SNP Report

Basic Info

Name	rs450378 dbSNP Ensembl
Location	7:51941038 - 51941038(+)
Variant Seq	T
Ancestral Allele	C
Ref Seq	C
Minor Allele Frequence	0.119209
Annotation	downstream_gene_variant
SIFT Annotation	deleterious_-_low_confidence; tolerated
SIFT Variant Effect	deleterious_-_low_confidence(ENST00000395540); tolerated(ENST00000632460, ENST00000265136, ENST00000441453, ENST00000395542)
PolyPhen Annotation	benign; possibly_damaging
PolyPhen Variant Effect	benign(ENST00000441453); possibly_damaging(ENST00000632460, ENST00000395540, ENST00000265136, ENST00000395542)
rSNP?	No Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Inactive region
No. of Marker's Association Results	2 (Positive: 0; Negative: 1; Trend: 1)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 2)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Xie, P.,2013	Lifetime PTSD	Whole Cohort of European Americans: in GWAS,P-value=1.19E-0...... Whole Cohort of European Americans: in GWAS,P-value=1.19E-06,in replication,P-value=0.25,in combined, P-value=2.03E-04;Trauma Exposed European Americans: in GWAS,P-value=4.89E-06,in replication,P-value=0.41,in combined, P-value=5.59E-04. More...	No significant signals was observed about this SNP. Genome-w...... No significant signals was observed about this SNP. Genome-wide association study analyses restricted to trauma-exposed individuals yielded very similar results. More...	Trend
Almli, L. M.,2014	PTSD symptoms (mPSS)	Linear regression, main effect P-value=0.97 Linear regression, main effect P-value=0.97	They did not replicate as main effects in associations with ...... They did not replicate as main effects in associations with PTSD symptoms in this study. More...	Non-significant

G*E study related association result (count: 1)

Reference	Phenotype	Environment	Statistical Values	Author Comments	Marker's Category
Almli, L. M.,2014	PTSD symptoms (mPSS)	Childhood trauma	Linear regression, GxE P-value(standard regression model)=0....... Linear regression, GxE P-value(standard regression model)=0.008, GxE P-value(adjusted with robust standard errors with R package geepack)=0.02. More...	We found a significant genotype and environment interaction ...... We found a significant genotype and environment interaction (G x E) with childhood trauma in our AA population. More...	Significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
COBL	cordon-bleu WH2 repeat protein	7p12.2-p12.1	2(1/1/0)

SNPs in LD with rs450378 (count: 39)

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: 39)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs372100	rs450378	downstream_gene_variant	0.9147[AFR]
rs608907	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs393485	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs411776	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs424560	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs369972	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs2329864	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs412747	rs450378	downstream_gene_variant	0.8833[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs394472	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs413803	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs369846	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs411197	rs450378	downstream_gene_variant	0.9147[AFR]
rs395413	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs2329862	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs437881	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs446514	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs654963	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9202[AFR]; 1.0000[AMR]
rs450297	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs620345	rs450378	downstream_gene_variant	0.8833[EUR]; 0.9554[AFR]; 0.9299[AMR]
rs385010	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs10480947	rs450378	downstream_gene_variant	0.8833[EUR]; 0.9638[AMR]
rs406355	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs417449	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs374449	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9731[AFR]; 1.0000[AMR]
rs673605	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs10480949	rs450378	downstream_gene_variant	0.9213[AFR]; 0.9638[AMR]
rs430751	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9642[AFR]; 0.9638[AMR]
rs411408	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9731[AFR]; 1.0000[AMR]
rs666707	rs450378	downstream_gene_variant	0.8353[AFR]; 0.8981[AMR]
rs633058	rs450378	downstream_gene_variant	0.8329[EUR]; 0.9049[AFR]; 0.9638[AMR]
rs652935	rs450378	downstream_gene_variant	0.8329[EUR]; 0.9554[AFR]; 0.8981[AMR]
rs394131	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs667950	rs450378	downstream_gene_variant	0.8401[AMR]
rs393475	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs372881	rs450378	downstream_gene_variant	0.8923[EUR]; 0.9820[AFR]; 0.9638[AMR]
rs371154	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs443496	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9297[AFR]; 0.9638[AMR]
rs393940	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]
rs610659	rs450378	downstream_gene_variant	1.0000[EUR]; 0.9820[AFR]; 1.0000[AMR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
LRRC37A4P	No	Adipose Subcutaneous	cis	GTEx