PTSDgene database

SNP Report

Basic Info
Name rs2242591 dbSNP Ensembl
Location 11:113409199 - 113409199(+)
Variant Seq T
Ancestral Allele C
Ref Seq C
Minor Allele Frequence 0.203874
Annotation downstream_gene_variant; intron_variant; non_coding_transcript_variant
Variant Effect downstream_gene_variant(ENST00000540600, ENST00000544518, ENST00000346454, ENST00000362072, ENST00000542968, ENST00000538967); intron_variant(ENST00000546284); non_coding_transcript_variant(ENST00000546284)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000346454, ENST00000542968, ENST00000362072, ENST00000538967, ENST00000544518)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000346454, ENST00000542968, ENST00000362072, ENST00000538967, ENST00000544518)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Weak transcription;Enhancers
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
Duan, Z.,2015 PTSD diagnosis Allele dose analysis model: P-value=0.32; Dominant effect: ...... Allele dose analysis model: P-value=0.32; Dominant effect: P-value=0.27; Recessive effect: P-value=0.23. More... No significant results. No significant results. Non-significant

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
DRD2 dopamine receptor D2 11q23.2 18(11/7/0)

SNPs in LD with rs2242591 (count: 31)
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: 30)

SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
LRRC37A4P No Adipose Subcutaneous cis GTEx