SNP Report
Basic Info
| Name | rs2284216 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:30672345 - 30672345(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.167532 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000452278, ENST00000471646, ENST00000348438, ENST00000341843, ENST00000506074); NMD_transcript_variant(ENST00000452278) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000471646, ENST00000348438, ENST00000341843, ENST00000506074) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000471646, ENST00000348438, ENST00000341843, ENST00000506074) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| 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 |
|---|---|---|---|---|
| Wolf, E. J.,2013 | PTSD diagnosis | OR=0.54, 95% CI: 0.34-0.85, P-value uncorrected=0.007, P-val...... OR=0.54, 95% CI: 0.34-0.85, P-value uncorrected=0.007, P-value corrected=0.11 More... | It showed nominally significant associations with lifetime P...... It showed nominally significant associations with lifetime PTSD diagnosis, but didn't pass the multiple testing. More... | Significant |
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| CRHR2 | corticotropin releasing hormone receptor 2 | 7p14.3 | 2(2/0/0) |
SNPs in LD with rs2284216 (count: 0)
SNP related eQTL (count: 1)