SNP Report

Basic Info

Name	rs12936181 dbSNP Ensembl
Location	17:45799113 - 45799113(+)
Variant Seq	C
Ancestral Allele	T
Ref Seq	T
Minor Allele Frequence	0.130591
Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000634876); intron_variant(ENST00000352855, ENST00000339069, ENST00000634540, ENST00000619154, ENST00000347197, ENST00000293493, ENST00000577353, ENST00000587305, ENST00000314537, ENST00000398285, ENST00000582766); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766)
SIFT Annotation	deleterious; tolerated
SIFT Variant Effect	deleterious(ENST00000430334); tolerated(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780)
PolyPhen Annotation	benign; possibly_damaging
PolyPhen Variant Effect	benign(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780); possibly_damaging(ENST00000430334, ENST00000584420)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
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
Amstadter, A. B.,2011	Acute UCLA PTSD-RI score	B=2.07, t=0.99, Empirical P-value=0.42 B=2.07, t=0.99, Empirical P-value=0.42	No significant result. No significant result.	Non-significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	12(6/6/0)
MAPT-AS1	MAPT antisense RNA 1	17q21.31	Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

SNPs in LD with rs12936181 (count: 14)

The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r²<=0.8.

Literature-origin SNPs (count: 1)

rs_ID	Annotation	No. of Association Results(Positive/Negative/Trend)	r²[population]

rs4792887	non_coding_transcript_exon_variant(ENST00000634876); intron_variant(ENST00000634540, ENST00000577353, ENST00000398285, ENST00000293493, ENST00000347197, ENST00000587305, ENST00000339069, ENST00000582766, ENST00000352855, ENST00000314537, ENST00000619154); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000634876, ENST00000582766)	2(1/1/0)	1.0000[EUR]

LD-proxies (count: 13)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs35131568	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9461[EUR]
rs4792886	rs12936181 rs4792887	non_coding_transcript_exon_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs4792884	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs16940646	rs12936181 rs4792887	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs4792883	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs4792888	rs12936181 rs4792887	non_coding_transcript_exon_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs16969853	rs12936181 rs4792887	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs35785975	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs34174655	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.8546[EUR]
rs12944996	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]
rs4792885	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.8705[EUR]
rs12942994	rs12936181 rs4792887	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9461[EUR]
rs12945673	rs12936181 rs4792887	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0000[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
DND1P1	No	Adipose Subcutaneous	cis	GTEx