SNP Report
Basic Info
| Name | rs693547 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 4:46254540 - 46254540(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | T | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.351837 | ||
| Annotation | intron_variant; NMD_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000356504, ENST00000513005, ENST00000510861, ENST00000381620, ENST00000507069, ENST00000510233, ENST00000514090, ENST00000540012, ENST00000630416); NMD_transcript_variant(ENST00000513005, ENST00000510233, ENST00000630416) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000514090, ENST00000507069, ENST00000540012, ENST00000510861, ENST00000356504, ENST00000381620) | ||
| PolyPhen Annotation | unknown; possibly_damaging | ||
| PolyPhen Variant Effect | unknown(ENST00000507069, ENST00000540012); possibly_damaging(ENST00000514090, ENST00000510861, ENST00000356504, ENST00000381620) | ||
| rSNP? | No Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Inactive region | ||
| 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 |
|---|---|---|---|---|
| Solovieff, N.,2014 | PTSD diagnosis | P-value=0.083 P-value=0.083 | 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 |
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| GABRA2 | gamma-aminobutyric acid (GABA) A receptor, alpha 2 | 4p12 | 3(1/2/0) |
SNPs in LD with rs693547 (count: 185)
Literature-origin SNPs (count: 0)
LD-proxies (count: 185)
SNP related eQTL (count: 1)