PTSDgene database

SNP Report

Basic Info
Name rs474523 dbSNP Ensembl
Location 12:117328005 - 117328005(+)
Variant Seq C
Ancestral Allele C
Ref Seq T
Minor Allele Frequence 0.208267
Annotation downstream_gene_variant; intron_variant
Variant Effect downstream_gene_variant(ENST00000549189); intron_variant(ENST00000338101, ENST00000317775, ENST00000344089, ENST00000618760)
SIFT Annotation deleterious_-_low_confidence
SIFT Variant Effect deleterious_-_low_confidence(ENST00000344089, ENST00000317775, ENST00000618760, ENST00000338101)
PolyPhen Annotation benign; possibly_damaging
PolyPhen Variant Effect benign(ENST00000317775); possibly_damaging(ENST00000344089, ENST00000618760, ENST00000338101)
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
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)
NOS1 nitric oxide synthase 1 12q24.22 1(1/0/0)

SNPs in LD with rs474523 (count: 14)
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: 14)


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