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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases 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.

rs25531

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr17:30237328 (GRCh38.p12) 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
C=0.12177 (15290/125568, TOPMED)
C=0.138 (689/5008, 1000G)
C=0.07 (36/514, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC6A4 : 2KB Upstream Variant
LOC105371720 : Intron Variant
Publications
233 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 17 NC_000017.11:g.30237328T>C
GRCh37.p13 chr 17 NC_000017.10:g.28564346T>C
SLC6A4 RefSeqGene NG_011747.2:g.3609A>G
LOC110806262 genomic region NG_055470.1:g.1948T>C
Gene: SLC6A4, solute carrier family 6 member 4 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SLC6A4 transcript NM_001045.6:c. N/A Upstream Transcript Variant
Gene: LOC105371720, uncharacterized LOC105371720 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105371720 transcript variant X1 XR_001752824.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

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 125568 T=0.87823 C=0.12177
1000Genomes Global Study-wide 5008 T=0.862 C=0.138
1000Genomes African Sub 1322 T=0.780 C=0.220
1000Genomes East Asian Sub 1008 T=0.868 C=0.132
1000Genomes Europe Sub 1006 T=0.911 C=0.089
1000Genomes South Asian Sub 978 T=0.86 C=0.14
1000Genomes American Sub 694 T=0.95 C=0.05
Northern Sweden ACPOP Study-wide 514 T=0.93 C=0.07
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C Note
GRCh38.p12 chr 17 NC_000017.11:g.30237328= NC_000017.11:g.30237328T>C
GRCh37.p13 chr 17 NC_000017.10:g.28564346= NC_000017.10:g.28564346T>C
SLC6A4 RefSeqGene NG_011747.2:g.3609= NG_011747.2:g.3609A>G
LOC110806262 genomic region NG_055470.1:g.1948= NG_055470.1:g.1948T>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

18 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 LDN ss28250 Feb 29, 2000 (72)
2 LDN ss2924049 Apr 12, 2001 (123)
3 HAMILTONSNPS ss38346905 Mar 15, 2006 (126)
4 ENSEMBL ss132590359 Dec 01, 2009 (131)
5 1000GENOMES ss464872522 Sep 17, 2011 (135)
6 EVA-GONL ss993026003 Aug 21, 2014 (142)
7 JMKIDD_LAB ss1081003656 Aug 21, 2014 (142)
8 1000GENOMES ss1358325909 Aug 21, 2014 (142)
9 EVA_GENOME_DK ss1578127041 Apr 01, 2015 (144)
10 WEILL_CORNELL_DGM ss1936483418 Feb 12, 2016 (147)
11 USC_VALOUEV ss2157486359 Dec 20, 2016 (150)
12 GNOMAD ss2948900742 Nov 08, 2017 (151)
13 AFFY ss2985728227 Nov 08, 2017 (151)
14 TOPMED ss3260590338 Nov 08, 2017 (151)
15 URBANLAB ss3650635754 Oct 12, 2018 (152)
16 ACPOP ss3741958568 Jul 13, 2019 (153)
17 EVA ss3754571980 Jul 13, 2019 (153)
18 KHV_HUMAN_GENOMES ss3819848694 Jul 13, 2019 (153)
19 1000Genomes NC_000017.10 - 28564346 Oct 12, 2018 (152)
20 Northern Sweden NC_000017.10 - 28564346 Jul 13, 2019 (153)
21 TopMed NC_000017.11 - 30237328 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs2020931 Oct 08, 2004 (123)
rs35593448 May 23, 2006 (127)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
71555596, 15243433, ss464872522, ss993026003, ss1081003656, ss1358325909, ss1578127041, ss1936483418, ss2157486359, ss2948900742, ss2985728227, ss3741958568, ss3754571980 NC_000017.10:28564345:T:C NC_000017.11:30237327:T:C (self)
155177977, ss3260590338, ss3650635754, ss3819848694 NC_000017.11:30237327:T:C NC_000017.11:30237327:T:C (self)
ss28250, ss2924049, ss38346905, ss132590359 NT_010799.15:3301339:T:C NC_000017.11:30237327:T:C (self)
Help

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

233 citations for rs25531
PMID Title Author Year Journal
15993855 Sequence analysis of the serotonin transporter and associations with antidepressant response. Kraft JB et al. 2005 Biological psychiatry
16402131 Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531. Wendland JR et al. 2006 Molecular psychiatry
17284168 Serotonergic genes modulate amygdala activity in major depression. Dannlowski U et al. 2007 Genes, brain, and behavior
17375136 A large case-control study of common functional SLC6A4 and BDNF variants in obsessive-compulsive disorder. Wendland JR et al. 2007 Neuropsychopharmacology
18050262 Serotonin transporter polymorphism (5-HTTLPR) association with melancholic depression: a female specific effect? Baune BT et al. 2008 Depression and anxiety
18441666 Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depression. Ramasubbu R et al. 2008 Canadian journal of psychiatry. Revue canadienne de psychiatrie
18444253 Additional functional variation at the SLC6A4 gene. Lipsky RH et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
18465388 The serotonin transporter polymorphisms and major depression following traumatic brain injury. Chan F et al. 2008 Brain injury
18618621 SLC6A4 variation and citalopram response. Mrazek DA et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
18629430 Blushing propensity in social anxiety disorder: influence of serotonin transporter gene variation. Domschke K et al. 2009 Journal of neural transmission (Vienna, Austria
18661222 5-HTTLPR and gender moderate changes in negative affect responses to tryptophan infusion. Brummett BH et al. 2008 Behavior genetics
18824000 How the serotonin story is being rewritten by new gene-based discoveries principally related to SLC6A4, the serotonin transporter gene, which functions to influence all cellular serotonin systems. Murphy DL et al. 2008 Neuropharmacology
18951433 Lack of association of the serotonin transporter gene promoter region polymorphism, 5-HTTLPR, including rs25531 with cigarette smoking and alcohol consumption. Rasmussen H et al. 2009 American journal of medical genetics. Part B, Neuropsychiatric genetics
18981341 Association of serotonin transporter gene polymorphisms with poststroke depression. Kohen R et al. 2008 Archives of general psychiatry
19015103 Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. Bakermans-Kranenburg MJ et al. 2008 Social cognitive and affective neuroscience
19020798 Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy. Albani D et al. 2008 Journal of human genetics
19032574 Characterization of a functional polymorphism in the 3' UTR of SLC6A4 and its association with drinking intensity. Seneviratne C et al. 2009 Alcoholism, clinical and experimental research
19103261 Novel allelic variants in the human serotonin transporter gene linked polymorphism (5-HTTLPR) among depressed patients with suicide attempt. Segal J et al. 2009 Neuroscience letters
19122845 An examination of the association between the 5-HTT promoter region polymorphism and depressogenic attributional styles in childhood. Sheikh HI et al. 2008 Personality and individual differences
19125330 The serotonin transporter polymorphism rs25531 is associated with irritable bowel syndrome. Kohen R et al. 2009 Digestive diseases and sciences
19249159 Sex-specific association between the 5-HTT gene-linked polymorphic region and basal cortisol secretion. Wüst S et al. 2009 Psychoneuroendocrinology
19272758 Serotonin transporter promoter region polymorphisms do not influence treatment response to escitalopram in patients with major depression. Maron E et al. 2009 European neuropsychopharmacology
19429111 No association between polymorphism of serotonin transporter gene and depression in Parkinson's disease in Chinese. Zhang JL et al. 2009 Neuroscience letters
19487392 Serotonin transporter gene (SLC6A4) promoter polymorphisms and the susceptibility to posttraumatic stress disorder in the general population. Grabe HJ et al. 2009 The American journal of psychiatry
19521089 Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. Albani D et al. 2009 European neurology
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
19570226 Genetic variation in the serotonin transporter gene (5-HTTLPR, rs25531) influences the analgesic response to the short acting opioid Remifentanil in humans. Kosek E et al. 2009 Molecular pain
19588468 Association and gene-gene interaction of SLC6A4 and ITGB3 in autism. Ma DQ et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
19625753 The serotonin transporter promoter polymorphic region is not a risk factor for Alzheimer's disease related behavioral disturbances. Albani D et al. 2009 Journal of Alzheimer's disease
19655247 Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics. Camilleri M et al. 2009 Digestive diseases and sciences
19685963 Association of the serotonin transporter gene promoter region (5-HTTLPR) polymorphism with biased attention for emotional stimuli. Beevers CG et al. 2009 Journal of abnormal psychology
19742166 Epistasis between IL1A, IL1B, TNF, HTR2A, 5-HTTLPR and TPH2 variations does not impact alcohol dependence disorder features. Drago A et al. 2009 International journal of environmental research and public health
19806148 Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study. Voyiaziakis E et al. 2011 Molecular psychiatry
19860858 Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF. Ali FR et al. 2010 Journal of neurochemistry
19884608 Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations. Xie P et al. 2009 Archives of general psychiatry
19911410 Do 5HTTLPR and stress interact in risk for depression and suicidality? Item response analyses of a large sample. Coventry WL et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
19944766 A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. Meda SA et al. 2010 NeuroImage
19962442 Emotion specific modulation of automatic amygdala responses by 5-HTTLPR genotype. Dannlowski U et al. 2010 NeuroImage
19969287 Association of a polyadenylation polymorphism in the serotonin transporter and panic disorder. Gyawali S et al. 2010 Biological psychiatry
19996755 Serotonin transporter triallelic genotype and response to citalopram and risperidone in dementia with behavioral symptoms. Dombrovski AY et al. 2010 International clinical psychopharmacology
20029939 Polymorphisms in CRHR1 and the serotonin transporter loci: gene x gene x environment interactions on depressive symptoms. Ressler KJ et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
20031235 Serotonin transporter polymorphisms and early response to antipsychotic treatment in first episode of psychosis. Vázquez-Bourgon J et al. 2010 Psychiatry research
20090673 Serotonin transporter genotype and action monitoring dysfunction: a possible substrate underlying increased vulnerability to depression. Holmes AJ et al. 2010 Neuropsychopharmacology
20146650 Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder. Tadić A et al. 2010 The world journal of biological psychiatry
20175892 Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency. Tabagh R et al. 2010 BMC medical genetics
20373668 Psychiatric pharmacogenomic testing in clinical practice. Mrazek DA et al. 2010 Dialogues in clinical neuroscience
20406689 Serotonin transporter polymorphisms (SLC6A4 insertion/deletion and rs25531) do not affect the availability of 5-HTT to [11C] DASB binding in the living human brain. Murthy NV et al. 2010 NeuroImage
20450949 Serotonin transporter gene polymorphisms and treatment-resistant depression. Bonvicini C et al. 2010 Progress in neuro-psychopharmacology & biological psychiatry
20452607 Influence of serotonin transporter gene polymorphisms on clozapine response in Brazilian schizophrenics. Kohlrausch FB et al. 2010 Journal of psychiatric research
20452754 Mixture regression analysis on age at onset in bipolar disorder patients: investigation of the role of serotonergic genes. Manchia M et al. 2010 European neuropsychopharmacology
20455953 Serotonin transporter gene, childhood emotional abuse and cognitive vulnerability to depression. Antypa N et al. 2010 Genes, brain, and behavior
20462563 Analysis of the serotonin transporter promoter rs25531 polymorphism in premenstrual dysphoric disorder. Magnay JL et al. 2010 American journal of obstetrics and gynecology
20468059 No association of the serotonin transporter polymorphisms 5-HTTLPR and RS25531 with schizophrenia or neurocognition. Konneker TI et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
20505557 Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics. Reese J et al. 2010 Psychiatric genetics
20515362 Genetic predictors of response to treatment with citalopram in depression secondary to traumatic brain injury. Lanctôt KL et al. 2010 Brain injury
20549395 Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. Cornelis MC et al. 2010 Current psychiatry reports
20584552 The role of clinical variables, neuropsychological performance and SLC6A4 and COMT gene polymorphisms on the prediction of early response to fluoxetine in major depressive disorder. Gudayol-Ferré E et al. 2010 Journal of affective disorders
20588071 Norepinephrine and serotonin transporter genes: impact on treatment response in depression. Baffa A et al. 2010 Neuropsychobiology
20691427 Genetic associations of brain structural networks in schizophrenia: a preliminary study. Jagannathan K et al. 2010 Biological psychiatry
20838391 Functional genetic variants that increase synaptic serotonin and 5-HT3 receptor sensitivity predict alcohol and drug dependence. Enoch MA et al. 2011 Molecular psychiatry
20862697 Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder. Perroud N et al. 2010 American journal of medical genetics. Part B, Neuropsychiatric genetics
20920548 Lack of association between the 5-HTTLPR and the error-related negativity (ERN). Olvet DM et al. 2010 Biological psychology
20971165 Relationships among 5-HTT genotype, life events and gender in the recognition of facial emotions. Antypa N et al. 2011 Neuroscience
21105279 Relation of serotonin transporter genetic variation to efficacy of escitalopram for generalized anxiety disorder in older adults. Lenze EJ et al. 2010 Journal of clinical psychopharmacology
21166770 Dopamine D4 receptor and serotonin transporter gene effects on the longitudinal development of infant temperament. Holmboe K et al. 2011 Genes, brain, and behavior
21172166 Pharmacogenetics of antidepressant response. Porcelli S et al. 2011 Journal of psychiatry & neuroscience
21232011 Serotonin transporter allelic variation in mothers predicts maternal sensitivity, behavior and attitudes toward 6-month-old infants. Mileva-Seitz V et al. 2011 Genes, brain, and behavior
21290142 Parent of origin effect and allelic expression imbalance of the serotonin transporter in bipolar disorder and suicidal behaviour. Pinto C et al. 2011 European archives of psychiatry and clinical neuroscience
21319930 Associations between serotonin transporter gene promoter region (5-HTTLPR) polymorphism and gaze bias for emotional information. Beevers CG et al. 2011 Journal of abnormal psychology
21333900 The role of genetics in IBS. Saito YA et al. 2011 Gastroenterology clinics of North America
21356267 5-HTTLPR and COMTval158met genotype gate amygdala reactivity and habituation. Lonsdorf TB et al. 2011 Biological psychology
21364196 A polymorphism in the serotonin transporter gene moderates cardiovascular reactivity to psychosocial stress. Way BM et al. 2011 Psychosomatic medicine
21364197 Effects of 5HTTLPR on cardiovascular response to an emotional stressor. Brummett BH et al. 2011 Psychosomatic medicine
21423614 Perception of thermal pain and the thermal grill illusion is associated with polymorphisms in the serotonin transporter gene. Lindstedt F et al. 2011 PloS one
21429092 Serotonin transporter gene variants and prediction of stress-induced risk for psychological distress. Stefanis NC et al. 2011 Genes, brain, and behavior
21439906 Human serotonin transporter gene (SLC6A4) variants: their contributions to understanding pharmacogenomic and other functional G×G and G×E differences in health and disease. Murphy DL et al. 2011 Current opinion in pharmacology
21441157 Serotonin transporter gene polymorphism in Chinese patients with poststroke depression: a case-control study. Fang J et al. 2011 Stroke
21453464 The influence of psychiatric screening in healthy populations selection: a new study and meta-analysis of functional 5-HTTLPR and rs25531 polymorphisms and anxiety-related personality traits. Minelli A et al. 2011 BMC psychiatry
21497794 A functional variant of the serotonin transporter gene (SLC6A4) moderates impulsive choice in attention-deficit/hyperactivity disorder boys and siblings. Sonuga-Barke EJ et al. 2011 Biological psychiatry
21504541 Association between neonatal temperament, SLC6A4, DRD4 and a functional polymorphism located in TFAP2B. Ivorra JL et al. 2011 Genes, brain, and behavior
21512516
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
21658141 Genetic variants in the serotonin transporter influence the efficacy of bupropion and nortriptyline in smoking cessation. Quaak M et al. 2012 Addiction (Abingdon, England)
21670732 Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms. Vinkhuyzen AA et al. 2011 Molecular psychiatry
21681867 Serotonin transporter gene and childhood trauma--a G × E effect on anxiety sensitivity. Klauke B et al. 2011 Depression and anxiety
21687501 Pharmacogenetics of antidepressants. Crisafulli C et al. 2011 Frontiers in pharmacology
21692988 No effect of 5HTTLPR or BDNF Val66Met polymorphism on hippocampal morphology in major depression. Cole J et al. 2011 Genes, brain, and behavior
21808609 Components of cross-frequency modulation in health and disease. Allen EA et al. 2011 Frontiers in systems neuroscience
21818827 The relationship between combat-related posttraumatic stress disorder and the 5-HTTLPR/rs25531 polymorphism. Wang Z et al. 2011 Depression and anxiety
21893641 Acute and posttraumatic stress symptoms in a prospective gene x environment study of a university campus shooting. Mercer KB et al. 2012 Archives of general psychiatry
21917807 Corticotropin-releasing hormone receptor type 1 (CRHR1) genetic variation and stress interact to influence reward learning. Bogdan R et al. 2011 The Journal of neuroscience
22058430 Genetic basis of pain variability: recent advances. Young EE et al. 2012 Journal of medical genetics
22086748 The serotonin transporter promoter polymorphism (5-HTTLPR) affects the relation between antidepressant serum concentrations and effectiveness in major depression. Dreimüller N et al. 2012 Pharmacopsychiatry
22094432 Perception of a naturalistic stressor interacts with 5-HTTLPR/rs25531 genotype and gender to impact reward responsiveness. Nikolova Y et al. 2012 Neuropsychobiology
22105624 The genetics of attention deficit/hyperactivity disorder in adults, a review. Franke B et al. 2012 Molecular psychiatry
22271047 Examining associations between disordered eating and serotonin transporter gene polymorphisms. Munn-Chernoff MA et al. 2012 The International journal of eating disorders
22271509 Association between the serotonin transporter triallelic genotype and eating problems is moderated by the experience of childhood trauma in women. Stoltenberg SF et al. 2012 The International journal of eating disorders
22348680 Somatic markers mediate the effect of serotonin transporter gene polymorphisms on Iowa Gambling Task. Miu AC et al. 2012 Genes, brain, and behavior
22384070 AVPR1A and SLC6A4 polymorphisms in choral singers and non-musicians: a gene association study. Morley AP et al. 2012 PloS one
22390669 Interaction between serotonin transporter polymorphism (5-HTTLPR) and stressful life events in adolescents' trajectories of anxious/depressed symptoms. Petersen IT et al. 2012 Developmental psychology
22489680 No difference in 5-HTTLPR and Stin2 polymorphisms frequency between premature ejaculation patients and controls. Zuccarello D et al. 2012 The journal of sexual medicine
22520017 Suicide ideators and attempters with schizophrenia--the role of 5-HTTLPR, rs25531, and 5-HTT VNTR Intron 2 variants. Božina N et al. 2012 Journal of psychiatric research
22529823 Connectomic intermediate phenotypes for psychiatric disorders. Fornito A et al. 2012 Frontiers in psychiatry
22623017 Serotonin transporter-linked polymorphic region (5-HTTLPR) genotype is associated with cortisol responsivity to naloxone challenge. Stephens MA et al. 2012 Psychopharmacology
22832657 A review on experimental and clinical genetic associations studies on fear conditioning, extinction and cognitive-behavioral treatment. Lonsdorf TB et al. 2011 Translational psychiatry
22836288 5-HTTLPR X stress in adolescent depression: moderation by MAOA and gender. Priess-Groben HA et al. 2013 Journal of abnormal child psychology
22884012 Influence of serotonin transporter promoter variation on the effects of separation from parent/partner on depression. Fandiño-Losada A et al. 2013 Journal of affective disorders
22907732 Interaction between polymorphisms in serotonin transporter (SLC6A4) and serotonin receptor 2A (HTR2A) genes predict treatment response to venlafaxine XR in generalized anxiety disorder. Lohoff FW et al. 2013 The pharmacogenomics journal
22913298 Respiratory sinus arrhythmia and serotonin transporter promoter gene polymorphisms: taking a triallelic approach makes a difference. Vulturar R et al. 2012 Psychophysiology
22921508 Association between serotonin transporter promoter polymorphisms and psychological distress in a diabetic population. Wilhelm K et al. 2012 Psychiatry research
22933845 Polymorphisms of the serotonin transporter and receptor genes: susceptibility to substance abuse. Herman AI et al. 2012 Substance abuse and rehabilitation
22957066 Functional gene polymorphisms in the serotonin system and traumatic life events modulate the neural basis of fear acquisition and extinction. Hermann A et al. 2012 PloS one
23021380 Strong effects of environmental factors on prevalence and course of major depressive disorder are not moderated by 5-HTTLPR polymorphisms in a large Dutch sample. Peyrot WJ et al. 2013 Journal of affective disorders
23033208 Characterization of serotonin transporter gene (SLC6A4) polymorphisms and its association with drug dependence in a Jordanian Arab population. Al-Eitan LN et al. 2014 Toxicology and industrial health
23092589 Colorado Twin Registry: an update. Rhea SA et al. 2013 Twin research and human genetics
23101739 The Generation R Study: a review of design, findings to date, and a study of the 5-HTTLPR by environmental interaction from fetal life onward. Tiemeier H et al. 2012 Journal of the American Academy of Child and Adolescent Psychiatry
23123360 Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder. Gadow KD et al. 2013 Progress in neuro-psychopharmacology & biological psychiatry
23149035 Association study of serotonin transporter availability and SLC6A4 gene polymorphisms in patients with major depression. Ho PS et al. 2013 Psychiatry research
23226060 Association of the 5-HTT gene-linked promoter region (5-HTTLPR) polymorphism with psychiatric disorders: review of psychopathology and pharmacotherapy. Kenna GA et al. 2012 Pharmacogenomics and personalized medicine
23236014 Polymorphisms of the serotonin transporter gene and post-stroke depression: a meta-analysis. Mak KK et al. 2013 Journal of neurology, neurosurgery, and psychiatry
23261136 State dependent gene-environment interaction: serotonin transporter gene-child abuse interaction associated with suicide attempt history among depressed psychiatric inpatients. Shinozaki G et al. 2013 Journal of affective disorders
23277270
23288236 5-HTTLPR rs25531A > G differentially influence paroxetine and fluvoxamine antidepressant efficacy: a randomized, controlled trial. Kato M et al. 2013 Journal of clinical psychopharmacology
23313272 An association study of suicide and candidate genes in the serotonergic system. Buttenschøn HN et al. 2013 Journal of affective disorders
23499791 Resting-state cerebral blood flow in amygdala is modulated by sex and serotonin transporter genotype. El-Hage W et al. 2013 NeuroImage
23510579 Worldwide population variation and haplotype analysis at the serotonin transporter gene SLC6A4 and implications for association studies. Murdoch JD et al. 2013 Biological psychiatry
23630162 Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder. Moya PR et al. 2013 Movement disorders
23643106 Modulation of amygdala response and connectivity in depression by serotonin transporter polymorphism and diagnosis. Costafreda SG et al. 2013 Journal of affective disorders
23766564 Pharmacogenetics of chronic pain and its treatment. Světlík S et al. 2013 Mediators of inflammation
23787408 Prediction of the time-course pattern of remission in depression by using clinical, neuropsychological, and genetic variables. Gudayol-Ferré E et al. 2013 Journal of affective disorders
23856854 Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders. McCracken JT et al. 2014 The pharmacogenomics journal
23943515 Attention biases and habituation of attention biases are associated with 5-HTTLPR and COMTval158met. Lonsdorf TB et al. 2014 Cognitive, affective & behavioral neuroscience
23969989 Evidence of increased risk for major depressive disorder in individuals homozygous for the high-expressing 5-HTTLPR/rs25531 (L(A)) allele of the serotonin transporter promoter. Stacey D et al. 2013 Psychiatric genetics
23973251 SLC6A4 polymorphisms and age of onset in late-life depression on treatment outcomes with citalopram: a Sequenced Treatment Alternatives to Relieve Depression (STAR*D) report. Shiroma PR et al. 2014 The American journal of geriatric psychiatry
24021217 Common selective serotonin reuptake inhibitor side effects in older adults associated with genetic polymorphisms in the serotonin transporter and receptors: data from a randomized controlled trial. Garfield LD et al. 2014 The American journal of geriatric psychiatry
24044728 Triallelic relationships between the serotonin transporter polymorphism and cognition among healthy older adults. Salminen LE et al. 2014 The International journal of neuroscience
24064711 Genotyping serotonin transporter polymorphisms 5-HTTLPR and rs25531 in European- and African-American subjects from the National Institute of Mental Health's Collaborative Center for Genomic Studies. Odgerel Z et al. 2013 Translational psychiatry
24192302 Polymorphisms in serotonergic pathways influence the outcome of antidepressant therapy in psychiatric inpatients. Staeker J et al. 2014 Genetic testing and molecular biomarkers
24286237 Genetic variation in the monoamine oxidase A and serotonin transporter genes in sudden infant death syndrome. Opdal SH et al. 2014 Acta paediatrica (Oslo, Norway
24438559 The serotonin transporter polymorphism (5-HTTLPR) and personality: response style as a new endophenotype for anxiety. Plieger T et al. 2014 The international journal of neuropsychopharmacology
24462335 Serotonin-1A receptor CC genotype is associated with persistent depression related to interferon-alpha in hepatitis C patients. Galvão-de Almeida A et al. 2014 General hospital psychiatry
24497894 A Conceptual Model of Psychoneurological Symptom Cluster Variation in Women with Breast Cancer: Bringing Nursing Research to Personalized Medicine. Starkweather AR et al. 2013 Current pharmacogenomics and personalized medicine
24679990 Serotonin transporter gene hypomethylation predicts impaired antidepressant treatment response. Domschke K et al. 2014 The international journal of neuropsychopharmacology
24684793 Serotonin transporter polymorphic region 5-HTTLPR modulates risk for Parkinson's disease. Zhang X et al. 2014 Neurobiology of aging
24776739 Multimodal imaging of a tescalcin (TESC)-regulating polymorphism (rs7294919)-specific effects on hippocampal gray matter structure. Dannlowski U et al. 2015 Molecular psychiatry
24862560 Serotonin transporter gene methylation is associated with hippocampal gray matter volume. Dannlowski U et al. 2014 Human brain mapping
24874919 5-HTTLPR/rs25531 polymorphism and neuroticism are linked by resting state functional connectivity of amygdala and fusiform gyrus. Kruschwitz JD et al. 2015 Brain structure & function
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
24885933 Towards the clinical implementation of pharmacogenetics in bipolar disorder. Salloum NC et al. 2014 BMC medicine
25045629 Is catechol-o-methyltransferase gene polymorphism a risk factor in the development of premenstrual syndrome? Deveci EO et al. 2014 Clinical and experimental reproductive medicine
25214390 Interaction among childhood trauma and functional polymorphisms in the serotonin pathway moderate the risk of depressive disorders. Van der Auwera S et al. 2014 European archives of psychiatry and clinical neuroscience
25223859 Serotonin risk factors for the development of hypertension in pregnancy. Sabolovic Rudman S et al. 2015 Archives of gynecology and obstetrics
25295552 SLC6A2 and SLC6A4 variants interact with venlafaxine serum concentrations to influence therapy outcome. Proft F et al. 2014 Pharmacopsychiatry
25297871 Serotonin transporter polymorphism modifies the association between depressive symptoms and sleep onset latency complaint in elderly people: results from the 'InveCe.Ab' study. Polito L et al. 2015 Journal of sleep research
25451724 Serotonin transporter polymorphisms predict response inhibition in healthy volunteers. Landrø NI et al. 2015 Neuroscience letters
25548468 Genetic polymorphism in pathogenesis of irritable bowel syndrome. Cheung CK et al. 2014 World journal of gastroenterology
25558276 Genetic Variation in Serotonin Transporter Modulates Tactile Hyperresponsiveness in ASD. Schauder KB et al. 2015 Research in autism spectrum disorders
25564228 Population frequencies of the Triallelic 5HTTLPR in six Ethnicially diverse samples from North America, Southeast Asia, and Africa. Haberstick BC et al. 2015 Behavior genetics
25630596 Psychological distress following marital separation interacts with a polymorphism in the serotonin transporter gene to predict cardiac vagal control in the laboratory. Hasselmo K et al. 2015 Psychophysiology
25671637 Relationship of genetic variation in the serotonin transporter gene (SLC6A4) and congenital and acquired cardiovascular diseases. Moyer AM et al. 2015 Genetic testing and molecular biomarkers
25770138 Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Italian population. Pascale E et al. 2015 Alcohol and alcoholism (Oxford, Oxfordshire)
25781924 Association of functional polymorphisms from brain-derived neurotrophic factor and serotonin-related genes with depressive symptoms after a medical stressor in older adults. Rawson KS et al. 2015 PloS one
25793742 An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans. Liu Y et al. 2015 PloS one
25819021 A review of pharmacogenetic studies of substance-related disorders. Jones JD et al. 2015 Drug and alcohol dependence
25903736 Serotonin transporter gene polymorphisms: Relation with platelet serotonin level in patients with primary Sjogren's syndrome. Markeljevic J et al. 2015 Journal of neuroimmunology
25990886 Impact of monoamine-related gene polymorphisms on hippocampal volume in treatment-resistant depression. Phillips JL et al. 2015 Acta neuropsychiatrica
26131011 Lack of association of DRD3 and CNR1 polymorphisms with premenstrual dysphoric disorders. Yıldız M et al. 2015 Iranian journal of reproductive medicine
26175754 DNA methylation and single nucleotide variants in the brain-derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety/depression in older women. Chagnon YC et al. 2015 Frontiers in genetics
26189450 Genetic Moderation of Stress Effects on Corticolimbic Circuitry. Bogdan R et al. 2016 Neuropsychopharmacology
26232751 Interaction of the 5-HTTLPR and childhood trauma influences memory bias in healthy individuals. Vrijsen JN et al. 2015 Journal of affective disorders
26429811 A GWAS SNP for Schizophrenia Is Linked to the Internal MIR137 Promoter and Supports Differential Allele-Specific Expression. Warburton A et al. 2016 Schizophrenia bulletin
26464328 Role of the 5-HTTLPR and SNP Promoter Polymorphisms on Serotonin Transporter Gene Expression: a Closer Look at Genetic Architecture and In Vitro Functional Studies of Common and Uncommon Allelic Variants. Iurescia S et al. 2016 Molecular neurobiology
26473596 Maintenance of Chronic Fatigue Syndrome (CFS) in Young CFS Patients Is Associated with the 5-HTTLPR and SNP rs25531 A > G Genotype. Meyer B et al. 2015 PloS one
26542422 Interaction between SLC6A4 promoter variants and childhood trauma on the age at onset of bipolar disorders. Etain B et al. 2015 Scientific reports
26598970 Influence of Serotonin Transporter Gene Polymorphisms and Adverse Life Events on Depressive Symptoms in the Elderly: A Population-Based Study. Davin A et al. 2015 PloS one
26635248 Serotonin transporter variants play a role in anxiety sensitivity in South African adolescents. Hemmings SM et al. 2016 The world journal of biological psychiatry
26643280 Human fear acquisition deficits in relation to genetic variants of the corticotropin-releasing hormone receptor 1 and the serotonin transporter--revisited. Heitland I et al. 2016 Genes, brain, and behavior
26885402 Linking Mitochondria to Synapses: New Insights for Stress-Related Neuropsychiatric Disorders. Jeanneteau F et al. 2016 Neural plasticity
26929662 The pharmacogenomics of pain management: prospects for personalized medicine. Ting S et al. 2016 Journal of pain research
26974654 Serotonin and Dopamine Gene Variation and Theory of Mind Decoding Accuracy in Major Depression: A Preliminary Investigation. Zahavi AY et al. 2016 PloS one
26989097 Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. Coleman JR et al. 2016 The British journal of psychiatry
27045756 TPH1 and 5-HTTLPR Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence. Wang TY et al. 2016 European addiction research
27079569 Face and emotion expression processing and the serotonin transporter polymorphism 5-HTTLPR/rs22531. Hildebrandt A et al. 2016 Genes, brain, and behavior
27145764 Influence of 5-HTT variation, childhood trauma and self-efficacy on anxiety traits: a gene-environment-coping interaction study. Schiele MA et al. 2016 Journal of neural transmission (Vienna, Austria
27168345 Neurobiological markers predicting treatment response in anxiety disorders: A systematic review and implications for clinical application. Lueken U et al. 2016 Neuroscience and biobehavioral reviews
27375535 Molecular Signatures of Natural Selection for Polymorphic Genes of the Human Dopaminergic and Serotonergic Systems: A Review. Taub DR et al. 2016 Frontiers in psychology
27427178 Prenatal maternal depression and child serotonin transporter linked polymorphic region (5-HTTLPR) and dopamine receptor D4 (DRD4) genotype predict negative emotionality from 3 to 36 months. Green CG et al. 2017 Development and psychopathology
27439447 Serotonin transporter gene (SLC6A4) polymorphisms are associated with response to fluoxetine in south Indian major depressive disorder patients. Manoharan A et al. 2016 European journal of clinical pharmacology
27448744 The translocator protein gene is associated with symptom severity and cerebral pain processing in fibromyalgia. Kosek E et al. 2016 Brain, behavior, and immunity
27462201 From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research. Pagliaroli L et al. 2016 Frontiers in neuroscience
27529241 The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? Daud AN et al. 2016 International journal of molecular sciences
27573591 Personality traits as an endophenotype in genetic studies on suicidality in bipolar disorder. Pawlak J et al. 2017 Acta neuropsychiatrica
27708560 Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Alexander J et al. 2016 Frontiers in neuroscience
27720787 Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery. Eshragh J et al. 2017 Journal of pain and symptom management
27788383 Gender-specific association between serotonin transporter polymorphisms (5-HTTLPR and rs25531) and neuroticism, anxiety and depression in well-defined healthy Han Chinese. Chang CC et al. 2017 Journal of affective disorders
27933583 Looking Beyond the 5-HTTLPR Polymorphism: Genetic and Epigenetic Layers of Regulation Affecting the Serotonin Transporter Gene Expression. Iurescia S et al. 2017 Molecular neurobiology
28127926 5-HTTLPR and DISC1 risk genotypes for elevated PTSD symptoms in US military veterans. Young KA et al. 2017 World psychiatry
28142104 A genetic risk factor for major depression and suicidal ideation is mitigated by physical activity. Taylor MK et al. 2017 Psychiatry research
28242565 Biallelic and triallelic approaches of 5-HTTLPR polymorphism are associated with food intake and nutritional status in childhood. Miranda RCK et al. 2017 The Journal of nutritional biochemistry
28267464 Population differences in associations of serotonin transporter promoter polymorphism (5HTTLPR) di- and triallelic genotypes with blood pressure and hypertension prevalence. Williams RB et al. 2017 American heart journal
28282362 Gene-to-gene interactions regulate endogenous pain modulation in fibromyalgia patients and healthy controls-antagonistic effects between opioid and serotonin-related genes. Tour J et al. 2017 Pain
28444137 Effects of Serotonin Transporter Gene Variation on Impulsivity Mediated by Default Mode Network: A Family Study of Depression. Cha J et al. 2018 Cerebral cortex (New York, N.Y.
28533695 The triallelic serotonin transporter gene polymorphism is associated with depressive symptoms in adults with chronic pain. Hooten WM et al. 2017 Journal of pain research
28608626 Serotonergic 5HTTLPR/rs25531 s-allele homozygosity associates with violent suicides in male citalopram users. Rahikainen AL et al. 2017 American journal of medical genetics. Part B, Neuropsychiatric genetics
28650965 Epigenetic adaptation of the placental serotonin transporter gene (SLC6A4) to gestational diabetes mellitus. Blazevic S et al. 2017 PloS one
28691545 Association of the functional serotonin transporter haplotype with familial form of obsessive compulsive disorder in Iranian patients. Rashidi FS et al. 2018 International journal of psychiatry in clinical practice
28743254 Association between serotonin transporter gene polymorphisms and increased suicidal risk among HIV positive patients in Uganda. Kalungi A et al. 2017 BMC genetics
28848411 Individual Differences in the Speed of Facial Emotion Recognition Show Little Specificity but Are Strongly Related with General Mental Speed: Psychometric, Neural and Genetic Evidence. Liu X et al. 2017 Frontiers in behavioral neuroscience
28927418 A systematic review and integrative approach to decode the common molecular link between levodopa response and Parkinson's disease. Guin D et al. 2017 BMC medical genomics
29102815 Combining genetic and epigenetic parameters of the serotonin transporter gene in obsessive-compulsive disorder. Grünblatt E et al. 2018 Journal of psychiatric research
29114103 Association of Serotonin Transporter Gene AluJb Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress. Schneider I et al. 2018 Neuropsychopharmacology
29286513 Influence of polymorphic variants of the SLC6A4 gene on the frequency of detection of depressive states in the group of the clean up workers of consequences of Chornobyl accident in the remote period after the Chornobyl catastrophe. Abramenko IV et al. 2017 Problemy radiatsiinoi medytsyny ta radiobiolohii
29551496 CR1 gene polymorphisms in Chinese patients with paroxysmal nocturnal hemoglobinuria. Long Z et al. 2018 Gene
29614501 The Serotonin Transporter Gene Polymorphisms and Risk of Ischemic Stroke. Mortensen JK et al. 2018 Cerebrovascular diseases (Basel, Switzerland)
29712944 Appetitive and reactive aggression are differentially associated with the STin2 genetic variant in the serotonin transporter gene. Hemmings SMJ et al. 2018 Scientific reports
29760654 Failure to Replicate the Association Between Fractional Anisotropy and the Serotonin Transporter Gene (5-HTTLPR, rs25531). Klucken T et al. 2018 Frontiers in behavioral neuroscience
29957477 5-HTT mRNA level as a potential biomarker of treatment response in patients with major depression in a clinical trial. Kao WT et al. 2018 Journal of affective disorders
29982901 Examining the effect of 5-HTTLPR on depressive symptoms in postmenopausal women 1 year after initial breast cancer treatment. Wang JS et al. 2019 Supportive care in cancer
30083112 Genetics Factors in Major Depression Disease. Shadrina M et al. 2018 Frontiers in psychiatry
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30121542 A pilot study of early onset obsessive-compulsive disorder: Symptom dimensions and association analysis with polymorphisms of the serotonin transporter gene. Kenezloi E et al. 2018 Psychiatry research
30180828 Genotype-dependent associations between serotonin transporter gene (SLC6A4) DNA methylation and late-life depression. Lam D et al. 2018 BMC psychiatry
30219683 Association of HTR2A-1438G/A Genetic Polymorphism With Smoking and Chronic Obstructive Pulmonary Disease. Verde Z et al. 2019 Archivos de bronconeumologia
30223673 A Systematic Review of Genetic Influence on Psychological Resilience. Niitsu K et al. 2019 Biological research for nursing
30394015 Association of polymorphic variants in serotonin re-uptake transporter gene with Crohn's disease: a retrospective case-control study. Grubelic Ravić K et al. 2018 Croatian medical journal
30520759 Association Study Between Serotonin Transporter Gene and Fluoxetine Response in Mexican Patients With Major Depressive Disorder. Camarena B et al. 2019 Clinical neuropharmacology
30582858 NEUROPSYCHOBIOLOGICAL MECHANISMS OF AFFECTIVE AND COGNITIVE DISORDERS IN THE CHORNOBYL CLEAN-UP WORKERS TAKING INTO ACCOUNT THE SPECIFIC GENE POLYMORPHISMS. Loganovsky KN et al. 2018 Problemy radiatsiinoi medytsyny ta radiobiolohii
30707907 Stress response genes associated with attention deficit hyperactivity disorder: A case-control study in Chinese children. Chen X et al. 2019 Behavioural brain research
30886676 Polymorphisms of serotonin transporter gene and psychological status in patients with multiple sclerosis. Farjadian S et al. 2018 Iranian journal of neurology
30999228 Serotonin transporter gene methylation predicts long-term cortisol concentrations in hair. Alexander N et al. 2019 Psychoneuroendocrinology
31023072 Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms. Knisely MR et al. 2019 Biological research for nursing
31024427 <i>SLC6A4</i> Repeat and Single-Nucleotide Polymorphisms Are Associated With Depression and Rest Tremor in Parkinson's Disease: An Exploratory Study. Wang JY et al. 2019 Frontiers in neurology
31213395 The 5-HTTLPR rs25531 L<sub>A</sub>L<sub>A</sub>-genotype increases the risk of insomnia symptoms among shift workers. Pallesen S et al. 2019 Sleep medicine

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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