eitan LN et al. 2012 BMC research notes
23963787 Complex multilocus effects of catechol-O-methyltransferase haplotypes predict pain and pain interference 6 weeks after motor vehicle collision. Bortsov AV et al. 2014 Neuromolecular medicine
26282453 Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population. Xu Q et al. 2016 The pharmacogenomics journal
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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).
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