PTSDgene database

SNP Report

Basic Info
Name rs6311 dbSNP Ensembl
Location 13:46897343 - 46897343(+)
Variant Seq T
Ancestral Allele C
Ref Seq C
Minor Allele Frequence 0.44349
Annotation upstream_gene_variant
Variant Effect upstream_gene_variant(ENST00000378688, ENST00000542664, ENST00000612998, ENST00000543956)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000542664, ENST00000543956, ENST00000378688)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000542664, ENST00000543956, ENST00000378688)
rSNP? Yes Link in rVarBase
Related Regulatory Elements Chromatin interactive region
Chromatin State Weak transcription;Enhancers;Active TSS;Flanking Active TSS;Bivalent Enhancer;Bivalent/Poised TSS
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
Mellman, T. A.,2009 PTSD Chi-square test: X2=9.8, P-value= 0.008. Regress...... Chi-square test: X2=9.8, P-value= 0.008. Regression model: OR= 2.7, 95% CI= 1.3-5.6, P-value= 0.006. More... There was a significant association of PTSD with 5HT2A genot...... There was a significant association of PTSD with 5HT2A genotypes. The regression model revealed a significant association of the G allele with PTSD. More... Significant

SNP related genes (count: 3)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 13q14-q21 4(2/2/0)
TRAF7 TNF receptor associated factor 7 16p13.3 rSNP target
SNHG19 small nucleolar RNA host gene 19 16p13.3 rSNP target

SNPs in LD with rs6311 (count: 3)
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: 3)

SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
RP11-707O23.5 No Adipose Subcutaneous cis GTEx