PTSDgene database

SNP Report

Basic Info
Name rs1143633 dbSNP Ensembl
Location 2:112832890 - 112832890(+)
Variant Seq T
Ancestral Allele C
Ref Seq C
Minor Allele Frequence 0.310903
Annotation downstream_gene_variant; intron_variant; non_coding_transcript_variant
Variant Effect downstream_gene_variant(ENST00000477398, ENST00000496280); intron_variant(ENST00000487639, ENST00000263341, ENST00000418817, ENST00000491056, ENST00000416750, ENST00000432018); non_coding_transcript_variant(ENST00000487639, ENST00000491056)
SIFT Annotation deleterious
SIFT Variant Effect deleterious(ENST00000418817, ENST00000263341, ENST00000416750, ENST00000432018)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000418817, ENST00000263341, ENST00000416750, ENST00000432018)
rSNP? Yes Link in rVarBase
Related Regulatory Elements Chromatin interactive region
Chromatin State Weak transcription;Genic enhancers;Transcr. at gene 5' nd 3';Enhancers;Strong transcription
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 C carriage: OR=0.40, P-value=0.0002, corrected P-value=0.001 C carriage: OR=0.40, P-value=0.0002, corrected P-value=0.001 IL1B rs1143633 C minor allele frequency was significantly lo...... IL1B rs1143633 C minor allele frequency was significantly lower in PTSD patients than in controls. The carriers of this allele were underrepresented in patients compared to controls. More... Significant

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
IL1A interleukin 1 alpha 2q14 rSNP target
IL1B interleukin 1 beta 2q14 1(1/0/0)

SNPs in LD with rs1143633 (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: 1)

LD-proxies (count: 2)

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