SNP Report
Basic Info
| Name | rs324419 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:46406314 - 46406314(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | C | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.115615 | ||
| Annotation | downstream_gene_variant; synonymous_variant; non_coding_transcript_exon_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000468718); synonymous_variant(ENST00000243167); non_coding_transcript_exon_variant(ENST00000489366, ENST00000493735); upstream_gene_variant(ENST00000493636); intron_variant(ENST00000484697); NMD_transcript_variant(ENST00000484697); non_coding_transcript_variant(ENST00000489366, ENST00000493735) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000243167) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000243167) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region;Chromatin interactive region | ||
| Chromatin State | Enhancers;Weak transcription;Genic enhancers;Flanking Active TSS;Bivalent Enhancer;Flanking Bivalent TSS/Enh;Transcr. at gene 5' nd 3';Strong transcription;Active TSS | ||
| 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 |
|---|---|---|---|---|
| Pardini, M.,2012 | PTSD | C/- compared with T/T: In TPBI subjects without vmPFC lesi...... C/- compared with T/T: In TPBI subjects without vmPFC lesions: P-value= 0.64. In the vmPFC lesion group: P-value= 0.21. More... | No significant difference in PTSD prevalence between genotyp...... No significant difference in PTSD prevalence between genotypes in both subjects. More... | Non-significant |
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| FAAH | fatty acid amide hydrolase | 1p35-p34 | 8(3/5/0) |
| EFCAB14 | EF-hand calcium binding domain 14 | 1p33 | rSNP target |
SNPs in LD with rs324419 (count: 1)
Literature-origin SNPs (count: 0)
LD-proxies (count: 1)
SNP related eQTL (count: 1)