SNP Report

Basic Info

Name	rs2284218 dbSNP Ensembl
Location	7:30674717 - 30674717(+)
Variant Seq	T
Ancestral Allele	T
Ref Seq	C
Minor Allele Frequence	0.395767
Annotation	intron_variant; NMD_transcript_variant
Variant Effect	intron_variant(ENST00000506074, ENST00000341843, ENST00000452278, ENST00000348438, ENST00000471646); NMD_transcript_variant(ENST00000452278)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000506074, ENST00000471646, ENST00000341843, ENST00000348438)
PolyPhen Annotation	possibly_damaging; probably_damaging
PolyPhen Variant Effect	possibly_damaging(ENST00000348438); probably_damaging(ENST00000506074, ENST00000471646, ENST00000341843)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;Enhancers
No. of Marker's Association Results	2 (Positive: 2; Negative: 0; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 2)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Wolf, E. J.,2013	Latent PTSD Severity	Structural equation modeling: In women: unstandardized B= ...... Structural equation modeling: In women: unstandardized B= -2.89, P-value= 0.005. In men: unstandardized B= -0.95, P-value= 0.25 More...	The SNP showed a significant association with PTSD severity ...... The SNP showed a significant association with PTSD severity only in women. More...	Significant
Wolf, E. J.,2013	PTSD diagnosis	OR=0.67, 95% CI: 0.52-0.88, P-value uncorrected=0.003, P-val...... OR=0.67, 95% CI: 0.52-0.88, P-value uncorrected=0.003, P-value corrected=0.05. In women: OR= 0.48, 95% CI: 0.31-0.75, P-value=0.001, corrected P-value= 0.02. More...	It showed nominally significant associations with lifetime P...... It showed nominally significant associations with lifetime PTSD diagnosis, but didn't pass the multiple testing. It showed a female-specific association with PTSD that withstood permutation testing. More...	Significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CRHR2	corticotropin releasing hormone receptor 2	7p14.3	2(2/0/0)

SNPs in LD with rs2284218 (count: 11)

The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Annotation	No. of Association Results(Positive/Negative/Trend)	r²[population]

rs2267715	intron_variant(ENST00000471646, ENST00000452278, ENST00000348438, ENST00000341843, ENST00000506074); NMD_transcript_variant(ENST00000452278)	2(2/0/0)	0.9889[EUR]

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs255100	rs2284218 rs2267715	intron_variant; splice_region_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9242[EUR]
rs255098	rs2284218 rs2267715	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9346[EUR]
rs2284219	rs2284218 rs2267715	intron_variant; NMD_transcript_variant	1.0000[EUR]
rs1076292	rs2284218 rs2267715	intron_variant; NMD_transcript_variant	0.9032[EUR]
rs255097	rs2284218 rs2267715	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9399[EUR]
rs12533248	rs2284218 rs2267715	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.9889[EUR]
rs1076294	rs2284218 rs2267715	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.9404[EUR]
rs733453	rs2284218 rs2267715	intron_variant; NMD_transcript_variant	0.9944[EUR]
rs255099	rs2284218 rs2267715	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9349[EUR]
rs1076291	rs2284218 rs2267715	intron_variant; NMD_transcript_variant	0.9032[EUR]

SNP related eQTL (count: 1)

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