Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs6323

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chrX:43731789 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.264593 (70035/264690, TOPMED)
G=0.294570 (68716/233276, ALFA)
G=0.349975 (64001/182873, GnomAD_exome) (+ 14 more)
G=0.34707 (30346/87434, ExAC)
T=0.41416 (5319/12843, 8.3KJPN)
G=0.24150 (2551/10563, GO-ESP)
G=0.3751 (1416/3775, 1000G)
G=0.2907 (1078/3708, TWINSUK)
T=0.4412 (1291/2926, KOREAN)
G=0.3015 (871/2889, ALSPAC)
G=0.3319 (628/1892, HapMap)
G=0.262 (140/534, MGP)
G=0.113 (43/380, SGDP_PRJ)
T=0.426 (63/148, Vietnamese)
G=0.194 (21/108, Qatari)
G=0.20 (8/40, GENOME_DK)
G=0.22 (8/36, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MAOA : Synonymous Variant
Publications
39 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 233276 G=0.294570 T=0.705430
European Sub 202308 G=0.293953 T=0.706047
African Sub 9197 G=0.1527 T=0.8473
African Others Sub 316 G=0.120 T=0.880
African American Sub 8881 G=0.1538 T=0.8462
Asian Sub 3970 G=0.5733 T=0.4267
East Asian Sub 3176 G=0.5926 T=0.4074
Other Asian Sub 794 G=0.496 T=0.504
Latin American 1 Sub 1104 G=0.2418 T=0.7582
Latin American 2 Sub 6732 G=0.3038 T=0.6962
South Asian Sub 378 G=0.638 T=0.362
Other Sub 9587 G=0.3144 T=0.6856


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 G=0.264593 T=0.735407
Allele Frequency Aggregator Total Global 233276 G=0.294570 T=0.705430
Allele Frequency Aggregator European Sub 202308 G=0.293953 T=0.706047
Allele Frequency Aggregator Other Sub 9587 G=0.3144 T=0.6856
Allele Frequency Aggregator African Sub 9197 G=0.1527 T=0.8473
Allele Frequency Aggregator Latin American 2 Sub 6732 G=0.3038 T=0.6962
Allele Frequency Aggregator Asian Sub 3970 G=0.5733 T=0.4267
Allele Frequency Aggregator Latin American 1 Sub 1104 G=0.2418 T=0.7582
Allele Frequency Aggregator South Asian Sub 378 G=0.638 T=0.362
gnomAD - Exomes Global Study-wide 182873 G=0.349975 T=0.650025
gnomAD - Exomes European Sub 97468 G=0.31056 T=0.68944
gnomAD - Exomes Asian Sub 32873 G=0.58826 T=0.41174
gnomAD - Exomes American Sub 27387 G=0.32198 T=0.67802
gnomAD - Exomes African Sub 13154 G=0.14558 T=0.85442
gnomAD - Exomes Ashkenazi Jewish Sub 7474 G=0.2893 T=0.7107
gnomAD - Exomes Other Sub 4517 G=0.3316 T=0.6684
ExAC Global Study-wide 87434 G=0.34707 T=0.65293
ExAC Europe Sub 52346 G=0.30593 T=0.69407
ExAC Asian Sub 16669 G=0.58492 T=0.41508
ExAC American Sub 9284 G=0.3318 T=0.6682
ExAC African Sub 8507 G=0.1496 T=0.8504
ExAC Other Sub 628 G=0.365 T=0.635
8.3KJPN JAPANESE Study-wide 12843 G=0.58584 T=0.41416
GO Exome Sequencing Project Global Study-wide 10563 G=0.24150 T=0.75850
GO Exome Sequencing Project European American Sub 6728 G=0.2955 T=0.7045
GO Exome Sequencing Project African American Sub 3835 G=0.1468 T=0.8532
1000Genomes Global Study-wide 3775 G=0.3751 T=0.6249
1000Genomes African Sub 1003 G=0.1376 T=0.8624
1000Genomes Europe Sub 766 G=0.287 T=0.713
1000Genomes East Asian Sub 764 G=0.575 T=0.425
1000Genomes South Asian Sub 718 G=0.648 T=0.352
1000Genomes American Sub 524 G=0.294 T=0.706
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2907 T=0.7093
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.5588 T=0.4412
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 G=0.3015 T=0.6985
HapMap Global Study-wide 1892 G=0.3319 T=0.6681
HapMap American Sub 770 G=0.430 T=0.570
HapMap African Sub 692 G=0.137 T=0.863
HapMap Asian Sub 254 G=0.583 T=0.417
HapMap Europe Sub 176 G=0.307 T=0.693
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.262 T=0.738
SGDP_PRJ Global Study-wide 380 G=0.113 T=0.887
A Vietnamese Genetic Variation Database Global Study-wide 148 G=0.574 T=0.426
Qatari Global Study-wide 108 G=0.194 T=0.806
The Danish reference pan genome Danish Study-wide 40 G=0.20 T=0.80
Siberian Global Study-wide 36 G=0.22 T=0.78
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 X NC_000023.11:g.43731789G>T
GRCh37.p13 chr X NC_000023.10:g.43591036G>T
MAOA RefSeqGene NG_008957.2:g.80629G>T
Gene: MAOA, monoamine oxidase A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MAOA transcript variant 1 NM_000240.4:c.891G>T R [CGG] > R [CGT] Coding Sequence Variant
amine oxidase [flavin-containing] A isoform 1 NP_000231.1:p.Arg297= R (Arg) > R (Arg) Synonymous Variant
MAOA transcript variant 2 NM_001270458.2:c.492G>T R [CGG] > R [CGT] Coding Sequence Variant
amine oxidase [flavin-containing] A isoform 2 NP_001257387.1:p.Arg164= R (Arg) > R (Arg) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 98571 )
ClinVar Accession Disease Names Clinical Significance
RCV000078415.10 not specified Benign
RCV000715347.1 History of neurodevelopmental disorder Benign
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 G= T
GRCh38.p13 chr X NC_000023.11:g.43731789= NC_000023.11:g.43731789G>T
GRCh37.p13 chr X NC_000023.10:g.43591036= NC_000023.10:g.43591036G>T
MAOA RefSeqGene NG_008957.2:g.80629= NG_008957.2:g.80629G>T
MAOA transcript variant 1 NM_000240.4:c.891= NM_000240.4:c.891G>T
MAOA transcript variant 1 NM_000240.3:c.891= NM_000240.3:c.891G>T
MAOA transcript variant 2 NM_001270458.2:c.492= NM_001270458.2:c.492G>T
MAOA transcript variant 2 NM_001270458.1:c.492= NM_001270458.1:c.492G>T
amine oxidase [flavin-containing] A isoform 1 NP_000231.1:p.Arg297= NP_000231.1:p.Arg297=
amine oxidase [flavin-containing] A isoform 2 NP_001257387.1:p.Arg164= NP_001257387.1:p.Arg164=
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#.

130 SubSNP, 17 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7951 Sep 19, 2000 (52)
2 TSC-CSHL ss3167120 Jun 15, 2001 (96)
3 YUSUKE ss3208017 Sep 28, 2001 (100)
4 SNP500CANCER ss5586751 Jul 02, 2003 (116)
5 SC_SNP ss8491261 Jul 11, 2003 (116)
6 PERLEGEN ss24227250 Sep 20, 2004 (123)
7 ABI ss43700571 Mar 13, 2006 (126)
8 TAPPERS ss70352082 May 16, 2007 (127)
9 ILLUMINA ss74991120 Dec 06, 2007 (129)
10 AFFY ss76733581 Dec 08, 2007 (130)
11 CGM_KYOTO ss76876396 Dec 06, 2007 (129)
12 HGSV ss77744764 Dec 06, 2007 (129)
13 CORNELL ss86237596 Mar 23, 2008 (129)
14 SHGC ss99307781 Feb 04, 2009 (130)
15 1000GENOMES ss112871367 Jan 25, 2009 (130)
16 1000GENOMES ss114663159 Jan 25, 2009 (130)
17 ILLUMINA-UK ss115611375 Feb 04, 2009 (130)
18 KRIBB_YJKIM ss119337833 Dec 01, 2009 (131)
19 ENSEMBL ss133970573 Dec 01, 2009 (131)
20 SEATTLESEQ ss159745303 Dec 01, 2009 (131)
21 ILLUMINA ss160770250 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss163098947 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss164832169 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166214018 Jul 04, 2010 (132)
25 ILLUMINA ss173993204 Jul 04, 2010 (132)
26 BUSHMAN ss204225373 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss208870748 Jul 04, 2010 (132)
28 ILLUMINA ss244304696 Jul 04, 2010 (132)
29 BL ss255983043 May 09, 2011 (134)
30 GMI ss283741979 May 04, 2012 (137)
31 GMI ss287608621 Apr 25, 2013 (138)
32 PJP ss294548262 May 09, 2011 (134)
33 1000GENOMES ss341453349 May 09, 2011 (134)
34 NHLBI-ESP ss342552253 May 09, 2011 (134)
35 ILLUMINA ss481230683 May 04, 2012 (137)
36 ILLUMINA ss481254241 May 04, 2012 (137)
37 ILLUMINA ss482240580 Sep 08, 2015 (146)
38 ILLUMINA ss482853074 May 04, 2012 (137)
39 ILLUMINA ss484377015 May 04, 2012 (137)
40 ILLUMINA ss485410688 May 04, 2012 (137)
41 1000GENOMES ss491199757 May 04, 2012 (137)
42 CLINSEQ_SNP ss491950153 May 04, 2012 (137)
43 ILLUMINA ss535327397 Sep 08, 2015 (146)
44 ILLUMINA ss537344834 Sep 08, 2015 (146)
45 TISHKOFF ss566850869 Apr 25, 2013 (138)
46 SSMP ss662785052 Apr 25, 2013 (138)
47 ILLUMINA ss778938600 Sep 08, 2015 (146)
48 ILLUMINA ss780084150 Sep 08, 2015 (146)
49 ILLUMINA ss781899396 Sep 08, 2015 (146)
50 ILLUMINA ss783150795 Sep 08, 2015 (146)
51 ILLUMINA ss784106761 Sep 08, 2015 (146)
52 ILLUMINA ss832409988 Sep 08, 2015 (146)
53 ILLUMINA ss834400281 Sep 08, 2015 (146)
54 ILLUMINA ss835566244 Sep 08, 2015 (146)
55 JMKIDD_LAB ss974514046 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1067609723 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1082896708 Aug 21, 2014 (142)
58 DDI ss1432035326 Apr 01, 2015 (144)
59 1000GENOMES ss1554248475 Apr 01, 2015 (144)
60 EVA_GENOME_DK ss1583381642 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1640681545 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1683675578 Apr 01, 2015 (144)
63 EVA_EXAC ss1694497106 Apr 01, 2015 (144)
64 EVA_MGP ss1711580318 Apr 01, 2015 (144)
65 ILLUMINA ss1752806996 Sep 08, 2015 (146)
66 WEILL_CORNELL_DGM ss1939306012 Feb 12, 2016 (147)
67 ILLUMINA ss1945972276 Feb 12, 2016 (147)
68 ILLUMINA ss1958190381 Feb 12, 2016 (147)
69 GENOMED ss1971372799 Jul 19, 2016 (147)
70 USC_VALOUEV ss2159035095 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2317050276 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629696773 Nov 08, 2017 (151)
73 ILLUMINA ss2634957214 Nov 08, 2017 (151)
74 ILLUMINA ss2634957215 Nov 08, 2017 (151)
75 ILLUMINA ss2634957216 Nov 08, 2017 (151)
76 ILLUMINA ss2634957217 Nov 08, 2017 (151)
77 ILLUMINA ss2635202236 Nov 08, 2017 (151)
78 GRF ss2710156815 Nov 08, 2017 (151)
79 ILLUMINA ss2711180859 Nov 08, 2017 (151)
80 GNOMAD ss2745367365 Nov 08, 2017 (151)
81 GNOMAD ss2746094787 Nov 08, 2017 (151)
82 GNOMAD ss2978333801 Nov 08, 2017 (151)
83 SWEGEN ss3019897335 Nov 08, 2017 (151)
84 ILLUMINA ss3023004379 Nov 08, 2017 (151)
85 BIOINF_KMB_FNS_UNIBA ss3029042108 Nov 08, 2017 (151)
86 TOPMED ss3609748926 Nov 08, 2017 (151)
87 ILLUMINA ss3625997539 Oct 12, 2018 (152)
88 ILLUMINA ss3630426594 Oct 12, 2018 (152)
89 ILLUMINA ss3630426595 Oct 12, 2018 (152)
90 ILLUMINA ss3632843569 Oct 12, 2018 (152)
91 ILLUMINA ss3632843570 Oct 12, 2018 (152)
92 ILLUMINA ss3633557921 Oct 12, 2018 (152)
93 ILLUMINA ss3634287671 Oct 12, 2018 (152)
94 ILLUMINA ss3635247823 Oct 12, 2018 (152)
95 ILLUMINA ss3635965026 Oct 12, 2018 (152)
96 ILLUMINA ss3636996380 Oct 12, 2018 (152)
97 ILLUMINA ss3637718492 Oct 12, 2018 (152)
98 ILLUMINA ss3638856340 Oct 12, 2018 (152)
99 ILLUMINA ss3640955306 Oct 12, 2018 (152)
100 ILLUMINA ss3641255089 Oct 12, 2018 (152)
101 ILLUMINA ss3641553141 Oct 12, 2018 (152)
102 ILLUMINA ss3642732446 Oct 12, 2018 (152)
103 ILLUMINA ss3643780645 Oct 12, 2018 (152)
104 ILLUMINA ss3645011314 Oct 12, 2018 (152)
105 OMUKHERJEE_ADBS ss3646572036 Oct 12, 2018 (152)
106 URBANLAB ss3651269103 Oct 12, 2018 (152)
107 ILLUMINA ss3653562849 Oct 12, 2018 (152)
108 ILLUMINA ss3726675394 Jul 13, 2019 (153)
109 ILLUMINA ss3744329850 Jul 13, 2019 (153)
110 ILLUMINA ss3745548242 Jul 13, 2019 (153)
111 EVA ss3770116741 Jul 13, 2019 (153)
112 ILLUMINA ss3773039946 Jul 13, 2019 (153)
113 PACBIO ss3788894513 Jul 13, 2019 (153)
114 PACBIO ss3793758569 Jul 13, 2019 (153)
115 PACBIO ss3798643645 Jul 13, 2019 (153)
116 KHV_HUMAN_GENOMES ss3822948470 Jul 13, 2019 (153)
117 EVA ss3825481295 Apr 27, 2020 (154)
118 EVA ss3836157972 Apr 27, 2020 (154)
119 EVA ss3841692092 Apr 27, 2020 (154)
120 EVA ss3847211230 Apr 27, 2020 (154)
121 SGDP_PRJ ss3891343639 Apr 27, 2020 (154)
122 KRGDB ss3941746502 Apr 27, 2020 (154)
123 FSA-LAB ss3984440247 Apr 26, 2021 (155)
124 EVA ss3984765380 Apr 26, 2021 (155)
125 EVA ss3986089176 Apr 26, 2021 (155)
126 EVA ss3986876427 Apr 26, 2021 (155)
127 TOPMED ss5121347351 Apr 26, 2021 (155)
128 TOMMO_GENOMICS ss5234266956 Apr 26, 2021 (155)
129 EVA ss5237056008 Apr 26, 2021 (155)
130 EVA ss5237623576 Apr 26, 2021 (155)
131 1000Genomes NC_000023.10 - 43591036 Oct 12, 2018 (152)
132 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 43591036 Oct 12, 2018 (152)
133 ExAC NC_000023.10 - 43591036 Oct 12, 2018 (152)
134 The Danish reference pan genome NC_000023.10 - 43591036 Apr 27, 2020 (154)
135 gnomAD - Exomes NC_000023.10 - 43591036 Jul 13, 2019 (153)
136 GO Exome Sequencing Project NC_000023.10 - 43591036 Oct 12, 2018 (152)
137 HapMap NC_000023.11 - 43731789 Apr 27, 2020 (154)
138 KOREAN population from KRGDB NC_000023.10 - 43591036 Apr 27, 2020 (154)
139 Medical Genome Project healthy controls from Spanish population NC_000023.10 - 43591036 Apr 27, 2020 (154)
140 Qatari NC_000023.10 - 43591036 Apr 27, 2020 (154)
141 SGDP_PRJ NC_000023.10 - 43591036 Apr 27, 2020 (154)
142 Siberian NC_000023.10 - 43591036 Apr 27, 2020 (154)
143 8.3KJPN NC_000023.10 - 43591036 Apr 26, 2021 (155)
144 TopMed NC_000023.11 - 43731789 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000023.10 - 43591036 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000023.10 - 43591036 Jul 13, 2019 (153)
147 ALFA NC_000023.11 - 43731789 Apr 26, 2021 (155)
148 ClinVar RCV000078415.10 Oct 12, 2018 (152)
149 ClinVar RCV000715347.1 Jul 13, 2019 (153)
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)
rs12836020 Sep 24, 2004 (123)
rs17310602 Oct 07, 2004 (123)
rs56618712 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77744764 NC_000023.8:43347289:G:T NC_000023.11:43731788:G:T (self)
ss112871367, ss114663159, ss115611375, ss163098947, ss164832169, ss166214018, ss204225373, ss208870748, ss255983043, ss283741979, ss287608621, ss294548262, ss481230683, ss484377015, ss491950153, ss2635202236, ss3643780645 NC_000023.9:43475979:G:T NC_000023.11:43731788:G:T (self)
82225242, 45404697, 9997363, 9546579, 14703351, 1938087, 48923896, 696078, 21347934, 43360619, 11551449, 92236263, 45404697, 10008382, ss341453349, ss342552253, ss481254241, ss482240580, ss482853074, ss485410688, ss491199757, ss535327397, ss537344834, ss566850869, ss662785052, ss778938600, ss780084150, ss781899396, ss783150795, ss784106761, ss832409988, ss834400281, ss835566244, ss974514046, ss1067609723, ss1082896708, ss1432035326, ss1554248475, ss1583381642, ss1640681545, ss1683675578, ss1694497106, ss1711580318, ss1752806996, ss1939306012, ss1945972276, ss1958190381, ss1971372799, ss2159035095, ss2629696773, ss2634957214, ss2634957215, ss2634957216, ss2634957217, ss2710156815, ss2711180859, ss2745367365, ss2746094787, ss2978333801, ss3019897335, ss3023004379, ss3625997539, ss3630426594, ss3630426595, ss3632843569, ss3632843570, ss3633557921, ss3634287671, ss3635247823, ss3635965026, ss3636996380, ss3637718492, ss3638856340, ss3640955306, ss3641255089, ss3641553141, ss3642732446, ss3645011314, ss3646572036, ss3653562849, ss3744329850, ss3745548242, ss3770116741, ss3773039946, ss3788894513, ss3793758569, ss3798643645, ss3825481295, ss3836157972, ss3841692092, ss3891343639, ss3941746502, ss3984440247, ss3984765380, ss3986089176, ss3986876427, ss5234266956, ss5237623576 NC_000023.10:43591035:G:T NC_000023.11:43731788:G:T (self)
RCV000078415.10, RCV000715347.1, 3978188, 427553092, 684953708, 5163777902, ss2317050276, ss3029042108, ss3609748926, ss3651269103, ss3726675394, ss3822948470, ss3847211230, ss5121347351, ss5237056008 NC_000023.11:43731788:G:T NC_000023.11:43731788:G:T (self)
ss8491261 NT_011568.12:6410903:G:T NC_000023.11:43731788:G:T (self)
ss7951, ss3167120, ss3208017, ss5586751, ss24227250, ss43700571, ss70352082, ss74991120, ss76733581, ss76876396, ss86237596, ss99307781, ss119337833, ss133970573, ss159745303, ss160770250, ss173993204, ss244304696 NT_079573.4:6442779:G:T NC_000023.11:43731788:G:T (self)
Help

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

39 citations for rs6323
PMID Title Author Year Journal
16174289 MAOA haplotypes associated with thrombocyte-MAO activity. Jansson M et al. 2005 BMC genetics
17417058 Monoamine oxidase a gene is associated with borderline personality disorder. Ni X et al. 2007 Psychiatric genetics
18180394 Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans. Fung MM et al. 2008 Circulation
18501009 Association analysis of monoamine oxidase A gene and bipolar affective disorder in Han Chinese. Lin YM et al. 2008 Behavioral and brain functions
19593178 Monoamine oxidase a and catechol-o-methyltransferase functional polymorphisms and the placebo response in major depressive disorder. Leuchter AF et al. 2009 Journal of clinical psychopharmacology
19693267 Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. Roe BE et al. 2009 PloS one
20039948 A genetic study of ADHD and activity level in infancy. Ilott N et al. 2010 Genes, brain, and behavior
20423962 Curve-based multivariate distance matrix regression analysis: application to genetic association analyses involving repeated measures. Salem RM et al. 2010 Physiological genomics
20691428 A cis-phase interaction study of genetic variants within the MAOA gene in major depressive disorder. Zhang J et al. 2010 Biological psychiatry
21122117 Genetic influences on attention deficit hyperactivity disorder symptoms from age 2 to 3: a quantitative and molecular genetic investigation. Ilott NE et al. 2010 BMC psychiatry
21172166 Pharmacogenetics of antidepressant response. Porcelli S et al. 2011 Journal of psychiatry & neuroscience
21216270 Role of gene-gene/gene-environment interaction in the etiology of eastern Indian ADHD probands. Das M et al. 2011 Progress in neuro-psychopharmacology & biological psychiatry
21680027 Influence and interaction of genetic polymorphisms in catecholamine neurotransmitter systems and early life stress on antidepressant drug response. Xu Z et al. 2011 Journal of affective disorders
21687501 Pharmacogenetics of antidepressants. Crisafulli C et al. 2011 Frontiers in pharmacology
21978760 Association study of monoamine oxidase A/B genes and schizophrenia in Han Chinese. Wei YL et al. 2011 Behavioral and brain functions
22162429 Study of a possible role of the monoamine oxidase A (MAOA) gene in paranoid schizophrenia among a Chinese population. Sun Y et al. 2012 American journal of medical genetics. Part B, Neuropsychiatric genetics
22224195 Epigenetics in Developmental Disorder: ADHD and Endophenotypes. Archer T et al. 2011 Journal of genetic syndromes & gene therapy
23111930 MAOA and MAOB polymorphisms and anger-related traits in suicidal participants and controls. Antypa N et al. 2013 European archives of psychiatry and clinical neuroscience
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
23881560 Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD. Das Bhowmik A et al. 2017 Journal of attention disorders
24291416 Sexual dimorphic effect in the genetic association of monoamine oxidase A (MAOA) markers with autism spectrum disorder. Verma D et al. 2014 Progress in neuro-psychopharmacology & biological psychiatry
24356376 Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population. Park Y et al. 2014 Journal of child neurology
24510409 Association study between monoamine oxidase A (MAOA) gene polymorphisms and schizophrenia: lack of association with schizophrenia and possible association with affective disturbances of schizophrenia. Kim SK et al. 2014 Molecular biology reports
24652311 Potential contribution of monoamine oxidase a gene variants in ADHD and behavioral co-morbidities: scenario in eastern Indian probands. Karmakar A et al. 2014 Neurochemical research
24881125 From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment. Fabbri C et al. 2014 Canadian journal of psychiatry. Revue canadienne de psychiatrie
25324626 Research in China on the molecular genetics of schizophrenia. Cui D et al. 2012 Shanghai archives of psychiatry
26260058 Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth. Christiaens I et al. 2015 BMC medical genetics
26272535 The placebo effect: From concepts to genes. Colagiuri B et al. 2015 Neuroscience
27230021 Testing for the mediating role of endophenotypes using molecular genetic data in a twin study of ADHD traits. Pinto R et al. 2016 American journal of medical genetics. Part B, Neuropsychiatric genetics
28119174 Maoa and Maob polymorphisms and personality traits in suicide attempters and healthy controls: a preliminary study. Balestri M et al. 2017 Psychiatry research
28982350 Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands. Karmakar A et al. 2017 BMC medical genetics
30344263 Association of Monoamine Oxidase A (MAOA) Gene uVNTR and rs6323 Polymorphisms with Attention Deficit and Hyperactivity Disorder in Korean Children. Hwang IW et al. 2018 Medicina (Kaunas, Lithuania)
30692067 [Postpartum depression: association with genetic polymorphisms of noradrenaline metabolic enzymes and the risk factors]. Ma J et al. 2019 Nan fang yi ke da xue xue bao = Journal of Southern Medical University
30706164 Effects of MAO-A and CYP450 on primaquine metabolism in healthy volunteers. Ariffin NM et al. 2019 Parasitology research
30967134 A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia. Osmanova DZ et al. 2019 BMC medical genetics
31552390 Placebo effects and the molecular biological components involved. Cai L et al. 2019 General psychiatry
31878203 Cross-Sectional Survey of Mental Health Risk Factors and Comparison of the <i>Monoamine oxidase A</i> Gene DNA Methylation Level in Different Mental Health Conditions among Oilfield Workers in Xinjiang, China. Jiang T et al. 2019 International journal of environmental research and public health
32289651 The effect of polymorphisms in startle-related genes on anxiety symptom severity. Tomasi J et al. 2020 Journal of psychiatric research
32702381 Influence and interaction of genetic, cognitive, neuroendocrine and personalistic markers to antidepressant response in Chinese patients with major depression. Bi Y et al. 2021 Progress in neuro-psychopharmacology & biological psychiatry
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