SNP Report
Basic Info
| Name | rs6311 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 13:46897343 - 46897343(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.44349 | ||
| Annotation | upstream_gene_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000378688, ENST00000542664, ENST00000612998, ENST00000543956) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000542664, ENST00000543956, ENST00000378688) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000542664, ENST00000543956, ENST00000378688) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Enhancers;Active TSS;Flanking Active TSS;Bivalent Enhancer;Bivalent/Poised TSS | ||
| No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Mellman, T. A.,2009 | PTSD | Chi-square test: X2=9.8, P-value= 0.008. Regress...... Chi-square test: X2=9.8, P-value= 0.008. Regression model: OR= 2.7, 95% CI= 1.3-5.6, P-value= 0.006. More... | There was a significant association of PTSD with 5HT2A genot...... There was a significant association of PTSD with 5HT2A genotypes. The regression model revealed a significant association of the G allele with PTSD. More... | Significant |
SNP related genes (count: 3)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| HTR2A | 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled | 13q14-q21 | 4(2/2/0) |
| TRAF7 | TNF receptor associated factor 7 | 16p13.3 | rSNP target |
| SNHG19 | small nucleolar RNA host gene 19 | 16p13.3 | rSNP target |
SNPs in LD with rs6311 (count: 3)
Literature-origin SNPs (count: 0)
LD-proxies (count: 3)
SNP related eQTL (count: 1)