SNP Report

Basic Info

Name	rs1011313 dbSNP Ensembl
Location	6:15633201 - 15633201(+)
Variant Seq	C
Ancestral Allele	C
Ref Seq	T
Minor Allele Frequence	0.109026
Annotation	intron_variant; NMD_transcript_variant
Variant Effect	intron_variant(ENST00000338950, ENST00000355917, ENST00000513680, ENST00000515875, LRG_588t1, ENST00000510395, ENST00000511762, ENST00000622898, LRG_588t2, ENST00000506844, ENST00000344537); NMD_transcript_variant(ENST00000513680, ENST00000515875, ENST00000510395, ENST00000506844)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(LRG_588t2, ENST00000515875, ENST00000344537, ENST00000338950, LRG_588t1, ENST00000355917, ENST00000622898, ENST00000511762)
PolyPhen Annotation	probably_damaging
PolyPhen Variant Effect	probably_damaging(LRG_588t2, ENST00000515875, ENST00000344537, ENST00000338950, LRG_588t1, ENST00000355917, ENST00000622898, ENST00000511762)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	Chromatin interactive region
Chromatin State	Weak transcription;Strong 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 diagnosis	P-value=0.096 P-value=0.096	Achieved nominal levels of significance with PTSD diagnosis,...... Achieved nominal levels of significance with PTSD diagnosis, 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)
MYLIP	myosin regulatory light chain interacting protein	6p22.3	rSNP target
DTNBP1	dystrobrevin binding protein 1	6p22.3	5(2/3/0)

SNPs in LD with rs1011313 (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]
rs2619520	rs1011313	intron_variant; NMD_transcript_variant	0.8667[EUR]
rs4715987	rs1011313	intron_variant; NMD_transcript_variant	0.8369[EUR]
rs2619553	rs1011313	intron_variant; NMD_transcript_variant	0.8667[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
CRHR1	Yes	Adipose Subcutaneous	cis	GTEx