PTSDgene database

SNP Report

Basic Info
Name rs12122048 dbSNP Ensembl
Location 1:162361618 - 162361618(+)
Variant Seq A
Ancestral Allele A
Ref Seq G
Minor Allele Frequence 0.314497
Annotation upstream_gene_variant; intron_variant; NMD_transcript_variant
Variant Effect upstream_gene_variant(ENST00000431696, ENST00000493151); intron_variant(ENST00000430120, ENST00000530878, ENST00000464284, ENST00000361897); NMD_transcript_variant(ENST00000430120)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000530878, ENST00000430120, ENST00000361897)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000530878, ENST00000430120, ENST00000361897)
rSNP? Yes Link in rVarBase
Related Regulatory Elements TF binding region
Chromatin State Weak transcription;Strong transcription;Enhancers;Flanking Active TSS
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
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


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 rs12122048 (count: 6)
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: 6)


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