PTSDgene database

SNP Report

Basic Info
Name rs347300 dbSNP Ensembl
Location 1:162330033 - 162330033(+)
Variant Seq A
Ancestral Allele G
Ref Seq G
Minor Allele Frequence 0.445687
Annotation intron_variant; NMD_transcript_variant
Variant Effect intron_variant(ENST00000530878, ENST00000361897, ENST00000430120); NMD_transcript_variant(ENST00000430120)
SIFT Annotation deleterious; tolerated
SIFT Variant Effect deleterious(ENST00000530878, ENST00000361897); tolerated(ENST00000430120)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000430120, ENST00000530878, ENST00000361897)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Weak transcription;Enhancers;Bivalent Enhancer
No. of Marker's Association Results 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature

SNP related association results
Normal genetic study related association results (count: 2)
Reference Phenotype Statistical Values Author Comments Marker's Category
Bruenig, D.,2017(b) CAPS score ANOVA: P-value>0.05 ANOVA: P-value>0.05 This SNP was not associated with PTSD severity. This SNP was not associated with PTSD severity. Non-significant
Lawford, B. R.,2013 PTSD Allele frequencies: X2=0.409, P-value=0.523, OR=...... Allele frequencies: X2=0.409, P-value=0.523, OR=1.11, 95%CI(0.79-1.55). More... No significant signals was observed about this SNP. No significant signals was observed about this SNP. Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
NOS1AP nitric oxide synthase 1 adaptor protein 1q23.3 3(3/0/0)

SNPs in LD with rs347300 (count: 11)
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: 10)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
AC005154.8 No Adipose Subcutaneous cis GTEx