rs2066713

Chromosome : 17 , Position: 30224647

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: A

Associated Genes

BLMH

CPD

GOSR1

EFCAB5

GIT1

ABHD15

CORO6

SLC6A4

ANKRD13B

SSH2

NSRP1

TMIGD1

TP53I13

Summary

[PMID 19713975] Evidence of association of serotonin transporter gene polymorphisms with schizophrenia in a South Indian population

[PMID 15361494] Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women.

[PMID 16848906] Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

[PMID 17483451] Gene-gene interaction associated with neural reward sensitivity.

[PMID 18937309] Sexually dimorphic effects of four genes (COMT, SLC6A2, MAOA, SLC6A4) in genetic associations of ADHD: a preliminary study.

[PMID 19199283] Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples.

[PMID 19351213] Development and validation of a high-throughput screening method for two polymorphisms in the serotonin transporter gene.

[PMID 19588468] Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

[PMID 19673036] Association of tagging single nucleotide polymorphisms on 8 candidate genes in dopaminergic pathway with schizophrenia in Croatian population.

[PMID 19772600] A comparison of classification methods for predicting Chronic Fatigue Syndrome based on genetic data.

[PMID 19844206] Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.

[PMID 19845785] Single nucleotide polymorphisms of the serotonin transporter gene in migraine–an association study.

[PMID 20395645] Association study of serotonin transporter gene (SLC6A4) in systemic sclerosis in European Caucasian populations.

[PMID 24590108] Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data

[PMID 25927430] Association of DRD3, COMT, and SLC6A4 Gene Polymorphisms with Type 2 Diabetes in Southern Chinese: A Hospital-Based Case-Control Study

More Information

The ''G'' allele was significantly associated with schizophrenia (P-value=0.0059) [R].

A significant lower prevalence for migraine with aura (MA) was seen in carriers of the ''A'' allele in women [R].

A/A patients reported the onset of post-operative pain (mean 145.7 mins) longer (p = 0.025) than heterozygous (124.4 mins) and C/C homozygous patients (mean 117.6 mins) [R].

''A'' allele showed a marginally increased risk for type 2 diabetes (T2D) [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.2572
Latino/Admixed American	0.3038
Ashkenazi Jewish	0.3345
East Asian	0.0705
European	0.395
Other (population not assigned)	0.3814

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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