SNP Report
Basic Info
| Name | rs816353 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 12:117246975 - 117246975(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | T | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.369209 | ||
| Annotation | upstream_gene_variant; intron_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000548625); intron_variant(ENST00000317775, ENST00000338101, ENST00000344089, ENST00000618760) | ||
| SIFT Annotation | tolerated_-_low_confidence | ||
| SIFT Variant Effect | tolerated_-_low_confidence(ENST00000618760, ENST00000338101) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000618760, ENST00000338101) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Bruenig, D.,2017(b) | CAPS score | ANOVA: P-value>0.05 ANOVA: P-value>0.05 | This SNP was not associated with PTSD severity. This SNP was not associated with PTSD severity. | Non-significant |
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| TCEB1P32 | transcription elongation factor B (SIII), polypeptide 1 pseudogene 32 | 12q24.22 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
| NOS1 | nitric oxide synthase 1 | 12q24.22 | 1(1/0/0) |
SNPs in LD with rs816353 (count: 15)
Literature-origin SNPs (count: 0)
LD-proxies (count: 15)
SNP related eQTL (count: 1)