PTSDgene database

SNP Report

Basic Info
Name rs12944712 dbSNP Ensembl
Location 17:45793781 - 45793781(+)
Variant Seq A
Ancestral Allele G
Ref Seq G
Minor Allele Frequence 0.271765
Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect intron_variant(ENST00000352855, ENST00000347197, ENST00000577353, ENST00000634540, ENST00000619154, ENST00000398285, ENST00000587305, ENST00000314537, ENST00000339069, ENST00000582766, ENST00000293493); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766)
SIFT Annotation tolerated_-_low_confidence; deleterious_-_low_confidence
SIFT Variant Effect tolerated_-_low_confidence(ENST00000314537, ENST00000398285, ENST00000577353, ENST00000293493); deleterious_-_low_confidence(ENST00000619154, ENST00000347197, ENST00000352855)
PolyPhen Annotation unknown; benign; possibly_damaging
PolyPhen Variant Effect unknown(ENST00000619154); benign(ENST00000347197, ENST00000398285, ENST00000352855, ENST00000577353, ENST00000293493); possibly_damaging(ENST00000314537)
rSNP? Yes Link in rVarBase
Related Regulatory Elements Chromatin interactive region
Chromatin State Enhancers;Weak transcription;Bivalent Enhancer
No. of Marker's Association Results 5 (Positive: 3; Negative: 2; 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
Amstadter, A. B.,2011 Acute symptoms of PTSD Latent growth analyses, z-statistic=3.35, P-value<0.001. Latent growth analyses, z-statistic=3.35, P-value<0.001. Having an increasing number of G alleles was significantly a...... Having an increasing number of G alleles was significantly associated with more acute symptoms of PTSD. More... Significant
Amstadter, A. B.,2011 Acute UCLA PTSD-RI score B=-5.36, t=-2.94, Empirical P-value=0.005 B=-5.36, t=-2.94, Empirical P-value=0.005 This SNP was significantly related to PTSD symptom frequency...... This SNP was significantly related to PTSD symptom frequency. With Bonferroni correction, one of the eight SNPs (rs12944712) remained significantly associated with PTSD symptom frequency. More... Significant
Amstadter, A. B.,2011 Decline in PTSD symptoms Latent growth analyses, z-statistic=-3.74, P-value<0.001. Latent growth analyses, z-statistic=-3.74, P-value<0.001. An increasing number of G alleles was associated with a sign...... An increasing number of G alleles was associated with a significantly greater decline in PTSD symptoms over time. More... Significant
Dunn, E. C.,2014 Post Traumatic Growth (PTG) T4: joint test P-value> 0.05, variant P-value> 0.05. T4: joint test P-value> 0.05, variant P-value> 0.05. We did not find any significant associations between the gen...... We did not find any significant associations between the genetic variants and PTG (P-values > 0.05). More... Non-significant
Dunn, E. C.,2014 Post-traumatic stress symptoms (PTS) T4: joint test P-value> 0.05, variant P-value> 0.05. T4: joint test P-value> 0.05, variant P-value> 0.05. We did not find any significant associations between the gen...... We did not find any significant associations between the genetic variants and PTS (P-values > 0.05). More... Non-significant
G*E study related association result (count: 2)
Reference Phenotype Environment Statistical Values Author Comments Marker's Category
Dunn, E. C.,2014 Post Traumatic Growth (PTG) Hurricane exposure T4: joint test P-value> 0.05, GxE interaction P-value> 0.05. T4: joint test P-value> 0.05, GxE interaction P-value> 0.05. We did not find any significant associations between the gen...... We did not find any significant associations between the genetic variants and PTG (P-values > 0.05). More... Non-significant
Dunn, E. C.,2014 Post-traumatic stress symptoms (PTS) Hurricane exposure Genetic variants and T3 or T4 PTS interaction: all P-values ...... Genetic variants and T3 or T4 PTS interaction: all P-values > 0.05. More... We did not find any significant associations between the gen...... We did not find any significant associations between the genetic variants and T3 or T4 PTS (all P-values > 0.05). More... Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
CRHR1 corticotropin releasing hormone receptor 1 17q21.31 12(6/6/0)

SNPs in LD with rs12944712 (count: 4)
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: 4)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
DND1P1 No Adipose Subcutaneous cis GTEx