Name: rs11737901
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.

rs11737901

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:1430501 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.222426 (58874/264690, TOPMED)
T=0.325191 (46248/142218, ALFA)
T=0.235197 (32945/140074, GnomAD) (+ 13 more)
T=0.1296 (830/6404, 1000G_30x)
T=0.1320 (661/5008, 1000G)
T=0.2717 (1217/4480, Estonian)
T=0.3747 (1444/3854, ALSPAC)
T=0.3592 (1332/3708, TWINSUK)
T=0.0007 (2/2920, KOREAN)
T=0.381 (380/998, GoNL)
T=0.312 (187/600, NorthernSweden)
T=0.083 (27/326, HapMap)
T=0.213 (46/216, Qatari)
C=0.412 (56/136, SGDP_PRJ)
T=0.33 (13/40, GENOME_DK)
C=0.39 (7/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC6A3 : Intron Variant
Publications: 2 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	142218	C=0.674809	T=0.325191
European	Sub	122754	C=0.651523	T=0.348477
African	Sub	5534	C=0.9339	T=0.0661
African Others	Sub	208	C=1.000	T=0.000
African American	Sub	5326	C=0.9313	T=0.0687
Asian	Sub	622	C=0.995	T=0.005
East Asian	Sub	490	C=0.998	T=0.002
Other Asian	Sub	132	C=0.985	T=0.015
Latin American 1	Sub	738	C=0.780	T=0.220
Latin American 2	Sub	6258	C=0.8319	T=0.1681
South Asian	Sub	184	C=0.701	T=0.299
Other	Sub	6128	C=0.7009	T=0.2991

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	C=0.777574	T=0.222426
Allele Frequency Aggregator	Total	Global	142218	C=0.674809	T=0.325191
Allele Frequency Aggregator	European	Sub	122754	C=0.651523	T=0.348477
Allele Frequency Aggregator	Latin American 2	Sub	6258	C=0.8319	T=0.1681
Allele Frequency Aggregator	Other	Sub	6128	C=0.7009	T=0.2991
Allele Frequency Aggregator	African	Sub	5534	C=0.9339	T=0.0661
Allele Frequency Aggregator	Latin American 1	Sub	738	C=0.780	T=0.220
Allele Frequency Aggregator	Asian	Sub	622	C=0.995	T=0.005
Allele Frequency Aggregator	South Asian	Sub	184	C=0.701	T=0.299
gnomAD - Genomes	Global	Study-wide	140074	C=0.764803	T=0.235197
gnomAD - Genomes	European	Sub	75830	C=0.66201	T=0.33799
gnomAD - Genomes	African	Sub	42006	C=0.93306	T=0.06694
gnomAD - Genomes	American	Sub	13638	C=0.78157	T=0.21843
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7051	T=0.2949
gnomAD - Genomes	East Asian	Sub	3132	C=0.9974	T=0.0026
gnomAD - Genomes	Other	Sub	2148	C=0.7500	T=0.2500
1000Genomes_30x	Global	Study-wide	6404	C=0.8704	T=0.1296
1000Genomes_30x	African	Sub	1786	C=0.9888	T=0.0112
1000Genomes_30x	Europe	Sub	1266	C=0.6809	T=0.3191
1000Genomes_30x	South Asian	Sub	1202	C=0.8178	T=0.1822
1000Genomes_30x	East Asian	Sub	1170	C=0.9974	T=0.0026
1000Genomes_30x	American	Sub	980	C=0.812	T=0.188
1000Genomes	Global	Study-wide	5008	C=0.8680	T=0.1320
1000Genomes	African	Sub	1322	C=0.9879	T=0.0121
1000Genomes	East Asian	Sub	1008	C=0.9970	T=0.0030
1000Genomes	Europe	Sub	1006	C=0.6789	T=0.3211
1000Genomes	South Asian	Sub	978	C=0.814	T=0.186
1000Genomes	American	Sub	694	C=0.803	T=0.197
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7283	T=0.2717
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6253	T=0.3747
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6408	T=0.3592
KOREAN population from KRGDB	KOREAN	Study-wide	2920	C=0.9993	T=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.619	T=0.381
Northern Sweden	ACPOP	Study-wide	600	C=0.688	T=0.312
HapMap	Global	Study-wide	326	C=0.917	T=0.083
HapMap	African	Sub	120	C=1.000	T=0.000
HapMap	American	Sub	116	C=0.767	T=0.233
HapMap	Asian	Sub	90	C=1.00	T=0.00
Qatari	Global	Study-wide	216	C=0.787	T=0.213
SGDP_PRJ	Global	Study-wide	136	C=0.412	T=0.588
The Danish reference pan genome	Danish	Study-wide	40	C=0.68	T=0.33
Siberian	Global	Study-wide	18	C=0.39	T=0.61

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 5	NC_000005.10:g.1430501C>T
GRCh37.p13 chr 5	NC_000005.9:g.1430616C>T
SLC6A3 RefSeqGene	NG_015885.1:g.19928G>A
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1	NT_187547.1:g.79272G>A

Gene: SLC6A3, solute carrier family 6 member 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC6A3 transcript	NM_001044.5:c.653+1963G>A	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.

Not Reported in ClinVar

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	C=	T
GRCh38.p14 chr 5	NC_000005.10:g.1430501=	NC_000005.10:g.1430501C>T
GRCh37.p13 chr 5	NC_000005.9:g.1430616=	NC_000005.9:g.1430616C>T
SLC6A3 RefSeqGene	NG_015885.1:g.19928=	NG_015885.1:g.19928G>A
GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1	NT_187547.1:g.79272=	NT_187547.1:g.79272G>A
SLC6A3 transcript	NM_001044.4:c.653+1963=	NM_001044.4:c.653+1963G>A
SLC6A3 transcript	NM_001044.5:c.653+1963=	NM_001044.5:c.653+1963G>A

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#.

85 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17047630	Feb 28, 2004 (120)
2	SSAHASNP	ss22217984	Apr 05, 2004 (121)
3	PERLEGEN	ss24364025	Sep 20, 2004 (123)
4	EGP_SNPS	ss35033727	May 24, 2005 (125)
5	ABI	ss44617340	Mar 14, 2006 (126)
6	PERLEGEN	ss68923840	May 16, 2007 (127)
7	HUMANGENOME_JCVI	ss98689082	Feb 04, 2009 (130)
8	1000GENOMES	ss108734060	Jan 23, 2009 (130)
9	ENSEMBL	ss144116417	Dec 01, 2009 (131)
10	ILLUMINA	ss159999207	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss165998384	Jul 04, 2010 (132)
12	1000GENOMES	ss232792699	Jul 14, 2010 (132)
13	BL	ss253150072	May 09, 2011 (134)
14	GMI	ss285103021	Apr 25, 2013 (138)
15	PJP	ss293340790	May 09, 2011 (134)
16	ILLUMINA	ss479579968	May 04, 2012 (137)
17	ILLUMINA	ss479584285	May 04, 2012 (137)
18	ILLUMINA	ss480062612	Sep 08, 2015 (146)
19	ILLUMINA	ss484588737	May 04, 2012 (137)
20	ILLUMINA	ss536718245	Sep 08, 2015 (146)
21	SSMP	ss651991216	Apr 25, 2013 (138)
22	ILLUMINA	ss778764647	Sep 08, 2015 (146)
23	ILLUMINA	ss782741154	Sep 08, 2015 (146)
24	ILLUMINA	ss783708114	Sep 08, 2015 (146)
25	ILLUMINA	ss831993083	Sep 08, 2015 (146)
26	ILLUMINA	ss834224435	Sep 08, 2015 (146)
27	EVA-GONL	ss981165259	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1072326040	Aug 21, 2014 (142)
29	1000GENOMES	ss1313605198	Aug 21, 2014 (142)
30	DDI	ss1430216863	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1580976366	Apr 01, 2015 (144)
32	EVA_DECODE	ss1590681168	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1612111405	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1655105438	Apr 01, 2015 (144)
35	ILLUMINA	ss1752553611	Sep 08, 2015 (146)
36	WEILL_CORNELL_DGM	ss1924421562	Feb 12, 2016 (147)
37	JJLAB	ss2022804003	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2150954111	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2270769003	Dec 20, 2016 (150)
40	ILLUMINA	ss2634234167	Nov 08, 2017 (151)
41	AFFY	ss2985941949	Nov 08, 2017 (151)
42	SWEGEN	ss2996316042	Nov 08, 2017 (151)
43	BIOINF_KMB_FNS_UNIBA	ss3025184783	Nov 08, 2017 (151)
44	CSHL	ss3346200820	Nov 08, 2017 (151)
45	ILLUMINA	ss3629159565	Oct 12, 2018 (152)
46	ILLUMINA	ss3632163565	Oct 12, 2018 (152)
47	ILLUMINA	ss3633362299	Oct 12, 2018 (152)
48	ILLUMINA	ss3634082351	Oct 12, 2018 (152)
49	ILLUMINA	ss3634987466	Oct 12, 2018 (152)
50	ILLUMINA	ss3635764653	Oct 12, 2018 (152)
51	ILLUMINA	ss3636696124	Oct 12, 2018 (152)
52	ILLUMINA	ss3637517249	Oct 12, 2018 (152)
53	ILLUMINA	ss3640694759	Oct 12, 2018 (152)
54	ILLUMINA	ss3641172468	Oct 12, 2018 (152)
55	ILLUMINA	ss3641469451	Oct 12, 2018 (152)
56	URBANLAB	ss3647965593	Oct 12, 2018 (152)
57	EGCUT_WGS	ss3664204821	Jul 13, 2019 (153)
58	EVA_DECODE	ss3713954751	Jul 13, 2019 (153)
59	ACPOP	ss3732017726	Jul 13, 2019 (153)
60	ILLUMINA	ss3745287640	Jul 13, 2019 (153)
61	EVA	ss3762967519	Jul 13, 2019 (153)
62	ILLUMINA	ss3772782020	Jul 13, 2019 (153)
63	PACBIO	ss3784999441	Jul 13, 2019 (153)
64	PACBIO	ss3790419870	Jul 13, 2019 (153)
65	PACBIO	ss3795296338	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3806136415	Jul 13, 2019 (153)
67	EVA	ss3829052509	Apr 26, 2020 (154)
68	EVA	ss3837985755	Apr 26, 2020 (154)
69	EVA	ss3843428204	Apr 26, 2020 (154)
70	SGDP_PRJ	ss3861044865	Apr 26, 2020 (154)
71	KRGDB	ss3907482244	Apr 26, 2020 (154)
72	EVA	ss4017188708	Apr 26, 2021 (155)
73	VINODS	ss4024242849	Apr 26, 2021 (155)
74	TOPMED	ss4647165863	Apr 26, 2021 (155)
75	1000G_HIGH_COVERAGE	ss5262612541	Oct 13, 2022 (156)
76	EVA	ss5315024873	Oct 13, 2022 (156)
77	EVA	ss5355166036	Oct 13, 2022 (156)
78	HUGCELL_USP	ss5460984768	Oct 13, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5545531724	Oct 13, 2022 (156)
80	SANFORD_IMAGENETICS	ss5637027832	Oct 13, 2022 (156)
81	EVA	ss5799638503	Oct 13, 2022 (156)
82	YY_MCH	ss5805952281	Oct 13, 2022 (156)
83	EVA	ss5834410792	Oct 13, 2022 (156)
84	EVA	ss5892686751	Oct 13, 2022 (156)
85	EVA	ss5965435220	Oct 13, 2022 (156)
86	1000Genomes	NC_000005.9 - 1430616	Oct 12, 2018 (152)
87	1000Genomes_30x	NC_000005.10 - 1430501	Oct 13, 2022 (156)
88	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 1430616	Oct 12, 2018 (152)
89	Genetic variation in the Estonian population	NC_000005.9 - 1430616	Oct 12, 2018 (152)
90	The Danish reference pan genome	NC_000005.9 - 1430616	Apr 26, 2020 (154)
91	gnomAD - Genomes	NC_000005.10 - 1430501	Apr 26, 2021 (155)
92	Genome of the Netherlands Release 5	NC_000005.9 - 1430616	Apr 26, 2020 (154)
93	HapMap	NC_000005.10 - 1430501	Apr 26, 2020 (154)
94	KOREAN population from KRGDB	NC_000005.9 - 1430616	Apr 26, 2020 (154)
95	Northern Sweden	NC_000005.9 - 1430616	Jul 13, 2019 (153)
96	Qatari	NC_000005.9 - 1430616	Apr 26, 2020 (154)
97	SGDP_PRJ	NC_000005.9 - 1430616	Apr 26, 2020 (154)
98	Siberian	NC_000005.9 - 1430616	Apr 26, 2020 (154)
99	TopMed	NC_000005.10 - 1430501	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000005.9 - 1430616	Oct 12, 2018 (152)
101	ALFA	NC_000005.10 - 1430501	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)
rs17585786	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss108734060, ss165998384, ss253150072, ss285103021, ss293340790, ss479579968, ss1590681168	NC_000005.8:1483615:C:T	NC_000005.10:1430500:C:T	(self)
25149675, 13987110, 9943069, 7141305, 6208709, 14659638, 5302591, 6463492, 13061845, 3470465, 13987110, ss232792699, ss479584285, ss480062612, ss484588737, ss536718245, ss651991216, ss778764647, ss782741154, ss783708114, ss831993083, ss834224435, ss981165259, ss1072326040, ss1313605198, ss1430216863, ss1580976366, ss1612111405, ss1655105438, ss1752553611, ss1924421562, ss2022804003, ss2150954111, ss2634234167, ss2985941949, ss2996316042, ss3346200820, ss3629159565, ss3632163565, ss3633362299, ss3634082351, ss3634987466, ss3635764653, ss3636696124, ss3637517249, ss3640694759, ss3641172468, ss3641469451, ss3664204821, ss3732017726, ss3745287640, ss3762967519, ss3772782020, ss3784999441, ss3790419870, ss3795296338, ss3829052509, ss3837985755, ss3861044865, ss3907482244, ss4017188708, ss5315024873, ss5355166036, ss5637027832, ss5799638503, ss5834410792, ss5965435220	NC_000005.9:1430615:C:T	NC_000005.10:1430500:C:T	(self)
33057659, 177864591, 2790145, 484543420, 8118172315, ss2270769003, ss3025184783, ss3647965593, ss3713954751, ss3806136415, ss3843428204, ss4647165863, ss5262612541, ss5460984768, ss5545531724, ss5805952281, ss5892686751	NC_000005.10:1430500:C:T	NC_000005.10:1430500:C:T	(self)
ss24364025, ss35033727, ss44617340, ss68923840, ss98689082, ss144116417, ss159999207	NT_006576.16:1420615:C:T	NC_000005.10:1430500:C:T	(self)
ss17047630, ss22217984	NT_023089.13:1413353:C:T	NC_000005.10:1430500:C:T	(self)
ss4024242849	NT_187547.1:79271:G:A	NC_000005.10:1430500:C:T	(self)

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

2 citations for rs11737901

PMID	Title	Author	Year	Journal
18821566	SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families.	Kollins SH et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
25545355	Genetic variants and early cigarette smoking and nicotine dependence phenotypes in adolescents.	O'Loughlin J et al.	2014	PloS one

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11737901