SNP Report

Basic Info

Name	rs4648319 dbSNP Ensembl
Location	11:113443641 - 113443641(+)
Variant Seq	A
Ancestral Allele	A
Ref Seq	G
Minor Allele Frequence	0.208067
Annotation	intron_variant; non_coding_transcript_variant
Variant Effect	intron_variant(ENST00000542616, ENST00000543292, ENST00000346454, ENST00000540600, ENST00000362072); 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	Chromatin interactive region
Chromatin State	Weak transcription;Enhancers
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
Duan, Z.,2015	PTSD diagnosis	Allele dose analysis model: P-value=0.67; Dominant effect: ...... Allele dose analysis model: P-value=0.67; Dominant effect: P-value=0.94; Recessive effect: P-value=0.45. More...	No significant results. No significant results.	Non-significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
DRD2	dopamine receptor D2	11q23.2	18(11/7/0)

SNPs in LD with rs4648319 (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]
rs7350522	rs4648319	intron_variant; non_coding_transcript_variant	0.8678[ASN]
rs11214607	rs4648319	intron_variant; non_coding_transcript_variant	0.9615[ASN]
rs7103679	rs4648319	intron_variant; non_coding_transcript_variant	0.8326[ASN]
rs2471851	rs4648319	intron_variant; non_coding_transcript_variant	0.8326[ASN]

SNP related eQTL (count: 1)

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