SNP Report
Basic Info
| Name | rs2284218 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:30674717 - 30674717(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | T | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.395767 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000506074, ENST00000341843, ENST00000452278, ENST00000348438, ENST00000471646); NMD_transcript_variant(ENST00000452278) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000506074, ENST00000471646, ENST00000341843, ENST00000348438) | ||
| PolyPhen Annotation | possibly_damaging; probably_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000348438); probably_damaging(ENST00000506074, ENST00000471646, ENST00000341843) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| No. of Marker's Association Results | 2 (Positive: 2; Negative: 0; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Wolf, E. J.,2013 | Latent PTSD Severity | Structural equation modeling: In women: unstandardized B= ...... Structural equation modeling: In women: unstandardized B= -2.89, P-value= 0.005. In men: unstandardized B= -0.95, P-value= 0.25 More... | The SNP showed a significant association with PTSD severity ...... The SNP showed a significant association with PTSD severity only in women. More... | Significant |
| Wolf, E. J.,2013 | PTSD diagnosis | OR=0.67, 95% CI: 0.52-0.88, P-value uncorrected=0.003, P-val...... OR=0.67, 95% CI: 0.52-0.88, P-value uncorrected=0.003, P-value corrected=0.05. In women: OR= 0.48, 95% CI: 0.31-0.75, P-value=0.001, corrected P-value= 0.02. 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. It showed a female-specific association with PTSD that withstood permutation 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 rs2284218 (count: 11)
Literature-origin SNPs (count: 1)
LD-proxies (count: 10)
SNP related eQTL (count: 1)