SNP Report

Basic Info

Name	rs1611115 dbSNP Ensembl
Location	9:133635393 - 133635393(+)
Variant Seq	C
Ancestral Allele	C
Ref Seq	T
Minor Allele Frequence	0.21266
Annotation	upstream_gene_variant
Variant Effect	upstream_gene_variant(ENST00000393056, ENST00000564021, ENST00000263611)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000393056, ENST00000263611)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000393056, ENST00000263611)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	TF binding region
Chromatin State	Weak transcription;Enhancers;Bivalent Enhancer
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
Mustapic, M.,2007	Chronic PTSD	Genotype frequencies: X²=2.30; df=2; P-value=0.3...... Genotype frequencies: X²=2.30; df=2; P-value=0.32; allele frequencies: X²=2.01; df=1; P-value=0.156. More...	rs1611115, DBH genotype and allele frequencies were similarl...... rs1611115, DBH genotype and allele frequencies were similarly distributed between the two groups of war veterans. More...	Non-significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
DBH	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	9q34	4(0/4/0)

SNPs in LD with rs1611115 (count: 1)

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]
rs2519143	rs1611115	upstream_gene_variant; intron_variant	0.8655[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
RP11-707O23.5	No	Adipose Subcutaneous	cis	GTEx