SNP Report
Basic Info
| Name | rs12939390 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:30308670 - 30308670(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | C | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.325679 | ||
| Annotation | upstream_gene_variant | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000584603, ENST00000261714, ENST00000578090, ENST00000577290) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000584603, ENST00000261714, ENST00000578090, ENST00000577290) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Enhancers;Weak transcription | ||
| No. of Marker's Association Results | 2 (Positive: 0; Negative: 2; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Solovieff, N.,2014 | PTSD diagnosis | P-value=0.006 P-value=0.006 | Achieved nominal levels of significance with PTSD diagnosis,...... Achieved nominal levels of significance with PTSD diagnosis, although was not significant after correction for multiple testing More... | Non-significant |
| Solovieff, N.,2014 | PTSD severity | P-value=0.003 P-value=0.003 | Achieved nominal levels of significance with PTSD severity, ...... Achieved nominal levels of significance with PTSD severity, although was not significant after correction for multiple testing More... | Non-significant |
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| SLC6A4 | solute carrier family 6 (neurotransmitter transporter), member 4 | 17q11.2 | 44(13/31/0) |
| GOSR1 | golgi SNAP receptor complex member 1 | 17q11 | rSNP target |
SNPs in LD with rs12939390 (count: 22)
Literature-origin SNPs (count: 0)
LD-proxies (count: 22)
SNP related eQTL (count: 1)