PTSDgene database

SNP Report

Basic Info
Name rs324420 dbSNP Ensembl
Location 1:46405089 - 46405089(+)
Variant Seq A
Ancestral Allele C
Ref Seq C
Minor Allele Frequence 0.261581
Annotation missense_variant; non_coding_transcript_exon_variant; upstream_gene_variant; non_coding_transcript_variant
Variant Effect missense_variant(ENST00000243167); non_coding_transcript_exon_variant(ENST00000493735, ENST00000468718); upstream_gene_variant(ENST00000484697, ENST00000493636, ENST00000489366); non_coding_transcript_variant(ENST00000493735, ENST00000468718)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000243167)
PolyPhen Annotation probably_damaging
PolyPhen Variant Effect probably_damaging(ENST00000243167)
rSNP? Yes Link in rVarBase
Related Regulatory Elements TF binding region
Chromatin State Weak transcription;Enhancers;Strong transcription;Genic enhancers
No. of Marker's Association Results 5 (Positive: 1; Negative: 4; Trend: 0)
Source Literature

SNP related association results
Normal genetic study related association results (count: 5)
Reference Phenotype Statistical Values Author Comments Marker's Category
Spagnolo, P. A.,2016 PTSD symptoms F(1, 42)=1.18, P-value=0.29 F(1, 42)=1.18, P-value=0.29 There was no main effect of genotype to PTSD total symptom. There was no main effect of genotype to PTSD total symptom. Non-significant
Spagnolo, P. A.,2016 PTSD hyperarousal symptoms F(1, 47)=6.04, P-value=0.02 F(1, 47)=6.04, P-value=0.02 There was a main effect of genotype on hyperarousal, such th...... There was a main effect of genotype on hyperarousal, such that subjects carrying the low-expressing C385A variant exhibited decreased arousal compared to C homozygotes. More... Significant
Spagnolo, P. A.,2016 PTSD re-experiencing symptoms F(1, 52)=0.06, P-value=0.80 F(1, 52)=0.06, P-value=0.80 There was no main effect of genotype to PTSD re-experiencing...... There was no main effect of genotype to PTSD re-experiencing symptom. More... Non-significant
Spagnolo, P. A.,2016 PTSD avoidance symptoms F(1, 46)=2.91, P-value=0.09 F(1, 46)=2.91, P-value=0.09 There was no main effect of genotype to PTSD avoidance sympt...... There was no main effect of genotype to PTSD avoidance symptom. More... Non-significant
Pardini, M.,2012 PTSD C/- compared with T/T: In TPBI subjects without vmPFC lesi...... C/- compared with T/T: In TPBI subjects without vmPFC lesions: P-value= 0.40. In the vmPFC lesion group: P-value= 0.51. More... No significant difference in PTSD prevalence between genotyp...... No significant difference in PTSD prevalence between genotypes in both subjects. More... Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
FAAH fatty acid amide hydrolase 1p35-p34 8(3/5/0)

SNPs in LD with rs324420 (count: 10)
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: 10)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
CRHR1 Yes Adipose Subcutaneous cis GTEx