chr17:30237328:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:28,564,346-28,564,346 View the variant detail on this assembly version. |
| hg38 | chr17:30,237,328-30,237,328 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.044 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.127 | depressive disorder | We hypothesize that functional polymorphisms (TPH2: rs7305115, 5-HTTLPR and rs25... | BeFree | 25214390 | Detail |
| 0.127 | depressive disorder | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| 0.008 | osteochondritis dissecans | Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was mor... | BeFree | 23630162 | Detail |
| 0.005 | borderline personality disorder | These data do not suggest independent or interactive effects of the TH Val(81)Me... | BeFree | 20146650 | Detail |
| 0.052 | Mental Depression | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| 0.155 | Mental Depression | The serotonin transporter (5-HTT) and the 5-HTTLPR/rs25531 polymorphisms in its ... | BeFree | 24862560 | Detail |
| 0.038 | Unipolar Depression | Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation ... | BeFree | 25675343 | Detail |
| 0.007 | Cerebrovascular accident | There were significant intergroup differences in the allelic frequencies of 5-HT... | BeFree | 18441666 | Detail |
| 0.008 | Affective Disorders, Psychotic | Two polymorphisms in the 5-HTT gene (a 44 bp insertion/deletion in the promoter ... | BeFree | 20031235 | Detail |
| 0.229 | schizophrenia | Suicide ideators and attempters with schizophrenia--the role of 5-HTTLPR, rs2553... | BeFree | 22520017 | Detail |
| 0.082 | attention deficit hyperactivity disorder | Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum d... | BeFree | 23123360 | Detail |
| <0.001 | atypical depressive disorder | To further delineate the impact of 5-HTT gene variation on psychopathology in de... | BeFree | 18050262 | Detail |
| 0.215 | Alcoholic Intoxication, Chronic | Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR a... | BeFree | 25770138 | Detail |
| 0.226 | sudden infant death syndrome | This article indicates that neither the VNTR in the promoter of the MAOA gene, n... | BeFree | 24286237 | Detail |
| <0.001 | psychological distress | Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological... | BeFree | 22921508 | Detail |
| 0.011 | depressive disorder | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| 0.264 | Anxiety Disorders | Subgroups based on the age of OCD onset, gender, familiality, factor analysis-de... | BeFree | 17375136 | Detail |
| <0.001 | Dysphoric mood | These findings do not support a major role for rs25531, either in isolation or c... | BeFree | 20462563 | Detail |
| 0.002 | Single major depressive episode | To further delineate the impact of 5-HTT gene variation on psychopathology in de... | BeFree | 18050262 | Detail |
| 0.282 | depressive disorder | The present study is to investigate the association between the polymorphisms in... | BeFree | 19429111 | Detail |
| 0.083 | depressive disorder | Seven polymorphisms in the promoter, intronic and exonic region of the NET gene,... | BeFree | 20588071 | Detail |
| 0.046 | irritable bowel syndrome | In this exploratory study we therefore expanded the search for a possible associ... | BeFree | 19125330 | Detail |
| 0.233 | major depressive disorder | A variable number of tandem repeats (short (S) vs long (L)) in the promoter regi... | BeFree | 20090673 | Detail |
| 0.120 | Mental Depression | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| <0.001 | obsessive-compulsive disorder | Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was mor... | BeFree | 23630162 | Detail |
| 0.017 | post-traumatic stress disorder | The relationship between combat-related posttraumatic stress disorder and the 5-... | BeFree | 21818827 | Detail |
| 0.155 | Mental Depression | To further delineate the impact of 5-HTT gene variation on psychopathology in de... | BeFree | 18050262 | Detail |
| <0.001 | Diabetes | Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological... | BeFree | 22921508 | Detail |
| 0.176 | obsessive-compulsive disorder | Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was mor... | BeFree | 23630162 | Detail |
| 0.282 | depressive disorder | Although preliminary, these findings identify anhedonia as a promising mechanism... | BeFree | 22094432 | Detail |
| 0.021 | Depressive Symptoms | We found no evidence for an association between variants of 5-HTTLPR and rs25531... | BeFree | 19429111 | Detail |
| 0.002 | Autism Spectrum Disorders | Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum d... | BeFree | 23123360 | Detail |
| 0.282 | depressive disorder | The serotonin transporter (5-HTT) and the 5-HTTLPR/rs25531 polymorphisms in its ... | BeFree | 24862560 | Detail |
| 0.046 | irritable bowel syndrome | [In this exploratory study we therefore expanded the search for a possible assoc... | GAD | 19125330 | Detail |
| 0.155 | Mental Depression | The present study is to investigate the association between the polymorphisms in... | BeFree | 19429111 | Detail |
| 0.264 | Anxiety Disorders | The influence of psychiatric screening in healthy populations selection: a new s... | BeFree | 21453464 | Detail |
| 0.002 | Depressive Symptoms | We examined the valine (Val) to methionine (Met) polymorphism in brain-derived n... | BeFree | 25781924 | Detail |
| 0.282 | depressive disorder | We hypothesize that functional polymorphisms (TPH2: rs7305115, 5-HTTLPR and rs25... | BeFree | 25214390 | Detail |
| <0.001 | osteochondritis dissecans | Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was mor... | BeFree | 23630162 | Detail |
| 0.233 | major depressive disorder | Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation ... | BeFree | 25675343 | Detail |
| <0.001 | Blushing | The less active 5-HTTLPR genotypes were nominally significantly associated with ... | BeFree | 18629430 | Detail |
| 0.008 | osteochondritis dissecans | To explore the hypothesis that this variability might result from the effects of... | BeFree | 17375136 | Detail |
| 0.003 | Pain | [This is the first report showing an influence of the triallelic 5-HTTLPR on pai... | GAD | 19570226 | Detail |
| 0.155 | Mental Depression | Although preliminary, these findings identify anhedonia as a promising mechanism... | BeFree | 22094432 | Detail |
| <0.001 | diabetes mellitus | Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological... | BeFree | 22921508 | Detail |
| 0.038 | Unipolar Depression | A variable number of tandem repeats (short (S) vs long (L)) in the promoter regi... | BeFree | 20090673 | Detail |
| 0.009 | depressive disorder | The aim of our work is to study the possible role of clinical variables, neurops... | BeFree | 24446536 | Detail |
| <0.001 | Stress Disorders, Traumatic, Acute | We found that although the STin2 variant and 5-HTTLPR alone did not associate wi... | BeFree | 21893641 | Detail |
| 0.028 | Mental Depression | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| 0.005 | Premenstrual syndrome | [These findings do not support a major role for rs25531, either in isolation or ... | GAD | 20462563 | Detail |
| 0.248 | depressive disorder | Six functional SNPs in genes related to the serotonergic system were examined: s... | BeFree | 20515362 | Detail |
| 0.007 | Cerebrovascular accident | The 5-HTTLPR and the STin2 VNTR, but not the rs25531, polymorphisms of SERT are ... | BeFree | 18981341 | Detail |
| 0.001 | Phobia, Social | The less active 5-HTTLPR genotypes were nominally significantly associated with ... | BeFree | 18629430 | Detail |
| 0.038 | Mental Depression | The aim of our work is to study the possible role of clinical variables, neurops... | BeFree | 24446536 | Detail |
| 0.015 | Mental disorders | Subgroups based on the age of OCD onset, gender, familiality, factor analysis-de... | BeFree | 17375136 | Detail |
| 0.001 | Phobia, Social | Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation ... | BeFree | 25675343 | Detail |
| 0.282 | depressive disorder | To further delineate the impact of 5-HTT gene variation on psychopathology in de... | BeFree | 18050262 | Detail |
| 0.003 | Atrial Septal Defects | The 5-HTTLPR/rs25531 polymorphism or its correlates may modulate severity of ADH... | BeFree | 23123360 | Detail |
| 0.019 | Mental Depression | Seven polymorphisms in the promoter, intronic and exonic region of the NET gene,... | BeFree | 20588071 | Detail |
| 0.029 | Psychotic Disorders | To examine the role of 5-HTTLPR, rs25531 and 5-HTT VNTR Intron 2 variants in sub... | BeFree | 22520017 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We hypothesize that functional polymorphisms (TPH2: rs7305115, 5-HTTLPR and rs25531) within both gen... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD pro... | DisGeNET | Detail |
| These data do not suggest independent or interactive effects of the TH Val(81)Met, the 5-HTTLPR/rs25... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| The serotonin transporter (5-HTT) and the 5-HTTLPR/rs25531 polymorphisms in its gene (SLC6A4) have b... | DisGeNET | Detail |
| Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation linked with altered ... | DisGeNET | Detail |
| There were significant intergroup differences in the allelic frequencies of 5-HTTLPR/rs25531 (SA, LA... | DisGeNET | Detail |
| Two polymorphisms in the 5-HTT gene (a 44 bp insertion/deletion in the promoter region and the funct... | DisGeNET | Detail |
| Suicide ideators and attempters with schizophrenia--the role of 5-HTTLPR, rs25531, and 5-HTT VNTR In... | DisGeNET | Detail |
| Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder. | DisGeNET | Detail |
| To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this an... | DisGeNET | Detail |
| Alcohol dependence and serotonin transporter functional polymorphisms 5-HTTLPR and rs25531 in an Ita... | DisGeNET | Detail |
| This article indicates that neither the VNTR in the promoter of the MAOA gene, nor rs25531 in the ge... | DisGeNET | Detail |
| Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological distress in a sampl... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| Subgroups based on the age of OCD onset, gender, familiality, factor analysis-derived symptom dimens... | DisGeNET | Detail |
| These findings do not support a major role for rs25531, either in isolation or combined with 5-HTTLP... | DisGeNET | Detail |
| To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this an... | DisGeNET | Detail |
| The present study is to investigate the association between the polymorphisms in the promoter of the... | DisGeNET | Detail |
| Seven polymorphisms in the promoter, intronic and exonic region of the NET gene, as well as serotoni... | DisGeNET | Detail |
| In this exploratory study we therefore expanded the search for a possible association of the seroton... | DisGeNET | Detail |
| A variable number of tandem repeats (short (S) vs long (L)) in the promoter region of the serotonin ... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD pro... | DisGeNET | Detail |
| The relationship between combat-related posttraumatic stress disorder and the 5-HTTLPR/rs25531 polym... | DisGeNET | Detail |
| To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this an... | DisGeNET | Detail |
| Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological distress in a sampl... | DisGeNET | Detail |
| Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD pro... | DisGeNET | Detail |
| Although preliminary, these findings identify anhedonia as a promising mechanism linking 5-HTTLPR/rs... | DisGeNET | Detail |
| We found no evidence for an association between variants of 5-HTTLPR and rs25531 alleles, and depres... | DisGeNET | Detail |
| Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder. | DisGeNET | Detail |
| The serotonin transporter (5-HTT) and the 5-HTTLPR/rs25531 polymorphisms in its gene (SLC6A4) have b... | DisGeNET | Detail |
| [In this exploratory study we therefore expanded the search for a possible association of the seroto... | DisGeNET | Detail |
| The present study is to investigate the association between the polymorphisms in the promoter of the... | DisGeNET | Detail |
| The influence of psychiatric screening in healthy populations selection: a new study and meta-analys... | DisGeNET | Detail |
| We examined the valine (Val) to methionine (Met) polymorphism in brain-derived neurotrophic factor (... | DisGeNET | Detail |
| We hypothesize that functional polymorphisms (TPH2: rs7305115, 5-HTTLPR and rs25531) within both gen... | DisGeNET | Detail |
| Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD pro... | DisGeNET | Detail |
| Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation linked with altered ... | DisGeNET | Detail |
| The less active 5-HTTLPR genotypes were nominally significantly associated with increased blushing p... | DisGeNET | Detail |
| To explore the hypothesis that this variability might result from the effects of differing combinati... | DisGeNET | Detail |
| [This is the first report showing an influence of the triallelic 5-HTTLPR on pain sensitivity or the... | DisGeNET | Detail |
| Although preliminary, these findings identify anhedonia as a promising mechanism linking 5-HTTLPR/rs... | DisGeNET | Detail |
| Findings suggest that 5-HTTLPR/rs25531 genotype is associated with psychological distress in a sampl... | DisGeNET | Detail |
| A variable number of tandem repeats (short (S) vs long (L)) in the promoter region of the serotonin ... | DisGeNET | Detail |
| The aim of our work is to study the possible role of clinical variables, neuropsychological performa... | DisGeNET | Detail |
| We found that although the STin2 variant and 5-HTTLPR alone did not associate with increased PTSD sy... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| [These findings do not support a major role for rs25531, either in isolation or combined with 5-HTTL... | DisGeNET | Detail |
| Six functional SNPs in genes related to the serotonergic system were examined: serotonin transporter... | DisGeNET | Detail |
| The 5-HTTLPR and the STin2 VNTR, but not the rs25531, polymorphisms of SERT are associated with PSD ... | DisGeNET | Detail |
| The less active 5-HTTLPR genotypes were nominally significantly associated with increased blushing p... | DisGeNET | Detail |
| The aim of our work is to study the possible role of clinical variables, neuropsychological performa... | DisGeNET | Detail |
| Subgroups based on the age of OCD onset, gender, familiality, factor analysis-derived symptom dimens... | DisGeNET | Detail |
| Utilizing a triallelic assay (5-HTTLPR and rs25531) to assess genetic variation linked with altered ... | DisGeNET | Detail |
| To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this an... | DisGeNET | Detail |
| The 5-HTTLPR/rs25531 polymorphism or its correlates may modulate severity of ADHD and ASD symptoms i... | DisGeNET | Detail |
| Seven polymorphisms in the promoter, intronic and exonic region of the NET gene, as well as serotoni... | DisGeNET | Detail |
| To examine the role of 5-HTTLPR, rs25531 and 5-HTT VNTR Intron 2 variants in subjects with psychotic... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs25531 dbSNP
- Genome
- hg38
- Position
- chr17:30,237,328-30,237,328
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- VQSRTrancheSNP99.60to99.80
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs25531
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0436
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 578
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13246
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