PTSDgene database

SNP Report

Basic Info
Name rs4430311 dbSNP Ensembl
Location 1:243852691 - 243852691(+)
Variant Seq T
Ancestral Allele T
Ref Seq C
Minor Allele Frequence 0.495407
Annotation upstream_gene_variant
Variant Effect upstream_gene_variant(ENST00000366539, ENST00000552631)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000263826, ENST00000366540, ENST00000336199, ENST00000552631, ENST00000366539)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Weak transcription;Enhancers
No. of Marker's Association Results 1 (Positive: 0; Negative: 0; Trend: 1)
Source Literature

SNP related association results
Normal genetic study related association results (count: 1)
Reference Phenotype Statistical Values Author Comments Marker's Category
Xie, P.,2013 Lifetime PTSD Trauma Exposed European Americans: in GWAS,P-value=5.11E-06,...... Trauma Exposed European Americans: in GWAS,P-value=5.11E-06,in replication,P-value=NT,in combined, P-value=NT. More... No significant signals was observed about this SNP. Genome-w...... No significant signals was observed about this SNP. Genome-wide association study analyses restricted to trauma-exposed individuals yielded very similar results. More... Trend

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
AKT3 v-akt murine thymoma viral oncogene homolog 3 1q44 1(0/0/1)

SNPs in LD with rs4430311 (count: 9)
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: 9)

SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
RP11-259G18.3 No Adipose Subcutaneous cis GTEx