Name: rs140701
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.

rs140701

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:30211514 (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=0.419506 (111039/264690, TOPMED)
T=0.434083 (66373/152904, ALFA)
T=0.403466 (56486/140002, GnomAD) (+ 22 more)
C=0.18469 (5219/28258, 14KJPN)
C=0.18132 (3039/16760, 8.3KJPN)
T=0.4897 (3136/6404, 1000G_30x)
T=0.4982 (2495/5008, 1000G)
T=0.4076 (1826/4480, Estonian)
T=0.4227 (1629/3854, ALSPAC)
T=0.4070 (1509/3708, TWINSUK)
C=0.2048 (600/2930, KOREAN)
C=0.4931 (925/1876, HapMap)
C=0.2020 (370/1832, Korea1K)
C=0.4955 (547/1104, Daghestan)
T=0.407 (406/998, GoNL)
C=0.199 (157/790, PRJEB37584)
C=0.500 (313/626, Chileans)
T=0.500 (313/626, Chileans)
T=0.472 (283/600, NorthernSweden)
T=0.395 (211/534, MGP)
C=0.281 (114/406, SGDP_PRJ)
T=0.431 (93/216, Qatari)
C=0.231 (50/216, Vietnamese)
C=0.36 (15/42, Siberian)
T=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SLC6A4 : Intron Variant
Publications: 27 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	152904	C=0.565917	T=0.434083
European	Sub	128456	C=0.569004	T=0.430996
African	Sub	7368	C=0.6946	T=0.3054
African Others	Sub	254	C=0.748	T=0.252
African American	Sub	7114	C=0.6927	T=0.3073
Asian	Sub	678	C=0.217	T=0.783
East Asian	Sub	514	C=0.218	T=0.782
Other Asian	Sub	164	C=0.213	T=0.787
Latin American 1	Sub	896	C=0.592	T=0.408
Latin American 2	Sub	8424	C=0.4526	T=0.5474
South Asian	Sub	196	C=0.526	T=0.474
Other	Sub	6886	C=0.5414	T=0.4586

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
TopMed	Global	Study-wide	264690	C=0.580494	T=0.419506
Allele Frequency Aggregator	Total	Global	152904	C=0.565917	T=0.434083
Allele Frequency Aggregator	European	Sub	128456	C=0.569004	T=0.430996
Allele Frequency Aggregator	Latin American 2	Sub	8424	C=0.4526	T=0.5474
Allele Frequency Aggregator	African	Sub	7368	C=0.6946	T=0.3054
Allele Frequency Aggregator	Other	Sub	6886	C=0.5414	T=0.4586
Allele Frequency Aggregator	Latin American 1	Sub	896	C=0.592	T=0.408
Allele Frequency Aggregator	Asian	Sub	678	C=0.217	T=0.783
Allele Frequency Aggregator	South Asian	Sub	196	C=0.526	T=0.474
gnomAD - Genomes	Global	Study-wide	140002	C=0.596534	T=0.403466
gnomAD - Genomes	European	Sub	75836	C=0.58611	T=0.41389
gnomAD - Genomes	African	Sub	41932	C=0.69100	T=0.30900
gnomAD - Genomes	American	Sub	13640	C=0.49758	T=0.50242
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4576	T=0.5424
gnomAD - Genomes	East Asian	Sub	3122	C=0.1867	T=0.8133
gnomAD - Genomes	Other	Sub	2150	C=0.5595	T=0.4405
14KJPN	JAPANESE	Study-wide	28258	C=0.18469	T=0.81531
8.3KJPN	JAPANESE	Study-wide	16760	C=0.18132	T=0.81868
1000Genomes_30x	Global	Study-wide	6404	C=0.5103	T=0.4897
1000Genomes_30x	African	Sub	1786	C=0.6988	T=0.3012
1000Genomes_30x	Europe	Sub	1266	C=0.6051	T=0.3949
1000Genomes_30x	South Asian	Sub	1202	C=0.4842	T=0.5158
1000Genomes_30x	East Asian	Sub	1170	C=0.1838	T=0.8162
1000Genomes_30x	American	Sub	980	C=0.466	T=0.534
1000Genomes	Global	Study-wide	5008	C=0.5018	T=0.4982
1000Genomes	African	Sub	1322	C=0.7042	T=0.2958
1000Genomes	East Asian	Sub	1008	C=0.1815	T=0.8185
1000Genomes	Europe	Sub	1006	C=0.5905	T=0.4095
1000Genomes	South Asian	Sub	978	C=0.490	T=0.510
1000Genomes	American	Sub	694	C=0.470	T=0.530
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5924	T=0.4076
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5773	T=0.4227
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5930	T=0.4070
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2048	T=0.7952
HapMap	Global	Study-wide	1876	C=0.4931	T=0.5069
HapMap	American	Sub	768	C=0.465	T=0.535
HapMap	African	Sub	678	C=0.647	T=0.353
HapMap	Asian	Sub	254	C=0.169	T=0.831
HapMap	Europe	Sub	176	C=0.489	T=0.511
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2020	T=0.7980
Genome-wide autozygosity in Daghestan	Global	Study-wide	1104	C=0.4955	T=0.5045
Genome-wide autozygosity in Daghestan	Daghestan	Sub	614	C=0.487	T=0.513
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.542	T=0.458
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	C=0.415	T=0.585
Genome-wide autozygosity in Daghestan	Europe	Sub	102	C=0.588	T=0.412
Genome-wide autozygosity in Daghestan	South Asian	Sub	92	C=0.51	T=0.49
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	C=0.41	T=0.59
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.593	T=0.407
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.199	T=0.801
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.199	T=0.801
Chileans	Chilean	Study-wide	626	C=0.500	T=0.500
Northern Sweden	ACPOP	Study-wide	600	C=0.528	T=0.472
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.605	T=0.395
SGDP_PRJ	Global	Study-wide	406	C=0.281	T=0.719
Qatari	Global	Study-wide	216	C=0.569	T=0.431
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.231	T=0.769
Siberian	Global	Study-wide	42	C=0.36	T=0.64
The Danish reference pan genome	Danish	Study-wide	40	C=0.62	T=0.38

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 17	NC_000017.11:g.30211514C>T
GRCh37.p13 chr 17	NC_000017.10:g.28538532C>T
SLC6A4 RefSeqGene	NG_011747.2:g.29423G>A

Gene: SLC6A4, solute carrier family 6 member 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC6A4 transcript	NM_001045.6:c.1205-90G>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 17	NC_000017.11:g.30211514=	NC_000017.11:g.30211514C>T
GRCh37.p13 chr 17	NC_000017.10:g.28538532=	NC_000017.10:g.28538532C>T
SLC6A4 RefSeqGene	NG_011747.2:g.29423=	NG_011747.2:g.29423G>A
SLC6A4 transcript	NM_001045.5:c.1205-90=	NM_001045.5:c.1205-90G>A
SLC6A4 transcript	NM_001045.6:c.1205-90=	NM_001045.6:c.1205-90G>A
SLC6A4 transcript variant X1	XM_005258025.1:c.1331-90=	XM_005258025.1:c.1331-90G>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#.

134 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	LDN	ss149200	Jun 24, 2000 (78)
2	SC_JCM	ss6035893	Feb 20, 2003 (111)
3	SC_SNP	ss14757561	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss19362848	Feb 27, 2004 (120)
5	IMCJ-GDT	ss22888013	Apr 05, 2004 (121)
6	PERLEGEN	ss23793931	Sep 20, 2004 (123)
7	CME_KULEUVEN	ss37043616	May 25, 2005 (126)
8	ABI	ss44023687	Mar 11, 2006 (126)
9	ILLUMINA	ss65715394	Oct 16, 2006 (127)
10	AFFY	ss66205935	Dec 01, 2006 (127)
11	ILLUMINA	ss74867966	Dec 07, 2007 (129)
12	AFFY	ss76298841	Dec 07, 2007 (129)
13	EGP_SNPS	ss76882901	Dec 07, 2007 (129)
14	SI_EXO	ss76888309	Dec 07, 2007 (129)
15	HGSV	ss80118824	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss81406732	Dec 15, 2007 (130)
17	HGSV	ss83636555	Dec 15, 2007 (130)
18	HGSV	ss85542658	Dec 15, 2007 (130)
19	BCMHGSC_JDW	ss90566924	Mar 24, 2008 (129)
20	BGI	ss106503210	Feb 06, 2009 (130)
21	1000GENOMES	ss109713165	Jan 24, 2009 (130)
22	1000GENOMES	ss113433027	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss118031474	Feb 14, 2009 (130)
24	ENSEMBL	ss137036583	Dec 01, 2009 (131)
25	GMI	ss157961638	Dec 01, 2009 (131)
26	ILLUMINA	ss160348744	Dec 01, 2009 (131)
27	ENSEMBL	ss161827192	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss168003933	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169386629	Jul 04, 2010 (132)
30	ILLUMINA	ss172478349	Jul 04, 2010 (132)
31	AFFY	ss173173575	Jul 04, 2010 (132)
32	BUSHMAN	ss202370852	Jul 04, 2010 (132)
33	BCM-HGSC-SUB	ss207794206	Jul 04, 2010 (132)
34	1000GENOMES	ss227511238	Jul 14, 2010 (132)
35	1000GENOMES	ss237217478	Jul 15, 2010 (132)
36	1000GENOMES	ss243521701	Jul 15, 2010 (132)
37	ILLUMINA	ss244279360	Jul 04, 2010 (132)
38	GMI	ss282738710	May 04, 2012 (137)
39	PJP	ss292036332	May 09, 2011 (134)
40	ILLUMINA	ss479960523	May 04, 2012 (137)
41	ILLUMINA	ss479968980	May 04, 2012 (137)
42	ILLUMINA	ss480612809	Sep 08, 2015 (146)
43	ILLUMINA	ss484778506	May 04, 2012 (137)
44	ILLUMINA	ss536866269	Sep 08, 2015 (146)
45	TISHKOFF	ss565225795	Apr 25, 2013 (138)
46	SSMP	ss661025155	Apr 25, 2013 (138)
47	ILLUMINA	ss778805232	Aug 21, 2014 (142)
48	ILLUMINA	ss782835929	Aug 21, 2014 (142)
49	ILLUMINA	ss783800657	Aug 21, 2014 (142)
50	ILLUMINA	ss832089526	Apr 01, 2015 (144)
51	ILLUMINA	ss834265439	Aug 21, 2014 (142)
52	EVA-GONL	ss993025847	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1081003548	Aug 21, 2014 (142)
54	1000GENOMES	ss1358325182	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397728652	Sep 08, 2015 (146)
56	DDI	ss1428013018	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1578126998	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1635487582	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1678481615	Apr 01, 2015 (144)
60	EVA_DECODE	ss1697067074	Apr 01, 2015 (144)
61	EVA_MGP	ss1711455443	Apr 01, 2015 (144)
62	EVA_SVP	ss1713576796	Apr 01, 2015 (144)
63	ILLUMINA	ss1752220103	Sep 08, 2015 (146)
64	HAMMER_LAB	ss1808748258	Sep 08, 2015 (146)
65	WEILL_CORNELL_DGM	ss1936483230	Feb 12, 2016 (147)
66	GENOMED	ss1968374774	Jul 19, 2016 (147)
67	JJLAB	ss2029022351	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2157486274	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2216217197	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2629006954	Nov 08, 2017 (151)
71	ILLUMINA	ss2633387077	Nov 08, 2017 (151)
72	ILLUMINA	ss2633387078	Nov 08, 2017 (151)
73	GRF	ss2702045825	Nov 08, 2017 (151)
74	GNOMAD	ss2948898832	Nov 08, 2017 (151)
75	AFFY	ss2985728156	Nov 08, 2017 (151)
76	SWEGEN	ss3015396433	Nov 08, 2017 (151)
77	BIOINF_KMB_FNS_UNIBA	ss3028331616	Nov 08, 2017 (151)
78	CSHL	ss3351709715	Nov 08, 2017 (151)
79	ILLUMINA	ss3627649565	Oct 12, 2018 (152)
80	ILLUMINA	ss3631368833	Oct 12, 2018 (152)
81	ILLUMINA	ss3633138810	Oct 12, 2018 (152)
82	ILLUMINA	ss3633846150	Oct 12, 2018 (152)
83	ILLUMINA	ss3634670360	Oct 12, 2018 (152)
84	ILLUMINA	ss3635533991	Oct 12, 2018 (152)
85	ILLUMINA	ss3636360356	Oct 12, 2018 (152)
86	ILLUMINA	ss3637285509	Oct 12, 2018 (152)
87	ILLUMINA	ss3638155804	Oct 12, 2018 (152)
88	ILLUMINA	ss3640377675	Oct 12, 2018 (152)
89	ILLUMINA	ss3641079248	Oct 12, 2018 (152)
90	ILLUMINA	ss3641374720	Oct 12, 2018 (152)
91	ILLUMINA	ss3643134732	Oct 12, 2018 (152)
92	OMUKHERJEE_ADBS	ss3646508365	Oct 12, 2018 (152)
93	EGCUT_WGS	ss3682301244	Jul 13, 2019 (153)
94	ACPOP	ss3741958423	Jul 13, 2019 (153)
95	ILLUMINA	ss3744970674	Jul 13, 2019 (153)
96	EVA	ss3754571801	Jul 13, 2019 (153)
97	ILLUMINA	ss3772468607	Jul 13, 2019 (153)
98	PACBIO	ss3788180855	Jul 13, 2019 (153)
99	PACBIO	ss3793143042	Jul 13, 2019 (153)
100	PACBIO	ss3798028959	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3819848513	Jul 13, 2019 (153)
102	EVA	ss3825896214	Apr 27, 2020 (154)
103	EVA	ss3834828162	Apr 27, 2020 (154)
104	EVA	ss3841024106	Apr 27, 2020 (154)
105	EVA	ss3846520959	Apr 27, 2020 (154)
106	SGDP_PRJ	ss3885573738	Apr 27, 2020 (154)
107	KRGDB	ss3935226873	Apr 27, 2020 (154)
108	KOGIC	ss3978706811	Apr 27, 2020 (154)
109	FSA-LAB	ss3984112068	Apr 26, 2021 (155)
110	EVA	ss3984721772	Apr 26, 2021 (155)
111	EVA	ss3986720709	Apr 26, 2021 (155)
112	EVA	ss4017762204	Apr 26, 2021 (155)
113	TOPMED	ss5033113284	Apr 26, 2021 (155)
114	TOMMO_GENOMICS	ss5222015975	Apr 26, 2021 (155)
115	EVA	ss5237238538	Apr 26, 2021 (155)
116	1000G_HIGH_COVERAGE	ss5302836049	Oct 16, 2022 (156)
117	EVA	ss5315880973	Oct 16, 2022 (156)
118	EVA	ss5427068108	Oct 16, 2022 (156)
119	HUGCELL_USP	ss5495934083	Oct 16, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5606414699	Oct 16, 2022 (156)
121	EVA	ss5624071029	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5659938462	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5778097338	Oct 16, 2022 (156)
124	EVA	ss5799973338	Oct 16, 2022 (156)
125	EVA	ss5800070828	Oct 16, 2022 (156)
126	EVA	ss5800207534	Oct 16, 2022 (156)
127	YY_MCH	ss5816474808	Oct 16, 2022 (156)
128	EVA	ss5833871259	Oct 16, 2022 (156)
129	EVA	ss5848445462	Oct 16, 2022 (156)
130	EVA	ss5851778510	Oct 16, 2022 (156)
131	EVA	ss5913637627	Oct 16, 2022 (156)
132	EVA	ss5951335482	Oct 16, 2022 (156)
133	EVA	ss5980960570	Oct 16, 2022 (156)
134	EVA	ss5981300553	Oct 16, 2022 (156)
135	1000Genomes	NC_000017.10 - 28538532	Oct 12, 2018 (152)
136	1000Genomes_30x	NC_000017.11 - 30211514	Oct 16, 2022 (156)
137	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 28538532	Oct 12, 2018 (152)
138	Chileans	NC_000017.10 - 28538532	Apr 27, 2020 (154)
139	Genome-wide autozygosity in Daghestan	NC_000017.9 - 25562658	Apr 27, 2020 (154)
140	Genetic variation in the Estonian population	NC_000017.10 - 28538532	Oct 12, 2018 (152)
141	The Danish reference pan genome	NC_000017.10 - 28538532	Apr 27, 2020 (154)
142	gnomAD - Genomes	NC_000017.11 - 30211514	Apr 26, 2021 (155)
143	Genome of the Netherlands Release 5	NC_000017.10 - 28538532	Apr 27, 2020 (154)
144	HapMap	NC_000017.11 - 30211514	Apr 27, 2020 (154)
145	KOREAN population from KRGDB	NC_000017.10 - 28538532	Apr 27, 2020 (154)
146	Korean Genome Project	NC_000017.11 - 30211514	Apr 27, 2020 (154)
147	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 28538532	Apr 27, 2020 (154)
148	Northern Sweden	NC_000017.10 - 28538532	Jul 13, 2019 (153)
149	CNV burdens in cranial meningiomas	NC_000017.10 - 28538532	Apr 26, 2021 (155)
150	Qatari	NC_000017.10 - 28538532	Apr 27, 2020 (154)
151	SGDP_PRJ	NC_000017.10 - 28538532	Apr 27, 2020 (154)
152	Siberian	NC_000017.10 - 28538532	Apr 27, 2020 (154)
153	8.3KJPN	NC_000017.10 - 28538532	Apr 26, 2021 (155)
154	14KJPN	NC_000017.11 - 30211514	Oct 16, 2022 (156)
155	TopMed	NC_000017.11 - 30211514	Apr 26, 2021 (155)
156	UK 10K study - Twins	NC_000017.10 - 28538532	Oct 12, 2018 (152)
157	A Vietnamese Genetic Variation Database	NC_000017.10 - 28538532	Jul 13, 2019 (153)
158	ALFA	NC_000017.11 - 30211514	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)
rs29001484	Mar 11, 2006 (126)
rs60541743	May 26, 2008 (130)
rs61006285	Feb 27, 2009 (130)
rs386530830	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
198551, ss66205935, ss76298841, ss80118824, ss83636555, ss85542658, ss90566924, ss109713165, ss113433027, ss118031474, ss168003933, ss169386629, ss173173575, ss202370852, ss207794206, ss282738710, ss292036332, ss479960523, ss1397728652, ss1697067074, ss1713576796, ss3643134732	NC_000017.9:25562657:C:T	NC_000017.11:30211513:C:T	(self)
71554856, 39665526, 179677, 28039492, 4330483, 17681829, 42404267, 571203, 15243288, 271316, 18525152, 37590718, 10002628, 79985282, 39665526, 8782593, ss227511238, ss237217478, ss243521701, ss479968980, ss480612809, ss484778506, ss536866269, ss565225795, ss661025155, ss778805232, ss782835929, ss783800657, ss832089526, ss834265439, ss993025847, ss1081003548, ss1358325182, ss1428013018, ss1578126998, ss1635487582, ss1678481615, ss1711455443, ss1752220103, ss1808748258, ss1936483230, ss1968374774, ss2029022351, ss2157486274, ss2629006954, ss2633387077, ss2633387078, ss2702045825, ss2948898832, ss2985728156, ss3015396433, ss3351709715, ss3627649565, ss3631368833, ss3633138810, ss3633846150, ss3634670360, ss3635533991, ss3636360356, ss3637285509, ss3638155804, ss3640377675, ss3641079248, ss3641374720, ss3646508365, ss3682301244, ss3741958423, ss3744970674, ss3754571801, ss3772468607, ss3788180855, ss3793143042, ss3798028959, ss3825896214, ss3834828162, ss3841024106, ss3885573738, ss3935226873, ss3984112068, ss3984721772, ss3986720709, ss4017762204, ss5222015975, ss5315880973, ss5427068108, ss5624071029, ss5659938462, ss5799973338, ss5800070828, ss5800207534, ss5833871259, ss5848445462, ss5951335482, ss5980960570, ss5981300553	NC_000017.10:28538531:C:T	NC_000017.11:30211513:C:T	(self)
93940634, 504796438, 1474654, 35084812, 111934442, 248658946, 1625360672, ss2216217197, ss3028331616, ss3819848513, ss3846520959, ss3978706811, ss5033113284, ss5237238538, ss5302836049, ss5495934083, ss5606414699, ss5778097338, ss5816474808, ss5851778510, ss5913637627	NC_000017.11:30211513:C:T	NC_000017.11:30211513:C:T	(self)
ss14757561, ss19362848, ss76888309	NT_010799.14:3275524:C:T	NC_000017.11:30211513:C:T	(self)
ss149200, ss6035893, ss22888013, ss23793931, ss37043616, ss44023687, ss65715394, ss74867966, ss76882901, ss81406732, ss106503210, ss137036583, ss157961638, ss160348744, ss161827192, ss172478349, ss244279360	NT_010799.15:3275525:C:T	NC_000017.11:30211513:C:T	(self)

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

27 citations for rs140701

PMID	Title	Author	Year	Journal
15361494	Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women.	Yeo A et al.	2004	Gut
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
17629953	Loudness dependence of auditory evoked potentials is not associated with polymorphisms or haplotypes in the serotonin transporter gene in a community-based sample of German healthy volunteers.	Juckel G et al.	2007	Psychiatry research
18663369	Panic disorder is associated with the serotonin transporter gene (SLC6A4) but not the promoter region (5-HTTLPR).	Strug LJ et al.	2010	Molecular psychiatry
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
19141529	Serotonin transporter polymorphisms in patients with portopulmonary hypertension.	Roberts KE et al.	2009	Chest
19184136	Examination of association of genes in the serotonin system to autism.	Anderson BM et al.	2009	Neurogenetics
19351213	Development and validation of a high-throughput screening method for two polymorphisms in the serotonin transporter gene.	Eidens M et al.	2009	Molecular diagnosis & therapy
19541292	Accurate, Large-Scale Genotyping of 5HTTLPR and Flanking Single Nucleotide Polymorphisms in an Association Study of Depression, Anxiety, and Personality Measures.	Wray NR et al.	2009	Biological psychiatry
19772600	A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.	Huang LC et al.	2009	Journal of translational medicine
19844206	Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.	Dong C et al.	2009	Molecular psychiatry
20031642	Serotonin transporter gene, depressive symptoms, and interleukin-6.	Su S et al.	2009	Circulation. Cardiovascular genetics
20039948	A genetic study of ADHD and activity level in infancy.	Ilott N et al.	2010	Genes, brain, and behavior
20180013	Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women.	Sangrajrang S et al.	2010	Breast cancer research and treatment
20502016	Polymorphism C in the serotonin transporter gene in depression-free elderly patients with vascular dementia.	Seripa D et al.	2010	Dementia and geriatric cognitive disorders
21122117	Genetic influences on attention deficit hyperactivity disorder symptoms from age 2 to 3: a quantitative and molecular genetic investigation.	Ilott NE et al.	2010	BMC psychiatry
21545724	Serotonin transporter gene polymorphisms and brain function during emotional distraction from cognitive processing in posttraumatic stress disorder.	Morey RA et al.	2011	BMC psychiatry
21906503	Different phenotypic and genotypic presentations in alcohol dependence: age at onset matters.	Chen YC et al.	2011	Journal of studies on alcohol and drugs
22155606	Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.	Laycock-van Spyk S et al.	2011	Human genomics
22384070	AVPR1A and SLC6A4 polymorphisms in choral singers and non-musicians: a gene association study.	Morley AP et al.	2012	PloS one
22727904	Sex determines which section of the SLC6A4 gene is linked to obsessive-compulsive symptoms in normal Chinese college students.	Lei X et al.	2012	Journal of psychiatric research
25827644	Role of the serotonin transporter gene locus in the response to SSRI treatment of major depressive disorder in late life.	Seripa D et al.	2015	Journal of psychopharmacology (Oxford, England)
26408209	Common variants of HTR1A and SLC6A4 confer the increasing risk of Schizophrenia susceptibility: A population-based association and epistasis analysis.	Lin H et al.	2015	American journal of medical genetics. Part B, Neuropsychiatric genetics
26674707	Polymorphism of rs3813034 in Serotonin Transporter Gene SLC6A4 Is Associated With the Selective Serotonin and Serotonin-Norepinephrine Reuptake Inhibitor Response in Depressive Disorder: Sequencing Analysis of SLC6A4.	Nonen S et al.	2016	Journal of clinical psychopharmacology
28272115	Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety.	Forstner AJ et al.	2017	Psychiatric genetics
31129315	Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain.	Chidambaran V et al.	2020	The journal of pain
32723321	The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder.	Zou Z et al.	2020	BMC psychiatry

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

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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

rs140701