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.
rs1799836
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chrX:43768752 (GRCh38.p14) 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
- T>A / T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.467154 (123651/264690, TOPMED)C=0.463369 (93418/201606, ALFA)C=0.425763 (75297/176852, GnomAD_exome) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MAOB : Intron Variant
- Publications
- 47 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 | 201606 | T=0.536631 | A=0.000000, C=0.463369 |
European | Sub | 168416 | T=0.545019 | A=0.000000, C=0.454981 |
African | Sub | 10495 | T=0.24612 | A=0.00000, C=0.75388 |
African Others | Sub | 346 | T=0.199 | A=0.000, C=0.801 |
African American | Sub | 10149 | T=0.24771 | A=0.00000, C=0.75229 |
Asian | Sub | 852 | T=0.820 | A=0.000, C=0.180 |
East Asian | Sub | 644 | T=0.828 | A=0.000, C=0.172 |
Other Asian | Sub | 208 | T=0.798 | A=0.000, C=0.202 |
Latin American 1 | Sub | 906 | T=0.476 | A=0.000, C=0.524 |
Latin American 2 | Sub | 6994 | T=0.6398 | A=0.0000, C=0.3602 |
South Asian | Sub | 5054 | T=0.6615 | A=0.0000, C=0.3385 |
Other | Sub | 8889 | T=0.5475 | A=0.0000, C=0.4525 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | T=0.467154 | C=0.532846 |
Allele Frequency Aggregator | Total | Global | 201606 | T=0.536631 | A=0.000000, C=0.463369 |
Allele Frequency Aggregator | European | Sub | 168416 | T=0.545019 | A=0.000000, C=0.454981 |
Allele Frequency Aggregator | African | Sub | 10495 | T=0.24612 | A=0.00000, C=0.75388 |
Allele Frequency Aggregator | Other | Sub | 8889 | T=0.5475 | A=0.0000, C=0.4525 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6994 | T=0.6398 | A=0.0000, C=0.3602 |
Allele Frequency Aggregator | South Asian | Sub | 5054 | T=0.6615 | A=0.0000, C=0.3385 |
Allele Frequency Aggregator | Latin American 1 | Sub | 906 | T=0.476 | A=0.000, C=0.524 |
Allele Frequency Aggregator | Asian | Sub | 852 | T=0.820 | A=0.000, C=0.180 |
gnomAD - Exomes | Global | Study-wide | 176852 | T=0.574237 | C=0.425763 |
gnomAD - Exomes | European | Sub | 93848 | T=0.54747 | C=0.45253 |
gnomAD - Exomes | Asian | Sub | 31583 | T=0.72618 | C=0.27382 |
gnomAD - Exomes | American | Sub | 26895 | T=0.65953 | C=0.34047 |
gnomAD - Exomes | African | Sub | 12824 | T=0.22341 | C=0.77659 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 7332 | T=0.5728 | C=0.4272 |
gnomAD - Exomes | Other | Sub | 4370 | T=0.5579 | C=0.4421 |
gnomAD - Genomes | Global | Study-wide | 102350 | T=0.463605 | C=0.536395 |
gnomAD - Genomes | European | Sub | 56369 | T=0.54668 | C=0.45332 |
gnomAD - Genomes | African | Sub | 30644 | T=0.23453 | C=0.76547 |
gnomAD - Genomes | American | Sub | 9106 | T=0.5972 | C=0.4028 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 2497 | T=0.5771 | C=0.4229 |
gnomAD - Genomes | East Asian | Sub | 2187 | T=0.8276 | C=0.1724 |
gnomAD - Genomes | Other | Sub | 1547 | T=0.4900 | C=0.5100 |
ExAC | Global | Study-wide | 80867 | T=0.55290 | C=0.44710 |
ExAC | Europe | Sub | 48180 | T=0.54020 | C=0.45980 |
ExAC | Asian | Sub | 15054 | T=0.71104 | C=0.28896 |
ExAC | American | Sub | 8860 | T=0.6617 | C=0.3383 |
ExAC | African | Sub | 8176 | T=0.2217 | C=0.7783 |
ExAC | Other | Sub | 597 | T=0.509 | C=0.491 |
14KJPN | JAPANESE | Study-wide | 22223 | T=0.85843 | C=0.14157 |
8.3KJPN | JAPANESE | Study-wide | 12843 | T=0.85549 | C=0.14451 |
GO Exome Sequencing Project | Global | Study-wide | 10562 | T=0.42842 | C=0.57158 |
GO Exome Sequencing Project | European American | Sub | 6727 | T=0.5404 | C=0.4596 |
GO Exome Sequencing Project | African American | Sub | 3835 | T=0.2321 | C=0.7679 |
1000Genomes_30x | Global | Study-wide | 4805 | T=0.5357 | C=0.4643 |
1000Genomes_30x | African | Sub | 1328 | T=0.2116 | C=0.7884 |
1000Genomes_30x | Europe | Sub | 961 | T=0.553 | C=0.447 |
1000Genomes_30x | South Asian | Sub | 883 | T=0.675 | C=0.325 |
1000Genomes_30x | East Asian | Sub | 878 | T=0.820 | C=0.180 |
1000Genomes_30x | American | Sub | 755 | T=0.591 | C=0.409 |
1000Genomes | Global | Study-wide | 3775 | T=0.5433 | C=0.4567 |
1000Genomes | African | Sub | 1003 | T=0.2084 | C=0.7916 |
1000Genomes | Europe | Sub | 766 | T=0.550 | C=0.450 |
1000Genomes | East Asian | Sub | 764 | T=0.819 | C=0.181 |
1000Genomes | South Asian | Sub | 718 | T=0.678 | C=0.322 |
1000Genomes | American | Sub | 524 | T=0.588 | C=0.412 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.5413 | C=0.4587 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | T=0.8214 | C=0.1786 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 2889 | T=0.5597 | C=0.4403 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | T=0.5936 | C=0.4064 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | T=0.785 | C=0.215 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.630 | C=0.370 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | T=0.491 | C=0.509 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.559 | C=0.441 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | T=0.174 | C=0.826 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.699 | C=0.301 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | T=0.88 | C=0.12 |
HapMap | Global | Study-wide | 1880 | T=0.5112 | C=0.4888 |
HapMap | American | Sub | 762 | T=0.634 | C=0.366 |
HapMap | African | Sub | 692 | T=0.247 | C=0.753 |
HapMap | Asian | Sub | 252 | T=0.825 | C=0.175 |
HapMap | Europe | Sub | 174 | T=0.569 | C=0.431 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | T=0.6127 | C=0.3873 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | T=0.627 | C=0.373 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | T=0.542 | C=0.458 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | T=0.803 | C=0.197 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | T=0.370 | C=0.630 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | T=0.63 | C=0.37 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | T=0.67 | C=0.33 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | T=0.551 | C=0.449 |
SGDP_PRJ | Global | Study-wide | 250 | T=0.168 | C=0.832 |
Qatari | Global | Study-wide | 108 | T=0.565 | C=0.435 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 80 | T=0.62 | C=0.38 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 46 | T=0.83 | C=0.17 |
The Danish reference pan genome | Danish | Study-wide | 40 | T=0.45 | C=0.55 |
Siberian | Global | Study-wide | 30 | T=0.27 | C=0.73 |
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.p14 chr X | NC_000023.11:g.43768752T>A |
GRCh38.p14 chr X | NC_000023.11:g.43768752T>C |
GRCh37.p13 chr X | NC_000023.10:g.43627999T>A |
GRCh37.p13 chr X | NC_000023.10:g.43627999T>C |
MAOB RefSeqGene | NG_008723.2:g.118724A>T |
MAOB RefSeqGene | NG_008723.2:g.118724A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MAOB transcript | NM_000898.5:c.1348-36A>T | N/A | Intron Variant |
MAOB transcript variant X1 |
XM_017029524.3:c.1300-36A… XM_017029524.3:c.1300-36A>T |
N/A | Intron 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.
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 | T= | A | C |
---|---|---|---|
GRCh38.p14 chr X | NC_000023.11:g.43768752= | NC_000023.11:g.43768752T>A | NC_000023.11:g.43768752T>C |
GRCh37.p13 chr X | NC_000023.10:g.43627999= | NC_000023.10:g.43627999T>A | NC_000023.10:g.43627999T>C |
MAOB RefSeqGene | NG_008723.2:g.118724= | NG_008723.2:g.118724A>T | NG_008723.2:g.118724A>G |
MAOB transcript | NM_000898.4:c.1348-36= | NM_000898.4:c.1348-36A>T | NM_000898.4:c.1348-36A>G |
MAOB transcript | NM_000898.5:c.1348-36= | NM_000898.5:c.1348-36A>T | NM_000898.5:c.1348-36A>G |
MAOB transcript variant X1 | XM_005272606.1:c.1363-36= | XM_005272606.1:c.1363-36A>T | XM_005272606.1:c.1363-36A>G |
MAOB transcript variant X2 | XM_005272607.1:c.1300-36= | XM_005272607.1:c.1300-36A>T | XM_005272607.1:c.1300-36A>G |
MAOB transcript variant X3 | XM_005272608.1:c.1300-36= | XM_005272608.1:c.1300-36A>T | XM_005272608.1:c.1300-36A>G |
MAOB transcript variant X4 | XM_005272609.1:c.1202-36= | XM_005272609.1:c.1202-36A>T | XM_005272609.1:c.1202-36A>G |
MAOB transcript variant X1 | XM_017029524.3:c.1300-36= | XM_017029524.3:c.1300-36A>T | XM_017029524.3:c.1300-36A>G |
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 | HGBASE | ss2419863 | Nov 14, 2000 (89) |
2 | TSC-CSHL | ss4061697 | Nov 05, 2001 (101) |
3 | YUSUKE | ss4951266 | Aug 28, 2002 (108) |
4 | SC_SNP | ss8177268 | Apr 21, 2003 (114) |
5 | PERLEGEN | ss24721772 | Sep 20, 2004 (123) |
6 | ABI | ss43571765 | Mar 14, 2006 (126) |
7 | ILLUMINA | ss65748793 | Oct 14, 2006 (127) |
8 | ILLUMINA | ss66739033 | Nov 30, 2006 (127) |
9 | ILLUMINA | ss67196959 | Nov 30, 2006 (127) |
10 | ILLUMINA | ss67585856 | Nov 30, 2006 (127) |
11 | PERLEGEN | ss69261381 | May 17, 2007 (127) |
12 | ILLUMINA | ss70675170 | May 23, 2008 (130) |
13 | ILLUMINA | ss71238176 | May 17, 2007 (127) |
14 | ILLUMINA | ss75706473 | Dec 06, 2007 (129) |
15 | AFFY | ss76425208 | Dec 06, 2007 (129) |
16 | CGM_KYOTO | ss76876608 | Dec 06, 2007 (129) |
17 | ILLUMINA | ss79094190 | Dec 14, 2007 (130) |
18 | KRIBB_YJKIM | ss83877262 | Dec 14, 2007 (130) |
19 | SHGC | ss99307696 | Feb 04, 2009 (130) |
20 | 1000GENOMES | ss112871455 | Jan 25, 2009 (130) |
21 | 1000GENOMES | ss114663564 | Jan 25, 2009 (130) |
22 | ILLUMINA-UK | ss115611386 | Feb 04, 2009 (130) |
23 | ILLUMINA | ss121813951 | Dec 01, 2009 (131) |
24 | ILLUMINA | ss153736087 | Dec 01, 2009 (131) |
25 | ILLUMINA | ss159329686 | Dec 01, 2009 (131) |
26 | ILLUMINA | ss160462686 | Dec 01, 2009 (131) |
27 | COMPLETE_GENOMICS | ss164832927 | Jul 04, 2010 (132) |
28 | COMPLETE_GENOMICS | ss166214217 | Jul 04, 2010 (132) |
29 | ILLUMINA | ss170815251 | Jul 04, 2010 (132) |
30 | ILLUMINA | ss172924161 | Jul 04, 2010 (132) |
31 | BUSHMAN | ss204225452 | Jul 04, 2010 (132) |
32 | BL | ss255983128 | May 09, 2011 (134) |
33 | GMI | ss283742009 | May 04, 2012 (137) |
34 | GMI | ss287608642 | Apr 25, 2013 (138) |
35 | 1000GENOMES | ss341453535 | May 09, 2011 (134) |
36 | ILLUMINA | ss480300052 | May 04, 2012 (137) |
37 | ILLUMINA | ss480311137 | May 04, 2012 (137) |
38 | ILLUMINA | ss481066539 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss484947836 | May 04, 2012 (137) |
40 | 1000GENOMES | ss491199775 | May 04, 2012 (137) |
41 | ILLUMINA | ss536992185 | Sep 08, 2015 (146) |
42 | TISHKOFF | ss566850961 | Apr 25, 2013 (138) |
43 | SSMP | ss662785146 | Apr 25, 2013 (138) |
44 | NHLBI-ESP | ss713648741 | Apr 25, 2013 (138) |
45 | ILLUMINA | ss778841459 | Sep 08, 2015 (146) |
46 | ILLUMINA | ss782920226 | Sep 08, 2015 (146) |
47 | ILLUMINA | ss783883269 | Sep 08, 2015 (146) |
48 | ILLUMINA | ss825424708 | Apr 01, 2015 (144) |
49 | ILLUMINA | ss832175347 | Sep 08, 2015 (146) |
50 | ILLUMINA | ss832841695 | Jul 13, 2019 (153) |
51 | ILLUMINA | ss834302016 | Sep 08, 2015 (146) |
52 | JMKIDD_LAB | ss1082896828 | Aug 21, 2014 (142) |
53 | HAMMER_LAB | ss1397793608 | Sep 08, 2015 (146) |
54 | DDI | ss1432035351 | Apr 01, 2015 (144) |
55 | 1000GENOMES | ss1554249308 | Apr 01, 2015 (144) |
56 | EVA_GENOME_DK | ss1583381686 | Apr 01, 2015 (144) |
57 | EVA_UK10K_ALSPAC | ss1640681961 | Apr 01, 2015 (144) |
58 | EVA_UK10K_TWINSUK | ss1683675994 | Apr 01, 2015 (144) |
59 | EVA_EXAC | ss1694497293 | Apr 01, 2015 (144) |
60 | EVA_MGP | ss1711580336 | Apr 01, 2015 (144) |
61 | ILLUMINA | ss1752807030 | Sep 08, 2015 (146) |
62 | WEILL_CORNELL_DGM | ss1939306148 | Feb 12, 2016 (147) |
63 | GENOMED | ss1971372841 | Jul 19, 2016 (147) |
64 | USC_VALOUEV | ss2159035170 | Dec 20, 2016 (150) |
65 | HUMAN_LONGEVITY | ss2317051949 | Dec 20, 2016 (150) |
66 | ILLUMINA | ss2634957265 | Nov 08, 2017 (151) |
67 | GRF | ss2710156904 | Nov 08, 2017 (151) |
68 | ILLUMINA | ss2711180871 | Nov 08, 2017 (151) |
69 | GNOMAD | ss2745367642 | Nov 08, 2017 (151) |
70 | GNOMAD | ss2746094865 | Nov 08, 2017 (151) |
71 | GNOMAD | ss2978335812 | Nov 08, 2017 (151) |
72 | AFFY | ss2985484032 | Nov 08, 2017 (151) |
73 | AFFY | ss2986130289 | Nov 08, 2017 (151) |
74 | SWEGEN | ss3019897601 | Nov 08, 2017 (151) |
75 | BIOINF_KMB_FNS_UNIBA | ss3029042132 | Nov 08, 2017 (151) |
76 | ILLUMINA | ss3625997564 | Oct 12, 2018 (152) |
77 | ILLUMINA | ss3630426652 | Oct 12, 2018 (152) |
78 | ILLUMINA | ss3632843607 | Oct 12, 2018 (152) |
79 | ILLUMINA | ss3633557951 | Oct 12, 2018 (152) |
80 | ILLUMINA | ss3634287701 | Oct 12, 2018 (152) |
81 | ILLUMINA | ss3635247858 | Oct 12, 2018 (152) |
82 | ILLUMINA | ss3635965055 | Oct 12, 2018 (152) |
83 | ILLUMINA | ss3636996416 | Oct 12, 2018 (152) |
84 | ILLUMINA | ss3637718521 | Oct 12, 2018 (152) |
85 | ILLUMINA | ss3638856375 | Oct 12, 2018 (152) |
86 | ILLUMINA | ss3639431942 | Oct 12, 2018 (152) |
87 | ILLUMINA | ss3639751165 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3640955341 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3643780677 | Oct 12, 2018 (152) |
90 | OMUKHERJEE_ADBS | ss3646572046 | Oct 12, 2018 (152) |
91 | URBANLAB | ss3651269126 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3654250630 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3745548277 | Jul 13, 2019 (153) |
94 | EVA | ss3770116979 | Jul 13, 2019 (153) |
95 | ILLUMINA | ss3773039980 | Jul 13, 2019 (153) |
96 | PACBIO | ss3788894538 | Jul 13, 2019 (153) |
97 | PACBIO | ss3793758594 | Jul 13, 2019 (153) |
98 | PACBIO | ss3798643670 | Jul 13, 2019 (153) |
99 | KHV_HUMAN_GENOMES | ss3822948674 | Jul 13, 2019 (153) |
100 | EVA | ss3825481348 | Apr 27, 2020 (154) |
101 | EVA | ss3825977407 | Apr 27, 2020 (154) |
102 | EVA | ss3836158021 | Apr 27, 2020 (154) |
103 | EVA | ss3841692111 | Apr 27, 2020 (154) |
104 | EVA | ss3847211257 | Apr 27, 2020 (154) |
105 | HGDP | ss3847972611 | Apr 27, 2020 (154) |
106 | SGDP_PRJ | ss3891343955 | Apr 27, 2020 (154) |
107 | KRGDB | ss3941746911 | Apr 27, 2020 (154) |
108 | FSA-LAB | ss3984440257 | Apr 26, 2021 (155) |
109 | EVA | ss3984765394 | Apr 26, 2021 (155) |
110 | EVA | ss3985942119 | Apr 26, 2021 (155) |
111 | EVA | ss3986876453 | Apr 26, 2021 (155) |
112 | TOPMED | ss5121354026 | Apr 26, 2021 (155) |
113 | TOMMO_GENOMICS | ss5234267676 | Apr 26, 2021 (155) |
114 | EVA | ss5237257264 | Apr 26, 2021 (155) |
115 | 1000G_HIGH_COVERAGE | ss5312394018 | Oct 16, 2022 (156) |
116 | EVA | ss5316082204 | Oct 16, 2022 (156) |
117 | HUGCELL_USP | ss5504080788 | Oct 16, 2022 (156) |
118 | 1000G_HIGH_COVERAGE | ss5620548402 | Oct 16, 2022 (156) |
119 | EVA | ss5623984801 | Oct 16, 2022 (156) |
120 | EVA | ss5624191330 | Oct 16, 2022 (156) |
121 | SANFORD_IMAGENETICS | ss5665161805 | Oct 16, 2022 (156) |
122 | TOMMO_GENOMICS | ss5795913978 | Oct 16, 2022 (156) |
123 | EVA | ss5799470144 | Oct 16, 2022 (156) |
124 | EVA | ss5800238576 | Oct 16, 2022 (156) |
125 | YY_MCH | ss5819014098 | Oct 16, 2022 (156) |
126 | EVA | ss5848741170 | Oct 16, 2022 (156) |
127 | EVA | ss5857071007 | Oct 16, 2022 (156) |
128 | EVA | ss5978162883 | Oct 16, 2022 (156) |
129 | EVA | ss5981155246 | Oct 16, 2022 (156) |
130 | 1000Genomes | NC_000023.10 - 43627999 | Oct 12, 2018 (152) |
131 | 1000Genomes_30x | NC_000023.11 - 43768752 | Oct 16, 2022 (156) |
132 | The Avon Longitudinal Study of Parents and Children | NC_000023.10 - 43627999 | Oct 12, 2018 (152) |
133 | Genome-wide autozygosity in Daghestan | NC_000023.9 - 43512943 | Apr 27, 2020 (154) |
134 | ExAC | NC_000023.10 - 43627999 | Oct 12, 2018 (152) |
135 | The Danish reference pan genome | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
136 | gnomAD - Genomes | NC_000023.11 - 43768752 | Apr 26, 2021 (155) |
137 | gnomAD - Exomes | NC_000023.10 - 43627999 | Jul 13, 2019 (153) |
138 | GO Exome Sequencing Project | NC_000023.10 - 43627999 | Oct 12, 2018 (152) |
139 | HGDP-CEPH-db Supplement 1 | NC_000023.9 - 43512943 | Apr 27, 2020 (154) |
140 | HapMap | NC_000023.11 - 43768752 | Apr 27, 2020 (154) |
141 | KOREAN population from KRGDB | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
142 | Medical Genome Project healthy controls from Spanish population | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
143 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000023.10 - 43627999 | Apr 26, 2021 (155) |
144 | Qatari | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
145 | SGDP_PRJ | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
146 | Siberian | NC_000023.10 - 43627999 | Apr 27, 2020 (154) |
147 | 8.3KJPN | NC_000023.10 - 43627999 | Apr 26, 2021 (155) |
148 | 14KJPN | NC_000023.11 - 43768752 | Oct 16, 2022 (156) |
149 | TopMed | NC_000023.11 - 43768752 | Apr 26, 2021 (155) |
150 | UK 10K study - Twins | NC_000023.10 - 43627999 | Oct 12, 2018 (152) |
151 | A Vietnamese Genetic Variation Database | NC_000023.10 - 43627999 | Jul 13, 2019 (153) |
152 | ALFA | NC_000023.11 - 43768752 | Apr 26, 2021 (155) |
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) |
---|---|
rs3765226 | Oct 09, 2002 (108) |
rs17280819 | Oct 07, 2004 (123) |
rs57263655 | May 23, 2008 (130) |
rs386545552 | Aug 21, 2014 (142) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
549519388 | NC_000023.11:43768751:T:A | NC_000023.11:43768751:T:A | (self) |
ss3639431942, ss3639751165 | NC_000023.8:43384252:T:C | NC_000023.11:43768751:T:C | (self) |
547694, 650503, ss112871455, ss114663564, ss115611386, ss160462686, ss164832927, ss166214217, ss204225452, ss255983128, ss283742009, ss287608642, ss480300052, ss825424708, ss1397793608, ss3643780677, ss3847972611 | NC_000023.9:43512942:T:C | NC_000023.11:43768751:T:C | (self) |
82226068, 45405142, 9997570, 9546623, 14703632, 1938140, 48924305, 696096, 1168046, 21348070, 43360935, 11551524, 92236983, 45405142, 10008473, ss341453535, ss480311137, ss481066539, ss484947836, ss491199775, ss536992185, ss566850961, ss662785146, ss713648741, ss778841459, ss782920226, ss783883269, ss832175347, ss832841695, ss834302016, ss1082896828, ss1432035351, ss1554249308, ss1583381686, ss1640681961, ss1683675994, ss1694497293, ss1711580336, ss1752807030, ss1939306148, ss1971372841, ss2159035170, ss2634957265, ss2710156904, ss2711180871, ss2745367642, ss2746094865, ss2978335812, ss2985484032, ss2986130289, ss3019897601, ss3625997564, ss3630426652, ss3632843607, ss3633557951, ss3634287701, ss3635247858, ss3635965055, ss3636996416, ss3637718521, ss3638856375, ss3640955341, ss3646572046, ss3654250630, ss3745548277, ss3770116979, ss3773039980, ss3788894538, ss3793758594, ss3798643670, ss3825481348, ss3825977407, ss3836158021, ss3841692111, ss3891343955, ss3941746911, ss3984440257, ss3984765394, ss3985942119, ss3986876453, ss5234267676, ss5316082204, ss5623984801, ss5624191330, ss5665161805, ss5799470144, ss5800238576, ss5848741170, ss5978162883, ss5981155246 | NC_000023.10:43627998:T:C | NC_000023.11:43768751:T:C | (self) |
108074337, 579569197, 3978254, 129751082, 684960383, 549519388, ss2317051949, ss3029042132, ss3651269126, ss3822948674, ss3847211257, ss5121354026, ss5237257264, ss5312394018, ss5504080788, ss5620548402, ss5795913978, ss5819014098, ss5857071007 | NC_000023.11:43768751:T:C | NC_000023.11:43768751:T:C | (self) |
ss2419863, ss4061697, ss4951266, ss8177268, ss24721772, ss43571765, ss65748793, ss66739033, ss67196959, ss67585856, ss69261381, ss70675170, ss71238176, ss75706473, ss76425208, ss76876608, ss79094190, ss83877262, ss99307696, ss121813951, ss153736087, ss159329686, ss170815251, ss172924161 | NT_079573.4:6479742:T:C | NC_000023.11:43768751:T:C | (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 |
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 |
17427196 | Monoamine oxidase A gene polymorphism predicts adolescent outcome of attention-deficit/hyperactivity disorder. | Li J et al. | 2007 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
17918234 | The monoamine oxidase B gene exhibits significant association to ADHD. | Li J et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
18180394 | Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans. | Fung MM et al. | 2008 | Circulation |
18205889 | Gene-gene interaction between FGF20 and MAOB in Parkinson disease. | Gao X et al. | 2008 | Annals of human genetics |
19018232 | Comparison of the genotyping results using DNA obtained from blood and saliva. | Philibert RA et al. | 2008 | Psychiatric genetics |
19344875 | Association test for X-linked QTL in family-based designs. | Zhang L et al. | 2009 | American journal of human genetics |
19657584 | Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans. | Dlugos AM et al. | 2009 | Journal of neural transmission (Vienna, Austria |
19772600 | A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data. | Huang LC et al. | 2009 | Journal of translational medicine |
21738487 | Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. | Do CB et al. | 2011 | PLoS genetics |
21781348 | Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population. | Kiyohara C et al. | 2011 | BMC neurology |
21978760 | Association study of monoamine oxidase A/B genes and schizophrenia in Han Chinese. | Wei YL et al. | 2011 | Behavioral and brain functions |
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 |
23856854 | Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders. | McCracken JT et al. | 2014 | The pharmacogenomics journal |
24755993 | Therapygenetics in mindfulness-based cognitive therapy: do genes have an impact on therapy-induced change in real-life positive affective experiences? | Bakker JM et al. | 2014 | Translational psychiatry |
25066260 | Functional polymorphisms of the MAO gene with Parkinson disease susceptibility: a meta-analysis. | Sun YX et al. | 2014 | Journal of the neurological sciences |
25073638 | Polymorphisms in genes implicated in dopamine, serotonin and noradrenalin metabolism suggest association with cerebrospinal fluid monoamine metabolite concentrations in psychosis. | Andreou D et al. | 2014 | Behavioral and brain functions |
25324626 | Research in China on the molecular genetics of schizophrenia. | Cui D et al. | 2012 | Shanghai archives of psychiatry |
25636089 | [Polymorphisms of catechol-O-methyltransferase and monoamine oxidase B genes among Chinese patients with Parkinson's disease]. | Hao H et al. | 2015 | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |
25805645 | Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's disease. | Moreau C et al. | 2015 | Brain |
26851573 | Monoamine oxidase and agitation in psychiatric patients. | Nikolac Perkovic M et al. | 2016 | Progress in neuro-psychopharmacology & biological psychiatry |
26942037 | Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease. | Polito L et al. | 2016 | Parkinson's disease |
27112218 | Platelet monoamine oxidase type B, MAOB intron 13 and MAOA-uVNTR polymorphism and symptoms of post-traumatic stress disorder. | Svob Strac D et al. | 2016 | Stress (Amsterdam, Netherlands) |
27381555 | Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males. | Chakraborti B et al. | 2016 | Progress in neuro-psychopharmacology & biological psychiatry |
27821364 | Modification of the association between early adversity and obsessive-compulsive disorder by polymorphisms in the MAOA, MAOB and COMT genes. | McGregor NW et al. | 2016 | Psychiatry research |
28119174 | Maoa and Maob polymorphisms and personality traits in suicide attempters and healthy controls: a preliminary study. | Balestri M et al. | 2017 | Psychiatry research |
29557505 | Differences in SNP genotype distributions between complex and simple suicides. | Čugura T et al. | 2018 | International journal of legal medicine |
29578580 | MAO-B and COMT Genetic Variations Associated With Levodopa Treatment Response in Patients With Parkinson's Disease. | Sampaio TF et al. | 2018 | Journal of clinical pharmacology |
30216543 | Functional monoamine oxidase B gene intron 13 polymorphism predicts putaminal dopamine turnover in de novo Parkinson's disease. | Löhle M et al. | 2018 | Movement disorders |
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 |
31275445 | No Association between the rs1799836 Polymorphism of the Monoamine Oxidase B Gene and the Risk of Autism Spectrum Disorders in the Kazakhstani Population. | Perfilyeva AV et al. | 2019 | Disease markers |
31771069 | Relationships of Cerebrospinal Fluid Alzheimer's Disease Biomarkers and COMT, DBH, and MAOB Single Nucleotide Polymorphisms. | Babić Leko M et al. | 2020 | Journal of Alzheimer's disease |
32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
32346620 | Monoamine oxidase B rs1799836 G allele polymorphism is a risk factor for early development of levodopa-induced dyskinesia in Parkinson's disease. | Kakinuma S et al. | 2020 | eNeurologicalSci |
32710539 | Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease. | Redenšek S et al. | 2020 | The international journal of neuropsychopharmacology |
33013295 | Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson's Disease and Multiple System Atrophy in a Chinese Population. | Chen Y et al. | 2020 | Frontiers in neuroscience |
33250838 | Polymorphism of the Dopa-Decarboxylase Gene Modifies the Motor Response to Levodopa in Chinese Patients With Parkinson's Disease. | Li L et al. | 2020 | Frontiers in neurology |
33561612 | Genetic variants in levodopa-induced dyskinesia (LID): A systematic review and meta-analysis. | Falla M et al. | 2021 | Parkinsonism & related disorders |
34287249 | The Associations between COMT and MAO-B Genetic Variants with Negative Symptoms in Patients with Schizophrenia. | Madzarac Z et al. | 2021 | Current issues in molecular biology |
34346015 | Association of COMT rs4680 and MAO-B rs1799836 polymorphisms with levodopa-induced dyskinesia in Parkinson's disease-a meta-analysis. | Yin Y et al. | 2021 | Neurological sciences |
34442374 | Preliminary Pharmacogenetic Study to Explore Putative Dopaminergic Mechanisms of Antidepressant Action. | Ochi T et al. | 2021 | Journal of personalized medicine |
34533445 | Association of the MAOB rs1799836 Single Nucleotide Polymorphism and APOE ε4 Allele in Alzheimer's Disease. | Babić Leko M et al. | 2021 | Current Alzheimer research |
35044623 | The Role of Single Nucleotide Polymorphisms of Monoamine Oxidase B, Dopamine D2 Receptor, and DOPA Decarboxylase Receptors Among Patients Treated for Parkinson's Disease. | Zapała B et al. | 2022 | Journal of molecular neuroscience |
35079903 | Polymorphisms of the dopamine metabolic and signaling pathways are associated with susceptibility to motor levodopa-induced complications (MLIC) in Parkinson's disease: a systematic review and meta-analysis. | Soraya GV et al. | 2022 | Neurological sciences |
35096365 | Functional MAOB Gene Intron 13 Polymorphism Predicts Dyskinesia in Parkinson's Disease. | Löhle M et al. | 2022 | Parkinson's disease |
35140610 | Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies. | Tsermpini EE et al. | 2021 | Frontiers in pharmacology |
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.