PTSDgene database

SNP Report

Basic Info
Name rs693547 dbSNP Ensembl
Location 4:46254540 - 46254540(+)
Variant Seq T
Ancestral Allele T
Ref Seq A
Minor Allele Frequence 0.351837
Annotation intron_variant; NMD_transcript_variant
Variant Effect intron_variant(ENST00000356504, ENST00000513005, ENST00000510861, ENST00000381620, ENST00000507069, ENST00000510233, ENST00000514090, ENST00000540012, ENST00000630416); NMD_transcript_variant(ENST00000513005, ENST00000510233, ENST00000630416)
SIFT Annotation deleterious
SIFT Variant Effect deleterious(ENST00000514090, ENST00000507069, ENST00000540012, ENST00000510861, ENST00000356504, ENST00000381620)
PolyPhen Annotation unknown; possibly_damaging
PolyPhen Variant Effect unknown(ENST00000507069, ENST00000540012); possibly_damaging(ENST00000514090, ENST00000510861, ENST00000356504, ENST00000381620)
rSNP? No Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Inactive region
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
Solovieff, N.,2014 PTSD diagnosis P-value=0.083 P-value=0.083 Achieved nominal levels of significance with PTSD diagnosis,...... Achieved nominal levels of significance with PTSD diagnosis, although was not significant after correction for multiple testing More... Non-significant

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 4p12 3(1/2/0)

SNPs in LD with rs693547 (count: 185)
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: 185)

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