SNP Report

Basic Info

Name	rs4274224 dbSNP Ensembl
Location	11:113448730 - 113448730(+)
Variant Seq	A
Ancestral Allele	A
Ref Seq	G
Minor Allele Frequence	0.448482
Annotation	downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000577203); upstream_gene_variant(ENST00000543292); intron_variant(ENST00000346454, ENST00000362072, ENST00000542616, ENST00000540600); non_coding_transcript_variant(ENST00000540600)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000362072, ENST00000543292, ENST00000538967, ENST00000544518, ENST00000542968, ENST00000346454)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000362072, ENST00000543292, ENST00000538967, ENST00000544518, ENST00000542968, ENST00000346454)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Enhancers;Weak transcription
No. of Marker's Association Results	1 (Positive: 0; Negative: 1; 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
Solovieff, N.,2014	PTSD severity	P-value=0.237 P-value=0.237	Achieved nominal levels of significance with PTSD severity, ...... Achieved nominal levels of significance with PTSD severity, although was not significant after correction for multiple testing More...	Non-significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
MIR4301	microRNA 4301	11	Mapped by Literature SNP, Mapped by LD-proxy
DRD2	dopamine receptor D2	11q23.2	18(11/7/0)

SNPs in LD with rs4274224 (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.

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs4245147	rs4274224 rs4460839	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9840[EUR]
rs4936271	rs4274224 rs4460839	downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0000[EUR]
rs4936272	rs4274224 rs4460839	downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0000[EUR]
rs4245146	rs4274224 rs4460839	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9840[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
TMPRSS5	No	Adipose Subcutaneous	cis	GTEx