PTSDgene database

SNP Report

Basic Info
Name rs16944 dbSNP Ensembl
Location 2:112837290 - 112837290(+)
Variant Seq G
Ancestral Allele A
Ref Seq A
Minor Allele Frequence 0.490615
Annotation upstream_gene_variant
Variant Effect upstream_gene_variant(ENST00000432018, ENST00000491056, ENST00000263341, ENST00000477398, ENST00000416750, ENST00000623243, ENST00000487639, ENST00000418817, ENST00000496280)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000418817, ENST00000263341)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000418817, ENST00000263341)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Enhancers;Weak transcription;Flanking Active TSS;Bivalent Enhancer
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
Hovhannisyan, L.,2017 PTSD diagnosis A carriage: OR=0.44, P-value=0.0028, corrected P-value=0.014 A carriage: OR=0.44, P-value=0.0028, corrected P-value=0.014 IL1B rs16944 A minor allele frequency was also significantly...... IL1B rs16944 A minor allele frequency was also significantly lower in patients than in controls. The carriers of this allele were overrepresented in controls compared to patients. More... Significant

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
IL1B interleukin 1 beta 2q14 1(1/0/0)

SNPs in LD with rs16944 (count: 8)
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: 8)

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