SNP Report

Basic Info

Name	rs2284220 dbSNP Ensembl
Location	7:30678487 - 30678487(+)
Variant Seq	A
Ancestral Allele	A
Ref Seq	G
Minor Allele Frequence	0.213458
Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000423776, ENST00000445981); intron_variant(ENST00000348438, ENST00000471646, ENST00000341843, ENST00000452278, ENST00000506074); NMD_transcript_variant(ENST00000452278)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000506074, ENST00000471646, ENST00000341843, ENST00000348438)
PolyPhen Annotation	probably_damaging; possibly_damaging
PolyPhen Variant Effect	probably_damaging(ENST00000348438); possibly_damaging(ENST00000506074, ENST00000471646, ENST00000341843)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;Bivalent Enhancer;Enhancers;ZNF genes & repeats
No. of Marker's Association Results	1 (Positive: 1; Negative: 0; 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
Wolf, E. J.,2013	PTSD diagnosis	OR=0.64, 95% CI: 0.44-0.93, P-value uncorrected=0.02, P-valu...... OR=0.64, 95% CI: 0.44-0.93, P-value uncorrected=0.02, P-value corrected=0.24 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. 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 rs2284220 (count: 6)

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	Literature-origin SNPs with LD	Annotation	r²[population]
rs6462219	rs2284220	intron_variant; NMD_transcript_variant	0.9337[EUR]
rs2267712	rs2284220	intron_variant; NMD_transcript_variant	0.9809[EUR]
rs1003929	rs2284220	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.9365[EUR]
rs2014663	rs2284220	intron_variant; NMD_transcript_variant	1.0000[EUR]
rs255101	rs2284220	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9716[EUR]
rs6965973	rs2284220	downstream_gene_variant; intron_variant; NMD_transcript_variant	1.0000[EUR]

SNP related eQTL (count: 1)

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