Name: rs2266780
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.

rs2266780

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:171114102 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.172029 (56397/327834, ALFA)
G=0.123953 (32809/264690, TOPMED)
G=0.150471 (37773/251032, GnomAD_exome) (+ 27 more)
G=0.141403 (19816/140138, GnomAD)
G=0.152934 (18524/121124, ExAC)
G=0.08910 (6996/78520, PAGE_STUDY)
G=0.19667 (5557/28256, 14KJPN)
G=0.20137 (3375/16760, 8.3KJPN)
G=0.0865 (554/6404, 1000G_30x)
G=0.0915 (458/5008, 1000G)
G=0.2326 (1042/4480, Estonian)
G=0.1925 (742/3854, ALSPAC)
G=0.1947 (722/3708, TWINSUK)
G=0.1672 (490/2930, KOREAN)
G=0.1627 (298/1832, Korea1K)
G=0.1005 (171/1702, HapMap)
G=0.0792 (90/1136, Daghestan)
G=0.216 (216/998, GoNL)
G=0.159 (121/760, PRJEB37584)
G=0.081 (51/626, Chileans)
G=0.148 (89/603, Vietnamese)
G=0.273 (164/600, NorthernSweden)
G=0.157 (84/534, MGP)
G=0.147 (52/354, PharmGKB)
G=0.243 (74/304, FINRISK)
G=0.042 (9/216, Qatari)
A=0.431 (50/116, SGDP_PRJ)
G=0.10 (10/98, Ancient Sardinia)
G=0.25 (10/40, GENOME_DK)
A=0.40 (8/20, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FMO3 : Missense Variant
Publications: 20 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	349252	A=0.829533	G=0.170467	0.690607	0.031542	0.277851	29
European	Sub	293708	A=0.815586	G=0.184414	0.666179	0.035008	0.298814	4
African	Sub	17520	A=0.95896	G=0.04104	0.91895	0.001027	0.080023	2
African Others	Sub	652	A=0.989	G=0.011	0.978528	0.0	0.021472	0
African American	Sub	16868	A=0.95779	G=0.04221	0.916647	0.001067	0.082286	2
Asian	Sub	3742	A=0.8188	G=0.1812	0.672902	0.035275	0.291823	0
East Asian	Sub	2968	A=0.8288	G=0.1712	0.690701	0.033019	0.27628	1
Other Asian	Sub	774	A=0.780	G=0.220	0.604651	0.043928	0.351421	0
Latin American 1	Sub	1598	A=0.9043	G=0.0957	0.822278	0.013767	0.163955	2
Latin American 2	Sub	9124	A=0.9094	G=0.0906	0.828146	0.009426	0.162429	1
South Asian	Sub	5220	A=0.9469	G=0.0531	0.898467	0.004598	0.096935	2
Other	Sub	18340	A=0.85180	G=0.14820	0.728244	0.024646	0.24711	3

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	327834	A=0.827971	G=0.172029
Allele Frequency Aggregator	European	Sub	280520	A=0.816102	G=0.183898
Allele Frequency Aggregator	Other	Sub	16090	A=0.85140	G=0.14860
Allele Frequency Aggregator	African	Sub	11540	A=0.95806	G=0.04194
Allele Frequency Aggregator	Latin American 2	Sub	9124	A=0.9094	G=0.0906
Allele Frequency Aggregator	South Asian	Sub	5220	A=0.9469	G=0.0531
Allele Frequency Aggregator	Asian	Sub	3742	A=0.8188	G=0.1812
Allele Frequency Aggregator	Latin American 1	Sub	1598	A=0.9043	G=0.0957
TopMed	Global	Study-wide	264690	A=0.876047	G=0.123953
gnomAD - Exomes	Global	Study-wide	251032	A=0.849529	G=0.150471
gnomAD - Exomes	European	Sub	135112	A=0.798538	G=0.201462
gnomAD - Exomes	Asian	Sub	48970	A=0.90153	G=0.09847
gnomAD - Exomes	American	Sub	34518	A=0.91118	G=0.08882
gnomAD - Exomes	African	Sub	16254	A=0.96302	G=0.03698
gnomAD - Exomes	Ashkenazi Jewish	Sub	10070	A=0.88312	G=0.11688
gnomAD - Exomes	Other	Sub	6108	A=0.8548	G=0.1452
gnomAD - Genomes	Global	Study-wide	140138	A=0.858597	G=0.141403
gnomAD - Genomes	European	Sub	75878	A=0.79716	G=0.20284
gnomAD - Genomes	African	Sub	42012	A=0.95785	G=0.04215
gnomAD - Genomes	American	Sub	13648	A=0.89808	G=0.10192
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.8829	G=0.1171
gnomAD - Genomes	East Asian	Sub	3124	A=0.8073	G=0.1927
gnomAD - Genomes	Other	Sub	2154	A=0.8737	G=0.1263
ExAC	Global	Study-wide	121124	A=0.847066	G=0.152934
ExAC	Europe	Sub	73224	A=0.80023	G=0.19977
ExAC	Asian	Sub	25078	A=0.90486	G=0.09514
ExAC	American	Sub	11514	A=0.91523	G=0.08477
ExAC	African	Sub	10402	A=0.96116	G=0.03884
ExAC	Other	Sub	906	A=0.857	G=0.143
The PAGE Study	Global	Study-wide	78520	A=0.91090	G=0.08910
The PAGE Study	AfricanAmerican	Sub	32450	A=0.95233	G=0.04767
The PAGE Study	Mexican	Sub	10794	A=0.90458	G=0.09542
The PAGE Study	Asian	Sub	8278	A=0.8059	G=0.1941
The PAGE Study	PuertoRican	Sub	7900	A=0.9100	G=0.0900
The PAGE Study	NativeHawaiian	Sub	4520	A=0.8440	G=0.1560
The PAGE Study	Cuban	Sub	4220	A=0.8836	G=0.1164
The PAGE Study	Dominican	Sub	3820	A=0.9154	G=0.0846
The PAGE Study	CentralAmerican	Sub	2446	A=0.9231	G=0.0769
The PAGE Study	SouthAmerican	Sub	1982	A=0.9168	G=0.0832
The PAGE Study	NativeAmerican	Sub	1254	A=0.8573	G=0.1427
The PAGE Study	SouthAsian	Sub	856	A=0.942	G=0.058
14KJPN	JAPANESE	Study-wide	28256	A=0.80333	G=0.19667
8.3KJPN	JAPANESE	Study-wide	16760	A=0.79863	G=0.20137
1000Genomes_30x	Global	Study-wide	6404	A=0.9135	G=0.0865
1000Genomes_30x	African	Sub	1786	A=0.9826	G=0.0174
1000Genomes_30x	Europe	Sub	1266	A=0.8318	G=0.1682
1000Genomes_30x	South Asian	Sub	1202	A=0.9700	G=0.0300
1000Genomes_30x	East Asian	Sub	1170	A=0.8299	G=0.1701
1000Genomes_30x	American	Sub	980	A=0.923	G=0.077
1000Genomes	Global	Study-wide	5008	A=0.9085	G=0.0915
1000Genomes	African	Sub	1322	A=0.9811	G=0.0189
1000Genomes	East Asian	Sub	1008	A=0.8313	G=0.1687
1000Genomes	Europe	Sub	1006	A=0.8280	G=0.1720
1000Genomes	South Asian	Sub	978	A=0.966	G=0.034
1000Genomes	American	Sub	694	A=0.918	G=0.082
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7674	G=0.2326
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8075	G=0.1925
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8053	G=0.1947
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8328	G=0.1672
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8373	G=0.1627
HapMap	Global	Study-wide	1702	A=0.8995	G=0.1005
HapMap	American	Sub	764	A=0.874	G=0.126
HapMap	African	Sub	510	A=0.988	G=0.012
HapMap	Asian	Sub	254	A=0.819	G=0.181
HapMap	Europe	Sub	174	A=0.868	G=0.132
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.9208	G=0.0792
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.920	G=0.080
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.944	G=0.056
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.885	G=0.115
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.870	G=0.130
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.96	G=0.04
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=1.00	G=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.784	G=0.216
CNV burdens in cranial meningiomas	Global	Study-wide	760	A=0.841	G=0.159
CNV burdens in cranial meningiomas	CRM	Sub	760	A=0.841	G=0.159
Chileans	Chilean	Study-wide	626	A=0.919	G=0.081
A Vietnamese Genetic Variation Database	Global	Study-wide	603	A=0.852	G=0.148
Northern Sweden	ACPOP	Study-wide	600	A=0.727	G=0.273
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.843	G=0.157
PharmGKB Aggregated	Global	Study-wide	354	A=0.853	G=0.147
PharmGKB Aggregated	PA150304816	Sub	354	A=0.853	G=0.147
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.757	G=0.243
Qatari	Global	Study-wide	216	A=0.958	G=0.042
SGDP_PRJ	Global	Study-wide	116	A=0.431	G=0.569
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	98	A=0.90	G=0.10
The Danish reference pan genome	Danish	Study-wide	40	A=0.75	G=0.25
Siberian	Global	Study-wide	20	A=0.40	G=0.60

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 1	NC_000001.11:g.171114102A>G
GRCh37.p13 chr 1	NC_000001.10:g.171083242A>G
FMO3 RefSeqGene	NG_012690.2:g.28199A>G
FMO3 RefSeqGene	NG_012690.1:g.28225A>G

Gene: FMO3, flavin containing dimethylaniline monoxygenase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FMO3 transcript variant 2	NM_001002294.3:c.923A>G	E [GAG] > G [GGG]	Coding Sequence Variant
flavin-containing monooxygenase 3 isoform a	NP_001002294.1:p.Glu308Gly	E (Glu) > G (Gly)	Missense Variant
FMO3 transcript variant 1	NM_006894.6:c.923A>G	E [GAG] > G [GGG]	Coding Sequence Variant
flavin-containing monooxygenase 3 isoform a	NP_008825.4:p.Glu308Gly	E (Glu) > G (Gly)	Missense Variant
FMO3 transcript variant 4	NM_001319174.2:c.734A>G	E [GAG] > G [GGG]	Coding Sequence Variant
flavin-containing monooxygenase 3 isoform c	NP_001306103.1:p.Glu245Gly	E (Glu) > G (Gly)	Missense Variant
FMO3 transcript variant 3	NM_001319173.2:c.863A>G	E [GAG] > G [GGG]	Coding Sequence Variant
flavin-containing monooxygenase 3 isoform b	NP_001306102.1:p.Glu288Gly	E (Glu) > G (Gly)	Missense Variant
FMO3 transcript variant X1	XM_047416207.1:c.863A>G	E [GAG] > G [GGG]	Coding Sequence Variant
flavin-containing monooxygenase 3 isoform X1	XP_047272163.1:p.Glu288Gly	E (Glu) > G (Gly)	Missense 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: G (allele ID: 31357 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000017711.6	Trimethylaminuria, mild	Pathogenic
RCV000201276.1	Trimethylaminuria	Likely-Pathogenic
RCV000254132.1	not specified	Benign
RCV000290538.6	Trimethylaminuria	Benign-Likely-Benign
RCV001642531.2	not provided	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	A=	G
GRCh38.p14 chr 1	NC_000001.11:g.171114102=	NC_000001.11:g.171114102A>G
GRCh37.p13 chr 1	NC_000001.10:g.171083242=	NC_000001.10:g.171083242A>G
FMO3 RefSeqGene	NG_012690.2:g.28199=	NG_012690.2:g.28199A>G
FMO3 RefSeqGene	NG_012690.1:g.28225=	NG_012690.1:g.28225A>G
FMO3 transcript variant 1	NM_006894.6:c.923=	NM_006894.6:c.923A>G
FMO3 transcript variant 1	NM_006894.5:c.923=	NM_006894.5:c.923A>G
FMO3 transcript variant 2	NM_001002294.3:c.923=	NM_001002294.3:c.923A>G
FMO3 transcript variant 2	NM_001002294.2:c.923=	NM_001002294.2:c.923A>G
FMO3 transcript variant 3	NM_001319173.2:c.863=	NM_001319173.2:c.863A>G
FMO3 transcript variant 3	NM_001319173.1:c.863=	NM_001319173.1:c.863A>G
FMO3 transcript variant 4	NM_001319174.2:c.734=	NM_001319174.2:c.734A>G
FMO3 transcript variant 4	NM_001319174.1:c.734=	NM_001319174.1:c.734A>G
FMO3 transcript variant X1	XM_047416207.1:c.863=	XM_047416207.1:c.863A>G
flavin-containing monooxygenase 3 isoform a	NP_008825.4:p.Glu308=	NP_008825.4:p.Glu308Gly
flavin-containing monooxygenase 3 isoform a	NP_001002294.1:p.Glu308=	NP_001002294.1:p.Glu308Gly
flavin-containing monooxygenase 3 isoform b	NP_001306102.1:p.Glu288=	NP_001306102.1:p.Glu288Gly
flavin-containing monooxygenase 3 isoform c	NP_001306103.1:p.Glu245=	NP_001306103.1:p.Glu245Gly
flavin-containing monooxygenase 3 isoform X1	XP_047272163.1:p.Glu288=	XP_047272163.1:p.Glu288Gly

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#.

145 SubSNP, 30 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	UWGC	ss2978147	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss19127749	Feb 27, 2004 (120)
3	PERLEGEN	ss24271795	Sep 20, 2004 (123)
4	EGP_SNPS	ss35038127	May 24, 2005 (125)
5	ABI	ss43995755	Mar 14, 2006 (126)
6	AFFY	ss66115318	Nov 29, 2006 (127)
7	PERLEGEN	ss68784568	May 16, 2007 (127)
8	ILLUMINA	ss74865612	Dec 07, 2007 (129)
9	AFFY	ss76100916	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss81743054	Dec 14, 2007 (130)
11	PHARMGKB_AB_DME	ss84154598	Dec 14, 2007 (130)
12	CANCER-GENOME	ss86342174	Mar 23, 2008 (129)
13	SNP500CANCER	ss105439835	Feb 04, 2009 (130)
14	1000GENOMES	ss108695871	Jan 23, 2009 (130)
15	ILLUMINA	ss153896145	Dec 01, 2009 (131)
16	ILLUMINA	ss159373995	Dec 01, 2009 (131)
17	ILLUMINA	ss160523890	Dec 01, 2009 (131)
18	ENSEMBL	ss161187924	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss165424738	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss167270370	Jul 04, 2010 (132)
21	AFFY	ss172507543	Jul 04, 2010 (132)
22	ILLUMINA	ss173225335	Jul 04, 2010 (132)
23	GENEREVIEWS	ss181339510	Dec 02, 2009 (131)
24	1000GENOMES	ss230779166	Jul 14, 2010 (132)
25	1000GENOMES	ss238416935	Jul 15, 2010 (132)
26	GMI	ss276098882	May 04, 2012 (137)
27	GMI	ss284174249	Apr 25, 2013 (138)
28	NHLBI-ESP	ss342010780	May 09, 2011 (134)
29	ILLUMINA	ss480491991	May 04, 2012 (137)
30	ILLUMINA	ss480506366	May 04, 2012 (137)
31	ILLUMINA	ss481309874	Sep 08, 2015 (146)
32	ILLUMINA	ss485043533	May 04, 2012 (137)
33	1000GENOMES	ss489777294	May 04, 2012 (137)
34	EXOME_CHIP	ss491305880	May 04, 2012 (137)
35	CLINSEQ_SNP	ss491609452	May 04, 2012 (137)
36	ILLUMINA	ss537064549	Sep 08, 2015 (146)
37	TISHKOFF	ss554840482	Apr 25, 2013 (138)
38	SSMP	ss648494832	Apr 25, 2013 (138)
39	ILLUMINA	ss778861719	Sep 08, 2015 (146)
40	ILLUMINA	ss782967988	Sep 08, 2015 (146)
41	ILLUMINA	ss783929747	Sep 08, 2015 (146)
42	ILLUMINA	ss832224274	Sep 08, 2015 (146)
43	ILLUMINA	ss832885808	Jul 12, 2019 (153)
44	ILLUMINA	ss834322520	Sep 08, 2015 (146)
45	JMKIDD_LAB	ss974438274	Aug 21, 2014 (142)
46	EVA-GONL	ss975806558	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067428805	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1068359908	Aug 21, 2014 (142)
49	1000GENOMES	ss1293392056	Aug 21, 2014 (142)
50	HAMMER_LAB	ss1397263947	Sep 08, 2015 (146)
51	DDI	ss1426016290	Apr 01, 2015 (144)
52	EVA_GENOME_DK	ss1574472065	Apr 01, 2015 (144)
53	EVA_FINRISK	ss1584012893	Apr 01, 2015 (144)
54	EVA_DECODE	ss1585192891	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1601463179	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1644457212	Apr 01, 2015 (144)
57	EVA_EXAC	ss1685909579	Apr 01, 2015 (144)
58	EVA_MGP	ss1710932457	Apr 01, 2015 (144)
59	EVA_SVP	ss1712381048	Apr 01, 2015 (144)
60	ILLUMINA	ss1751881030	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1919043411	Feb 12, 2016 (147)
62	ILLUMINA	ss1946014668	Feb 12, 2016 (147)
63	ILLUMINA	ss1958331669	Feb 12, 2016 (147)
64	GENOMED	ss1966897226	Jul 19, 2016 (147)
65	JJLAB	ss2020037870	Sep 14, 2016 (149)
66	USC_VALOUEV	ss2148065355	Dec 20, 2016 (150)
67	HUMAN_LONGEVITY	ss2167478567	Dec 20, 2016 (150)
68	ILLUMINA	ss2632592155	Nov 08, 2017 (151)
69	ILLUMINA	ss2632592156	Nov 08, 2017 (151)
70	GRF	ss2698043345	Nov 08, 2017 (151)
71	ILLUMINA	ss2710685687	Nov 08, 2017 (151)
72	GNOMAD	ss2732051702	Nov 08, 2017 (151)
73	GNOMAD	ss2746496772	Nov 08, 2017 (151)
74	GNOMAD	ss2762626036	Nov 08, 2017 (151)
75	AFFY	ss2984885107	Nov 08, 2017 (151)
76	AFFY	ss2985530394	Nov 08, 2017 (151)
77	SWEGEN	ss2987941778	Nov 08, 2017 (151)
78	ILLUMINA	ss3021151013	Nov 08, 2017 (151)
79	BIOINF_KMB_FNS_UNIBA	ss3023777595	Nov 08, 2017 (151)
80	CSIRBIOHTS	ss3029637261	Nov 08, 2017 (151)
81	CSHL	ss3343767025	Nov 08, 2017 (151)
82	ILLUMINA	ss3625554110	Oct 11, 2018 (152)
83	ILLUMINA	ss3626238935	Oct 11, 2018 (152)
84	ILLUMINA	ss3630623950	Oct 11, 2018 (152)
85	ILLUMINA	ss3633610447	Oct 11, 2018 (152)
86	ILLUMINA	ss3634357965	Oct 11, 2018 (152)
87	ILLUMINA	ss3635303792	Oct 11, 2018 (152)
88	ILLUMINA	ss3636036878	Oct 11, 2018 (152)
89	ILLUMINA	ss3637054296	Oct 11, 2018 (152)
90	ILLUMINA	ss3637795573	Oct 11, 2018 (152)
91	ILLUMINA	ss3640065319	Oct 11, 2018 (152)
92	ILLUMINA	ss3642803803	Oct 11, 2018 (152)
93	ILLUMINA	ss3644510622	Oct 11, 2018 (152)
94	OMUKHERJEE_ADBS	ss3646248823	Oct 11, 2018 (152)
95	ILLUMINA	ss3651487849	Oct 11, 2018 (152)
96	ILLUMINA	ss3653654438	Oct 11, 2018 (152)
97	EGCUT_WGS	ss3655885675	Jul 12, 2019 (153)
98	EVA_DECODE	ss3688011163	Jul 12, 2019 (153)
99	ILLUMINA	ss3725079107	Jul 12, 2019 (153)
100	ACPOP	ss3727589651	Jul 12, 2019 (153)
101	ILLUMINA	ss3744056079	Jul 12, 2019 (153)
102	ILLUMINA	ss3744658840	Jul 12, 2019 (153)
103	EVA	ss3746951546	Jul 12, 2019 (153)
104	PAGE_CC	ss3770851689	Jul 12, 2019 (153)
105	ILLUMINA	ss3772159881	Jul 12, 2019 (153)
106	KHV_HUMAN_GENOMES	ss3799953521	Jul 12, 2019 (153)
107	EVA	ss3823685044	Apr 25, 2020 (154)
108	EVA	ss3825580529	Apr 25, 2020 (154)
109	EVA	ss3826487000	Apr 25, 2020 (154)
110	SGDP_PRJ	ss3850247827	Apr 25, 2020 (154)
111	KRGDB	ss3895485400	Apr 25, 2020 (154)
112	KOGIC	ss3945882888	Apr 25, 2020 (154)
113	FSA-LAB	ss3983953733	Apr 25, 2021 (155)
114	EVA	ss3984467053	Apr 25, 2021 (155)
115	EVA	ss3984833506	Apr 25, 2021 (155)
116	EVA	ss3986014000	Apr 25, 2021 (155)
117	EVA	ss3986147113	Apr 25, 2021 (155)
118	EVA	ss4016945399	Apr 25, 2021 (155)
119	TOPMED	ss4472361887	Apr 25, 2021 (155)
120	TOMMO_GENOMICS	ss5147006693	Apr 25, 2021 (155)
121	EVA	ss5236875679	Apr 25, 2021 (155)
122	EVA	ss5237165014	Apr 25, 2021 (155)
123	EVA	ss5237276364	Apr 25, 2021 (155)
124	EVA	ss5237633480	Oct 12, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5244695766	Oct 12, 2022 (156)
126	TRAN_CS_UWATERLOO	ss5314398071	Oct 12, 2022 (156)
127	EVA	ss5314660526	Oct 12, 2022 (156)
128	EVA	ss5322786910	Oct 12, 2022 (156)
129	HUGCELL_USP	ss5445241717	Oct 12, 2022 (156)
130	EVA	ss5506070172	Oct 12, 2022 (156)
131	1000G_HIGH_COVERAGE	ss5518226986	Oct 12, 2022 (156)
132	SANFORD_IMAGENETICS	ss5624221604	Oct 12, 2022 (156)
133	SANFORD_IMAGENETICS	ss5626823489	Oct 12, 2022 (156)
134	TOMMO_GENOMICS	ss5674356017	Oct 12, 2022 (156)
135	EVA	ss5800087347	Oct 12, 2022 (156)
136	YY_MCH	ss5801363110	Oct 12, 2022 (156)
137	EVA	ss5832826703	Oct 12, 2022 (156)
138	EVA	ss5847169214	Oct 12, 2022 (156)
139	EVA	ss5847562649	Oct 12, 2022 (156)
140	EVA	ss5848277980	Oct 12, 2022 (156)
141	EVA	ss5849157205	Oct 12, 2022 (156)
142	EVA	ss5910708677	Oct 12, 2022 (156)
143	EVA	ss5938627215	Oct 12, 2022 (156)
144	EVA	ss5979294728	Oct 12, 2022 (156)
145	EVA	ss5979997746	Oct 12, 2022 (156)
146	1000Genomes	NC_000001.10 - 171083242	Oct 11, 2018 (152)
147	1000Genomes_30x	NC_000001.11 - 171114102	Oct 12, 2022 (156)
148	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 171083242	Oct 11, 2018 (152)
149	Chileans	NC_000001.10 - 171083242	Apr 25, 2020 (154)
150	Genome-wide autozygosity in Daghestan	NC_000001.9 - 169349866	Apr 25, 2020 (154)
151	Genetic variation in the Estonian population	NC_000001.10 - 171083242	Oct 11, 2018 (152)
152	ExAC	NC_000001.10 - 171083242	Oct 11, 2018 (152)
153	FINRISK	NC_000001.10 - 171083242	Apr 25, 2020 (154)
154	The Danish reference pan genome	NC_000001.10 - 171083242	Apr 25, 2020 (154)
155	gnomAD - Genomes	NC_000001.11 - 171114102	Apr 25, 2021 (155)
156	gnomAD - Exomes	NC_000001.10 - 171083242	Jul 12, 2019 (153)
157	Genome of the Netherlands Release 5	NC_000001.10 - 171083242	Apr 25, 2020 (154)
158	HapMap	NC_000001.11 - 171114102	Apr 25, 2020 (154)
159	KOREAN population from KRGDB	NC_000001.10 - 171083242	Apr 25, 2020 (154)
160	Korean Genome Project	NC_000001.11 - 171114102	Apr 25, 2020 (154)
161	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 171083242	Apr 25, 2020 (154)
162	Northern Sweden	NC_000001.10 - 171083242	Jul 12, 2019 (153)
163	The PAGE Study	NC_000001.11 - 171114102	Jul 12, 2019 (153)
164	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 171083242	Apr 25, 2021 (155)
165	CNV burdens in cranial meningiomas	NC_000001.10 - 171083242	Apr 25, 2021 (155)
166	PharmGKB Aggregated	NC_000001.11 - 171114102	Apr 25, 2020 (154)
167	Qatari	NC_000001.10 - 171083242	Apr 25, 2020 (154)
168	SGDP_PRJ	NC_000001.10 - 171083242	Apr 25, 2020 (154)
169	Siberian	NC_000001.10 - 171083242	Apr 25, 2020 (154)
170	8.3KJPN	NC_000001.10 - 171083242	Apr 25, 2021 (155)
171	14KJPN	NC_000001.11 - 171114102	Oct 12, 2022 (156)
172	TopMed	NC_000001.11 - 171114102	Apr 25, 2021 (155)
173	UK 10K study - Twins	NC_000001.10 - 171083242	Oct 11, 2018 (152)
174	A Vietnamese Genetic Variation Database	NC_000001.10 - 171083242	Jul 12, 2019 (153)
175	ALFA	NC_000001.11 - 171114102	Apr 25, 2021 (155)
176	ClinVar	RCV000017711.6	Oct 11, 2018 (152)
177	ClinVar	RCV000201276.1	Oct 11, 2018 (152)
178	ClinVar	RCV000254132.1	Oct 11, 2018 (152)
179	ClinVar	RCV000290538.6	Oct 12, 2022 (156)
180	ClinVar	RCV001642531.2	Oct 12, 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)
rs17564742	Oct 07, 2004 (123)
rs57076237	May 23, 2008 (130)
rs57860801	Feb 26, 2009 (130)
rs80356549	Oct 26, 2010 (133)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
25153, ss108695871, ss165424738, ss167270370, ss276098882, ss284174249, ss480491991, ss491609452, ss1397263947, ss1585192891, ss1712381048, ss3642803803	NC_000001.9:169349865:A:G	NC_000001.11:171114101:A:G	(self)
4200099, 2294432, 24521, 1623923, 5135406, 9354, 1757704, 1080629, 998636, 2662794, 49209, 874516, 59433, 16371, 1085341, 2264807, 581709, 4976000, 2294432, 493451, ss230779166, ss238416935, ss342010780, ss480506366, ss481309874, ss485043533, ss489777294, ss491305880, ss537064549, ss554840482, ss648494832, ss778861719, ss782967988, ss783929747, ss832224274, ss832885808, ss834322520, ss974438274, ss975806558, ss1067428805, ss1068359908, ss1293392056, ss1426016290, ss1574472065, ss1584012893, ss1601463179, ss1644457212, ss1685909579, ss1710932457, ss1751881030, ss1919043411, ss1946014668, ss1958331669, ss1966897226, ss2020037870, ss2148065355, ss2632592155, ss2632592156, ss2698043345, ss2710685687, ss2732051702, ss2746496772, ss2762626036, ss2984885107, ss2985530394, ss2987941778, ss3021151013, ss3029637261, ss3343767025, ss3625554110, ss3626238935, ss3630623950, ss3633610447, ss3634357965, ss3635303792, ss3636036878, ss3637054296, ss3637795573, ss3640065319, ss3644510622, ss3646248823, ss3651487849, ss3653654438, ss3655885675, ss3727589651, ss3744056079, ss3744658840, ss3746951546, ss3772159881, ss3823685044, ss3825580529, ss3826487000, ss3850247827, ss3895485400, ss3983953733, ss3984467053, ss3984833506, ss3986014000, ss3986147113, ss4016945399, ss5147006693, ss5237276364, ss5314660526, ss5322786910, ss5506070172, ss5624221604, ss5626823489, ss5800087347, ss5832826703, ss5847169214, ss5847562649, ss5848277980, ss5938627215, ss5979294728, ss5979997746	NC_000001.10:171083241:A:G	NC_000001.11:171114101:A:G	(self)
RCV000017711.6, RCV000201276.1, RCV000254132.1, RCV000290538.6, RCV001642531.2, 5752921, 30380042, 202687, 2260889, 73158, 641, 8193121, 35968222, 11940659433, ss181339510, ss2167478567, ss3023777595, ss3688011163, ss3725079107, ss3770851689, ss3799953521, ss3945882888, ss4472361887, ss5236875679, ss5237165014, ss5237633480, ss5244695766, ss5314398071, ss5445241717, ss5518226986, ss5674356017, ss5801363110, ss5849157205, ss5910708677	NC_000001.11:171114101:A:G	NC_000001.11:171114101:A:G	(self)
ss19127749	NT_004487.16:131734:A:G	NC_000001.11:171114101:A:G	(self)
ss2978147, ss24271795, ss35038127, ss43995755, ss66115318, ss68784568, ss74865612, ss76100916, ss81743054, ss84154598, ss86342174, ss105439835, ss153896145, ss159373995, ss160523890, ss161187924, ss172507543, ss173225335	NT_004487.19:22571883:A:G	NC_000001.11:171114101:A:G	(self)

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

20 citations for rs2266780

PMID	Title	Author	Year	Journal
9536088	Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.	Treacy EP et al.	1998	Human molecular genetics
10479479	Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort.	Akerman BR et al.	1999	Molecular genetics and metabolism
10485731	Mild trimethylaminuria caused by common variants in FMO3 gene.	Zschocke J et al.	1999	Lancet (London, England)
10896299	Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency.	Zschocke J et al.	2000	Journal of inherited metabolic disease
11809920	Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression.	Koukouritaki SB et al.	2002	Pediatric research
15858076	Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.	Koukouritaki SB et al.	2005	Molecular pharmacology
18565990	Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.	Saccone SF et al.	2008	Bioinformatics (Oxford, England)
20301282	Primary Trimethylaminuria.	Phillips IR et al.	1993	GeneReviews(®)
22409263	Flavin-containing monooxygenase 3 gene polymorphisms in Turkish population.	Ozhan G et al.	2012	Toxicology mechanisms and methods
22871999	Concordance of DMET plus genotyping results with those of orthogonal genotyping methods.	Fernandez CA et al.	2012	Clinical pharmacology and therapeutics
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics
24165757	The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation.	Uppugunduri CR et al.	2014	The pharmacogenomics journal
24173915	Effects of single-nucleotide polymorphisms of FMO3 and FMO6 genes on pharmacokinetic characteristics of sulindac sulfide in premature labor.	Park S et al.	2014	Drug metabolism and disposition
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
27513517	Association of FMO3 Variants and Trimethylamine N-Oxide Concentration, Disease Progression, and Mortality in CKD Patients.	Robinson-Cohen C et al.	2016	PloS one
28290528	Nicotine dependence is associated with functional variation in FMO3, an enzyme that metabolizes nicotine in the brain.	Teitelbaum AM et al.	2018	The pharmacogenomics journal
28819071	Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver.	Xu M et al.	2017	The Journal of pharmacology and experimental therapeutics
29795455	Minor diplotypes of FMO3 might protect children and adolescents from obesity and insulin resistance.	Morandi A et al.	2018	International journal of obesity (2005)
31932875	Variability of voriconazole concentrations in patients with hematopoietic stem cell transplantation and hematological malignancies: influence of loading dose, procalcitonin, and pregnane X receptor polymorphisms.	Zeng G et al.	2020	European journal of clinical pharmacology
34512362	Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans.	Park JW et al.	2021	Frontiers in pharmacology

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

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2266780