Name: rs1137070
Published: September 21, 2022
License: Open Access

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.

rs1137070

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:43744144 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.310157 (88301/284698, ALFA)
T=0.349144 (92415/264690, TOPMED)
T=0.378912 (69176/182565, GnomAD_exome) (+ 19 more)
T=0.37403 (32470/86811, ExAC)
C=0.40634 (9030/22223, 14KJPN)
C=0.40621 (5217/12843, 8.3KJPN)
T=0.32680 (3452/10563, GO-ESP)
T=0.4408 (2118/4805, 1000G_30x)
T=0.4482 (1692/3775, 1000G)
T=0.2929 (1086/3708, TWINSUK)
C=0.4457 (1306/2930, KOREAN)
T=0.3008 (869/2889, ALSPAC)
T=0.4045 (843/2084, HGDP_Stanford)
T=0.4317 (815/1888, HapMap)
T=0.260 (139/534, MGP)
T=0.441 (157/356, PharmGKB)
T=0.130 (46/354, SGDP_PRJ)
C=0.419 (62/148, Vietnamese)
T=0.315 (34/108, Qatari)
T=0.43 (24/56, Ancient Sardinia)
T=0.20 (8/40, GENOME_DK)
T=0.24 (8/34, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: MAOA : Synonymous Variant
Publications: 37 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	284698	T=0.310157	C=0.689843
European	Sub	246238	T=0.294621	C=0.705379
African	Sub	11147	T=0.37346	C=0.62654
African Others	Sub	410	T=0.417	C=0.583
African American	Sub	10737	T=0.37180	C=0.62820
Asian	Sub	3988	T=0.5742	C=0.4258
East Asian	Sub	3212	T=0.5931	C=0.4069
Other Asian	Sub	776	T=0.496	C=0.504
Latin American 1	Sub	1132	T=0.2959	C=0.7041
Latin American 2	Sub	7212	T=0.3629	C=0.6371
South Asian	Sub	5226	T=0.5825	C=0.4175
Other	Sub	9755	T=0.3388	C=0.6612

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	284698	T=0.310157	C=0.689843
Allele Frequency Aggregator	European	Sub	246238	T=0.294621	C=0.705379
Allele Frequency Aggregator	African	Sub	11147	T=0.37346	C=0.62654
Allele Frequency Aggregator	Other	Sub	9755	T=0.3388	C=0.6612
Allele Frequency Aggregator	Latin American 2	Sub	7212	T=0.3629	C=0.6371
Allele Frequency Aggregator	South Asian	Sub	5226	T=0.5825	C=0.4175
Allele Frequency Aggregator	Asian	Sub	3988	T=0.5742	C=0.4258
Allele Frequency Aggregator	Latin American 1	Sub	1132	T=0.2959	C=0.7041
TopMed	Global	Study-wide	264690	T=0.349144	C=0.650856
gnomAD - Exomes	Global	Study-wide	182565	T=0.378912	C=0.621088
gnomAD - Exomes	European	Sub	97263	T=0.31089	C=0.68911
gnomAD - Exomes	Asian	Sub	32812	T=0.59228	C=0.40772
gnomAD - Exomes	American	Sub	27368	T=0.39568	C=0.60432
gnomAD - Exomes	African	Sub	13141	T=0.37668	C=0.62332
gnomAD - Exomes	Ashkenazi Jewish	Sub	7470	T=0.2858	C=0.7142
gnomAD - Exomes	Other	Sub	4511	T=0.3525	C=0.6475
ExAC	Global	Study-wide	86811	T=0.37403	C=0.62597
ExAC	Europe	Sub	52039	T=0.30281	C=0.69719
ExAC	Asian	Sub	16408	T=0.58368	C=0.41632
ExAC	American	Sub	9258	T=0.4037	C=0.5963
ExAC	African	Sub	8474	T=0.3729	C=0.6271
ExAC	Other	Sub	632	T=0.377	C=0.623
14KJPN	JAPANESE	Study-wide	22223	T=0.59366	C=0.40634
8.3KJPN	JAPANESE	Study-wide	12843	T=0.59379	C=0.40621
GO Exome Sequencing Project	Global	Study-wide	10563	T=0.32680	C=0.67320
GO Exome Sequencing Project	European American	Sub	6728	T=0.2965	C=0.7035
GO Exome Sequencing Project	African American	Sub	3835	T=0.3799	C=0.6201
1000Genomes_30x	Global	Study-wide	4805	T=0.4408	C=0.5592
1000Genomes_30x	African	Sub	1328	T=0.3607	C=0.6393
1000Genomes_30x	Europe	Sub	961	T=0.284	C=0.716
1000Genomes_30x	South Asian	Sub	883	T=0.650	C=0.350
1000Genomes_30x	East Asian	Sub	878	T=0.576	C=0.424
1000Genomes_30x	American	Sub	755	T=0.379	C=0.621
1000Genomes	Global	Study-wide	3775	T=0.4482	C=0.5518
1000Genomes	African	Sub	1003	T=0.3569	C=0.6431
1000Genomes	Europe	Sub	766	T=0.292	C=0.708
1000Genomes	East Asian	Sub	764	T=0.576	C=0.424
1000Genomes	South Asian	Sub	718	T=0.648	C=0.352
1000Genomes	American	Sub	524	T=0.391	C=0.609
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2929	C=0.7071
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5543	C=0.4457
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	2889	T=0.3008	C=0.6992
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.4045	C=0.5955
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.513	C=0.487
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.488	C=0.512
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.283	C=0.717
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.259	C=0.741
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.289	C=0.711
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.528	C=0.472
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.47	C=0.53
HapMap	Global	Study-wide	1888	T=0.4317	C=0.5683
HapMap	American	Sub	768	T=0.461	C=0.539
HapMap	African	Sub	690	T=0.372	C=0.628
HapMap	Asian	Sub	254	T=0.587	C=0.413
HapMap	Europe	Sub	176	T=0.312	C=0.688
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.260	C=0.740
PharmGKB Aggregated	Global	Study-wide	356	T=0.441	C=0.559
PharmGKB Aggregated	PA147967515	Sub	356	T=0.441	C=0.559
SGDP_PRJ	Global	Study-wide	354	T=0.130	C=0.870
A Vietnamese Genetic Variation Database	Global	Study-wide	148	T=0.581	C=0.419
Qatari	Global	Study-wide	108	T=0.315	C=0.685
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	56	T=0.43	C=0.57
The Danish reference pan genome	Danish	Study-wide	40	T=0.20	C=0.80
Siberian	Global	Study-wide	34	T=0.24	C=0.76

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.43744144T>C
GRCh37.p13 chr X	NC_000023.10:g.43603391T>C
MAOA RefSeqGene	NG_008957.2:g.92984T>C

Gene: MAOA, monoamine oxidase A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAOA transcript variant 1	NM_000240.4:c.1410T>C	D [GAT] > D [GAC]	Coding Sequence Variant
amine oxidase [flavin-containing] A isoform 1	NP_000231.1:p.Asp470=	D (Asp) > D (Asp)	Synonymous Variant
MAOA transcript variant 2	NM_001270458.2:c.1011T>C	D [GAT] > D [GAC]	Coding Sequence Variant
amine oxidase [flavin-containing] A isoform 2	NP_001257387.1:p.Asp337=	D (Asp) > D (Asp)	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.

Allele: C (allele ID: 98570 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000078414.20	not specified	Benign
RCV000715341.2	History of neurodevelopmental disorder	Benign
RCV001513026.7	Brunner syndrome	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	T=	C
GRCh38.p14 chr X	NC_000023.11:g.43744144=	NC_000023.11:g.43744144T>C
GRCh37.p13 chr X	NC_000023.10:g.43603391=	NC_000023.10:g.43603391T>C
MAOA RefSeqGene	NG_008957.2:g.92984=	NG_008957.2:g.92984T>C
MAOA transcript variant 1	NM_000240.4:c.1410=	NM_000240.4:c.1410T>C
MAOA transcript variant 1	NM_000240.3:c.1410=	NM_000240.3:c.1410T>C
MAOA transcript variant 2	NM_001270458.2:c.1011=	NM_001270458.2:c.1011T>C
MAOA transcript variant 2	NM_001270458.1:c.1011=	NM_001270458.1:c.1011T>C
amine oxidase [flavin-containing] A isoform 1	NP_000231.1:p.Asp470=	NP_000231.1:p.Asp470=
amine oxidase [flavin-containing] A isoform 2	NP_001257387.1:p.Asp337=	NP_001257387.1:p.Asp337=

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#.

152 SubSNP, 22 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2421532	Nov 14, 2000 (126)
2	YUSUKE	ss3237543	Sep 28, 2001 (126)
3	ACEVAN	ss4258337	Jan 04, 2002 (126)
4	SNP500CANCER	ss5586752	Jul 02, 2003 (126)
5	SC_SNP	ss8176608	Apr 21, 2003 (126)
6	SC_SNP	ss8491271	Jul 11, 2003 (126)
7	SSAHASNP	ss21072189	Apr 05, 2004 (126)
8	PERLEGEN	ss23816187	Sep 20, 2004 (126)
9	KYUGEN	ss35077285	May 24, 2005 (126)
10	KYUGEN	ss35077286	May 24, 2005 (126)
11	ABI	ss43621903	Mar 10, 2006 (126)
12	ILLUMINA	ss65737637	Oct 15, 2006 (127)
13	ILLUMINA	ss67197061	Nov 30, 2006 (127)
14	ILLUMINA	ss67586078	Nov 30, 2006 (127)
15	ILLUMINA	ss68188872	Dec 12, 2006 (127)
16	PERLEGEN	ss69261376	May 17, 2007 (127)
17	ILLUMINA	ss70675271	May 24, 2008 (130)
18	ILLUMINA	ss71238285	May 17, 2007 (127)
19	ILLUMINA	ss75704075	Dec 07, 2007 (129)
20	CGM_KYOTO	ss76876407	Dec 07, 2007 (129)
21	KRIBB_YJKIM	ss83687489	Dec 15, 2007 (130)
22	PHARMGKB_AB_DME	ss84168435	Dec 15, 2007 (130)
23	CORNELL	ss86272500	Mar 23, 2008 (129)
24	SHGC	ss99307779	Feb 05, 2009 (130)
25	1000GENOMES	ss112871419	Jan 25, 2009 (130)
26	1000GENOMES	ss114663274	Jan 25, 2009 (130)
27	ENSEMBL	ss133970543	Dec 01, 2009 (131)
28	ILLUMINA	ss152983702	Dec 01, 2009 (131)
29	ILLUMINA	ss159174450	Dec 01, 2009 (131)
30	SEATTLESEQ	ss159745304	Dec 01, 2009 (131)
31	ILLUMINA	ss159977519	Dec 01, 2009 (131)
32	COMPLETE_GENOMICS	ss163099013	Jul 04, 2010 (132)
33	COMPLETE_GENOMICS	ss164832363	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss166214162	Jul 04, 2010 (132)
35	ILLUMINA	ss171246754	Jul 04, 2010 (132)
36	BUSHMAN	ss204225403	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss208878436	Jul 04, 2010 (132)
38	ILLUMINA	ss244260970	Jul 04, 2010 (132)
39	ILLUMINA	ss244272383	Jul 04, 2010 (132)
40	BL	ss255983105	May 09, 2011 (134)
41	GMI	ss283741997	May 04, 2012 (137)
42	GMI	ss287608635	Apr 25, 2013 (138)
43	PJP	ss294548274	May 09, 2011 (134)
44	1000GENOMES	ss341453389	May 09, 2011 (134)
45	NHLBI-ESP	ss342552256	May 09, 2011 (134)
46	ILLUMINA	ss479518888	May 04, 2012 (137)
47	ILLUMINA	ss479522750	May 04, 2012 (137)
48	ILLUMINA	ss479975854	Sep 08, 2015 (146)
49	ILLUMINA	ss484558588	May 04, 2012 (137)
50	1000GENOMES	ss491199769	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491950156	May 04, 2012 (137)
52	ILLUMINA	ss536694057	Sep 08, 2015 (146)
53	TISHKOFF	ss566850893	Apr 25, 2013 (138)
54	SSMP	ss662785073	Apr 25, 2013 (138)
55	ILLUMINA	ss778758235	Sep 08, 2015 (146)
56	ILLUMINA	ss782725956	Sep 08, 2015 (146)
57	ILLUMINA	ss783693348	Sep 08, 2015 (146)
58	ILLUMINA	ss831977621	Sep 08, 2015 (146)
59	ILLUMINA	ss832686978	Jul 13, 2019 (153)
60	ILLUMINA	ss834217969	Sep 08, 2015 (146)
61	JMKIDD_LAB	ss974514047	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1067609725	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1082896736	Aug 21, 2014 (142)
64	DDI	ss1432035340	Apr 01, 2015 (144)
65	1000GENOMES	ss1554248717	Apr 01, 2015 (144)
66	EVA_GENOME_DK	ss1583381663	Apr 01, 2015 (144)
67	EVA_UK10K_ALSPAC	ss1640681665	Apr 01, 2015 (144)
68	EVA_UK10K_TWINSUK	ss1683675698	Apr 01, 2015 (144)
69	EVA_EXAC	ss1694497214	Apr 01, 2015 (144)
70	EVA_MGP	ss1711580326	Apr 01, 2015 (144)
71	ILLUMINA	ss1752807005	Sep 08, 2015 (146)
72	WEILL_CORNELL_DGM	ss1939306051	Feb 12, 2016 (147)
73	ILLUMINA	ss1945972279	Feb 12, 2016 (147)
74	ILLUMINA	ss1958190388	Feb 12, 2016 (147)
75	GENOMED	ss1971372812	Jul 19, 2016 (147)
76	USC_VALOUEV	ss2159035125	Dec 20, 2016 (150)
77	HUMAN_LONGEVITY	ss2317050739	Dec 20, 2016 (150)
78	SYSTEMSBIOZJU	ss2629696788	Nov 08, 2017 (151)
79	ILLUMINA	ss2634957228	Nov 08, 2017 (151)
80	ILLUMINA	ss2634957229	Nov 08, 2017 (151)
81	GRF	ss2710156841	Nov 08, 2017 (151)
82	ILLUMINA	ss2711180863	Nov 08, 2017 (151)
83	GNOMAD	ss2745367528	Nov 08, 2017 (151)
84	GNOMAD	ss2746094830	Nov 08, 2017 (151)
85	GNOMAD	ss2978334378	Nov 08, 2017 (151)
86	AFFY	ss2985484024	Nov 08, 2017 (151)
87	AFFY	ss2986130261	Nov 08, 2017 (151)
88	SWEGEN	ss3019897407	Nov 08, 2017 (151)
89	ILLUMINA	ss3023004384	Nov 08, 2017 (151)
90	BIOINF_KMB_FNS_UNIBA	ss3029042121	Nov 08, 2017 (151)
91	ILLUMINA	ss3625997542	Oct 12, 2018 (152)
92	ILLUMINA	ss3630426610	Oct 12, 2018 (152)
93	ILLUMINA	ss3632843581	Oct 12, 2018 (152)
94	ILLUMINA	ss3633557930	Oct 12, 2018 (152)
95	ILLUMINA	ss3634287680	Oct 12, 2018 (152)
96	ILLUMINA	ss3635247832	Oct 12, 2018 (152)
97	ILLUMINA	ss3635965034	Oct 12, 2018 (152)
98	ILLUMINA	ss3636996392	Oct 12, 2018 (152)
99	ILLUMINA	ss3637718500	Oct 12, 2018 (152)
100	ILLUMINA	ss3638856350	Oct 12, 2018 (152)
101	ILLUMINA	ss3639431936	Oct 12, 2018 (152)
102	ILLUMINA	ss3640005767	Oct 12, 2018 (152)
103	ILLUMINA	ss3640955315	Oct 12, 2018 (152)
104	ILLUMINA	ss3643780654	Oct 12, 2018 (152)
105	ILLUMINA	ss3644048211	Oct 12, 2018 (152)
106	ILLUMINA	ss3645011317	Oct 12, 2018 (152)
107	OMUKHERJEE_ADBS	ss3646572041	Oct 12, 2018 (152)
108	URBANLAB	ss3651269117	Oct 12, 2018 (152)
109	ILLUMINA	ss3653562854	Oct 12, 2018 (152)
110	ILLUMINA	ss3654250623	Oct 12, 2018 (152)
111	ILLUMINA	ss3726675399	Jul 13, 2019 (153)
112	ILLUMINA	ss3744329852	Jul 13, 2019 (153)
113	ILLUMINA	ss3745548251	Jul 13, 2019 (153)
114	EVA	ss3770116814	Jul 13, 2019 (153)
115	ILLUMINA	ss3773039955	Jul 13, 2019 (153)
116	PACBIO	ss3788894529	Jul 13, 2019 (153)
117	PACBIO	ss3793758585	Jul 13, 2019 (153)
118	PACBIO	ss3798643661	Jul 13, 2019 (153)
119	KHV_HUMAN_GENOMES	ss3822948529	Jul 13, 2019 (153)
120	EVA	ss3825481325	Apr 27, 2020 (154)
121	EVA	ss3836157997	Apr 27, 2020 (154)
122	EVA	ss3841692101	Apr 27, 2020 (154)
123	EVA	ss3847211246	Apr 27, 2020 (154)
124	HGDP	ss3847972606	Apr 27, 2020 (154)
125	SGDP_PRJ	ss3891343714	Apr 27, 2020 (154)
126	KRGDB	ss3941746631	Apr 27, 2020 (154)
127	FSA-LAB	ss3984440254	Apr 26, 2021 (155)
128	EVA	ss3984765385	Apr 26, 2021 (155)
129	EVA	ss3985942104	Apr 26, 2021 (155)
130	EVA	ss3986089177	Apr 26, 2021 (155)
131	EVA	ss3986876446	Apr 26, 2021 (155)
132	TOPMED	ss5121349321	Apr 26, 2021 (155)
133	TOMMO_GENOMICS	ss5234267192	Apr 26, 2021 (155)
134	EVA	ss5237056010	Apr 26, 2021 (155)
135	1000G_HIGH_COVERAGE	ss5312393595	Oct 16, 2022 (156)
136	TRAN_CS_UWATERLOO	ss5314459227	Oct 16, 2022 (156)
137	EVA	ss5316082188	Oct 16, 2022 (156)
138	HUGCELL_USP	ss5504080386	Oct 16, 2022 (156)
139	1000G_HIGH_COVERAGE	ss5620547697	Oct 16, 2022 (156)
140	EVA	ss5623984800	Oct 16, 2022 (156)
141	EVA	ss5624191329	Oct 16, 2022 (156)
142	SANFORD_IMAGENETICS	ss5665161553	Oct 16, 2022 (156)
143	TOMMO_GENOMICS	ss5795913348	Oct 16, 2022 (156)
144	EVA	ss5800076036	Oct 16, 2022 (156)
145	EVA	ss5800238575	Oct 16, 2022 (156)
146	YY_MCH	ss5819013993	Oct 16, 2022 (156)
147	EVA	ss5848231697	Oct 16, 2022 (156)
148	EVA	ss5848741166	Oct 16, 2022 (156)
149	EVA	ss5857070944	Oct 16, 2022 (156)
150	EVA	ss5936581261	Oct 16, 2022 (156)
151	EVA	ss5978162602	Oct 16, 2022 (156)
152	EVA	ss5981155244	Oct 16, 2022 (156)
153	1000Genomes	NC_000023.10 - 43603391	Oct 12, 2018 (152)
154	1000Genomes_30x	NC_000023.11 - 43744144	Oct 16, 2022 (156)
155	The Avon Longitudinal Study of Parents and Children	NC_000023.10 - 43603391	Oct 12, 2018 (152)
156	ExAC	NC_000023.10 - 43603391	Oct 12, 2018 (152)
157	The Danish reference pan genome	NC_000023.10 - 43603391	Apr 27, 2020 (154)
158	gnomAD - Exomes	NC_000023.10 - 43603391	Jul 13, 2019 (153)
159	GO Exome Sequencing Project	NC_000023.10 - 43603391	Oct 12, 2018 (152)
160	HGDP-CEPH-db Supplement 1	NC_000023.9 - 43488335	Apr 27, 2020 (154)
161	HapMap	NC_000023.11 - 43744144	Apr 27, 2020 (154)
162	KOREAN population from KRGDB	NC_000023.10 - 43603391	Apr 27, 2020 (154)
163	Medical Genome Project healthy controls from Spanish population	NC_000023.10 - 43603391	Apr 27, 2020 (154)
164	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000023.10 - 43603391	Apr 26, 2021 (155)
165	PharmGKB Aggregated	NC_000023.11 - 43744144	Apr 27, 2020 (154)
166	Qatari	NC_000023.10 - 43603391	Apr 27, 2020 (154)
167	SGDP_PRJ	NC_000023.10 - 43603391	Apr 27, 2020 (154)
168	Siberian	NC_000023.10 - 43603391	Apr 27, 2020 (154)
169	8.3KJPN	NC_000023.10 - 43603391	Apr 26, 2021 (155)
170	14KJPN	NC_000023.11 - 43744144	Oct 16, 2022 (156)
171	TopMed	NC_000023.11 - 43744144	Apr 26, 2021 (155)
172	UK 10K study - Twins	NC_000023.10 - 43603391	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000023.10 - 43603391	Jul 13, 2019 (153)
174	ALFA	NC_000023.11 - 43744144	Apr 26, 2021 (155)
175	ClinVar	RCV000078414.20	Oct 16, 2022 (156)
176	ClinVar	RCV000715341.2	Oct 16, 2022 (156)
177	ClinVar	RCV001513026.7	Oct 16, 2022 (156)

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)
rs1801291	Mar 10, 2006 (126)
rs3200740	Oct 09, 2002 (108)
rs11544797	Mar 10, 2006 (126)
rs28969611	Oct 25, 2006 (127)
rs58505679	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639431936, ss3640005767, ss3644048211	NC_000023.8:43359644:T:C	NC_000023.11:43744143:T:C	(self)
650498, ss112871419, ss114663274, ss163099013, ss164832363, ss166214162, ss204225403, ss208878436, ss255983105, ss283741997, ss287608635, ss294548274, ss479518888, ss491950156, ss3643780654, ss3847972606	NC_000023.9:43488334:T:C	NC_000023.11:43744143:T:C	(self)
82225481, 45404822, 9997488, 9546600, 14703514, 1938117, 48924025, 696086, 1168031, 21347973, 43360694, 11551479, 92236499, 45404822, 10008411, ss341453389, ss342552256, ss479522750, ss479975854, ss484558588, ss491199769, ss536694057, ss566850893, ss662785073, ss778758235, ss782725956, ss783693348, ss831977621, ss832686978, ss834217969, ss974514047, ss1067609725, ss1082896736, ss1432035340, ss1554248717, ss1583381663, ss1640681665, ss1683675698, ss1694497214, ss1711580326, ss1752807005, ss1939306051, ss1945972279, ss1958190388, ss1971372812, ss2159035125, ss2629696788, ss2634957228, ss2634957229, ss2710156841, ss2711180863, ss2745367528, ss2746094830, ss2978334378, ss2985484024, ss2986130261, ss3019897407, ss3023004384, ss3625997542, ss3630426610, ss3632843581, ss3633557930, ss3634287680, ss3635247832, ss3635965034, ss3636996392, ss3637718500, ss3638856350, ss3640955315, ss3645011317, ss3646572041, ss3653562854, ss3654250623, ss3744329852, ss3745548251, ss3770116814, ss3773039955, ss3788894529, ss3793758585, ss3798643661, ss3825481325, ss3836157997, ss3841692101, ss3891343714, ss3941746631, ss3984440254, ss3984765385, ss3985942104, ss3986089177, ss3986876446, ss5234267192, ss5316082188, ss5623984800, ss5624191329, ss5665161553, ss5800076036, ss5800238575, ss5848231697, ss5848741166, ss5936581261, ss5978162602, ss5981155244	NC_000023.10:43603390:T:C	NC_000023.11:43744143:T:C	(self)
RCV000078414.20, RCV000715341.2, RCV001513026.7, 108073632, 3978216, 12835, 129750452, 684955678, 12948385198, ss2317050739, ss3029042121, ss3651269117, ss3726675399, ss3822948529, ss3847211246, ss5121349321, ss5237056010, ss5312393595, ss5314459227, ss5504080386, ss5620547697, ss5795913348, ss5819013993, ss5857070944	NC_000023.11:43744143:T:C	NC_000023.11:43744143:T:C	(self)
ss8491271	NT_011568.12:6423258:T:C	NC_000023.11:43744143:T:C	(self)
ss21072189	NT_011568.13:12780:T:C	NC_000023.11:43744143:T:C	(self)
ss2421532, ss3237543, ss4258337, ss5586752, ss8176608, ss23816187, ss35077285, ss35077286, ss43621903, ss65737637, ss67197061, ss67586078, ss68188872, ss69261376, ss70675271, ss71238285, ss75704075, ss76876407, ss83687489, ss84168435, ss86272500, ss99307779, ss133970543, ss152983702, ss159174450, ss159745304, ss159977519, ss171246754, ss244260970, ss244272383	NT_079573.4:6455134:T:C	NC_000023.11:43744143:T:C	(self)

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

37 citations for rs1137070

PMID	Title	Author	Year	Journal
16174289	MAOA haplotypes associated with thrombocyte-MAO activity.	Jansson M et al.	2005	BMC genetics
16272956	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.	Huang S et al.	2005	Pharmacogenetics and genomics
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
18486967	A community-based study of cigarette smoking behavior in relation to variation in three genes involved in dopamine metabolism: Catechol-O-methyltransferase (COMT), dopamine beta-hydroxylase (DBH) and monoamine oxidase-A (MAO-A).	Shiels MS et al.	2008	Preventive medicine
18698231	Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.	Johnson AD et al.	2008	Pharmacogenetics and genomics
18726986	Differential association between MAOA, ADHD and neuropsychological functioning in boys and girls.	Rommelse NN et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
18937309	Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.	Biederman J et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
19100789	Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean.	Yoo HJ et al.	2009	Neuroscience research
19224413	Association of monoamine oxidase A (MAOA) polymorphisms and clinical subgroups of major depressive disorders in the Han Chinese population.	Huang SY et al.	2009	The world journal of biological psychiatry
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
19772600	A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.	Huang LC et al.	2009	Journal of translational medicine
19915868	Monoamine oxidase A gene polymorphisms and enzyme activity associated with risk of gout in Taiwan aborigines.	Tu HP et al.	2010	Human genetics
20691428	A cis-phase interaction study of genetic variants within the MAOA gene in major depressive disorder.	Zhang J et al.	2010	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
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
22832821	Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development.	Ziermans T et al.	2012	Translational psychiatry
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
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
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
24889756	Preliminary investigation of the influence of dopamine regulating genes on social working memory.	Dumontheil I et al.	2014	Social neuroscience
25066260	Functional polymorphisms of the MAO gene with Parkinson disease susceptibility: a meta-analysis.	Sun YX et al.	2014	Journal of the neurological sciences
25777072	The Altered Brain Activation of Phonological Working Memory, Dual Tasking, and Distraction Among Participants With Adult ADHD and the Effect of the MAOA Polymorphism.	Ko CH et al.	2018	Journal of attention disorders
26015071	Effects of Interaction Between Dopamine D2 Receptor and Monoamine Oxidase A Genes on Smoking Status in Young Men.	Huang CL et al.	2015	Biological research for nursing
26227907	MAOA Variants and Genetic Susceptibility to Major Psychiatric Disorders.	Liu Z et al.	2016	Molecular neurobiology
27610078	MAOA Influences the Trajectory of Attentional Development.	Lundwall RA et al.	2016	Frontiers in human neuroscience
28345608	MAOA rs1137070 and heroin addiction interactively alter gray matter volume of the salience network.	Sun Y et al.	2017	Scientific reports
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
29557505	Differences in SNP genotype distributions between complex and simple suicides.	Čugura T et al.	2018	International journal of legal medicine
30123371	Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.	Zhu W et al.	2018	The open rheumatology journal
30456877	Interactions between monoamine oxidase A rs1137070 and smoking on brain structure and function in male smokers.	Shen Z et al.	2019	The European journal of neuroscience
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
31721380	A haplotype-specific linkage disequilibrium pattern of monoamine oxidase A gene associated with regular smoking in women.	Chiang SL et al.	2019	The journal of gene medicine
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
34199135	Roles of Hostility and Depression in the Association between the MAOA Gene Polymorphism and Internet Gaming Disorder.	Yen JY et al.	2021	International journal of environmental research and public health
34795483	Association of Two Variable Number of Tandem Repeats in the Monoamine Oxidase A Gene Promoter with Schizophrenia.	Tanifuji T et al.	2021	Neuropsychiatric disease and treatment

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs1137070