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)
- 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.
| 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 |
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 |
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.
| 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 |
| 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 |
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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000078415.10 | not specified | Benign |
| RCV000715347.1 | History of neurodevelopmental disorder | Benign |
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= |
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#.
| 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) |
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) |
| 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) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| 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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.