PTSDgene database

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
Normal genetic study related association results (count: 1)
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)
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 1)

SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
CRHR1 Yes Adipose Subcutaneous cis GTEx