SNP Report

Basic Info

Name	rs4436578 dbSNP Ensembl
Location	11:113436043 - 113436043(+)
Variant Seq	T
Ancestral Allele	C
Ref Seq	C
Minor Allele Frequence	0.353834
Annotation	intron_variant; non_coding_transcript_variant
Variant Effect	intron_variant(ENST00000346454, ENST00000542616, ENST00000543292, ENST00000362072, ENST00000540600); non_coding_transcript_variant(ENST00000540600)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000538967, ENST00000544518, ENST00000346454, ENST00000543292, ENST00000542968, ENST00000362072)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000538967, ENST00000544518, ENST00000346454, ENST00000543292, ENST00000542968, ENST00000362072)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;Flanking Active TSS;Enhancers
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
Duan, Z.,2015	PTSD diagnosis	Allele dose analysis model: P-value=0.07; Dominant effect: ...... Allele dose analysis model: P-value=0.07; Dominant effect: P-value=0.02; Recessive effect: P-value=0.48. More...	Also when the dominant effect was measured, compared with rs...... Also when the dominant effect was measured, compared with rs4436578 TT genotypes, the combined genotypes rs4436578 CC/CT had a significantly increased PTSD risk. More...	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 rs4436578 (count: 3)

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]
rs7125415	rs4436578 rs2075652	intron_variant; non_coding_transcript_variant	0.9059[ASN]
rs4620755	rs1124492 rs4436578	intron_variant; non_coding_transcript_variant	0.9722[ASN]
rs17115583	rs1124492 rs4436578	intron_variant; non_coding_transcript_variant	0.9722[ASN]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
SKA2	Yes	Adipose Subcutaneous	cis	GTEx