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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.

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)
T=0.463605 (47450/102350, GnomAD)
C=0.44710 (36156/80867, ExAC)
C=0.14157 (3146/22223, 14KJPN)
C=0.14451 (1856/12843, 8.3KJPN)
T=0.42842 (4525/10562, GO-ESP)
C=0.4643 (2231/4805, 1000G_30x)
C=0.4567 (1724/3775, 1000G)
C=0.4587 (1701/3708, TWINSUK)
C=0.1786 (522/2922, KOREAN)
C=0.4403 (1272/2889, ALSPAC)
C=0.4064 (847/2084, HGDP_Stanford)
C=0.4888 (919/1880, HapMap)
C=0.3873 (440/1136, Daghestan)
C=0.449 (240/534, MGP)
T=0.168 (42/250, SGDP_PRJ)
C=0.435 (47/108, Qatari)
C=0.38 (30/80, Ancient Sardinia)
C=0.17 (8/46, Vietnamese)
T=0.45 (18/40, GENOME_DK)
T=0.27 (8/30, Siberian)
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.

Release Version: 20230706150541
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


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 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
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.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
Gene: MAOB, monoamine oxidase B (minus strand)
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
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 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
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#.

129 SubSNP, 23 Frequency submissions
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)
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)
rs3765226 Oct 09, 2002 (108)
rs17280819 Oct 07, 2004 (123)
rs57263655 May 23, 2008 (130)
rs386545552 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
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)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

47 citations for rs1799836
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
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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.post761+d5e8e07