PTSDgene database

SNP Report

Basic Info
Name rs717947 dbSNP Ensembl
Location 4:33652135 - 33652135(+)
Variant Seq T
Ancestral Allele C
Ref Seq C
Minor Allele Frequence 0.205671
Annotation upstream_gene_variant
SIFT Annotation deleterious; tolerated
SIFT Variant Effect deleterious(ENST00000621961); tolerated(ENST00000511884)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000511884, ENST00000621961)
rSNP? No Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Inactive region
No. of Marker's Association Results 1 (Positive: 1; Negative: 0; 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
Almli, L. M.,2015 PTSD Symptoms as measured by the quantitave CAPS scores In (SBPBC cohort) discovery stage: (sex and top three princ...... In (SBPBC cohort) discovery stage: (sex and top three principal components as covariates) N=147, B (SE)=31.34 (5.19), P-value=1.28E-08; categorical PTSD diagnosis measure: OR=8.6, 95%CI=3.5-21.6, P-value=3.84E-06; self-reported PTSD symptoms: N=147, B (SE)=17.37 (3.10), P-value=1.203E-07. The main effect of rs717947 for CAPS scores after controlling for early childhood trauma exposure or overall negative life events: [Covariate: Early Trauma Inventory, N=146, B (SE)=31.5 (5.2), P-value=1.13E-08; Negative life events, N=146, B (SE)=24.9 (4.3), P-value=3.29E-08]. In (GTP cohort) replication stage: in female, N=2006, OR=1.25, CI=1.1-1.5, P-value=0.005; in male, N=862, P-value=0.37 More... The GWAS yielded one genome-wide significant SNP, rs717947 w...... The GWAS yielded one genome-wide significant SNP, rs717947 with current CAPS score. Sensitivity analysis covarying for self-reported race instead of the top three principal components showed similar results for the association between rs717947 and PTSD symptoms (data not shown). Follow-up analysis of SNP rs717947 showed that this SNP is robust to different measures of PTSD, both categorical and self-reported measures. In both cases, the main effect of rs717947 remained genome-wide significant for CAPS scores after controlling for early childhood trauma exposure or overall negative life events. In (GTP cohort) replication stage: in females, we found that carriers of the risk allele (T) had increased odds of PTSD diagnosis; in contrast, no association was found in males. More... Significant


SNP related genes (count: 0)

SNPs in LD with rs717947 (count: 48)
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: 1)

LD-proxies (count: 47)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
CRHR1-IT1 Yes Adipose Subcutaneous cis GTEx