PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

SNP Report

Basic Info

Name	rs242941 dbSNP Ensembl
Location	17:45815154 - 45815154(+)
Variant Seq	C
Ancestral Allele	C
Ref Seq	A
Minor Allele Frequence	0.322684
Annotation	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	upstream_gene_variant(ENST00000583888); intron_variant(ENST00000293493, ENST00000634540, ENST00000582766, ENST00000398285, ENST00000619154, ENST00000587305, ENST00000580955, ENST00000314537, ENST00000634876, ENST00000577353, ENST00000352855, ENST00000347197, ENST00000339069); NMD_transcript_variant(ENST00000580955, ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000587305, ENST00000634876)
SIFT Annotation	deleterious_-_low_confidence; deleterious; tolerated
SIFT Variant Effect	deleterious_-_low_confidence(ENST00000580955, ENST00000619154); deleterious(ENST00000352855, ENST00000347197); tolerated(ENST00000577353, ENST00000293493, ENST00000314537, ENST00000398285)
PolyPhen Annotation	unknown; benign; possibly_damaging; probably_damaging
PolyPhen Variant Effect	unknown(ENST00000619154); benign(ENST00000352855, ENST00000577353, ENST00000347197, ENST00000314537, ENST00000398285); possibly_damaging(ENST00000293493); probably_damaging(ENST00000580955)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	TF binding region
Chromatin State	Weak transcription;Enhancers;Bivalent Enhancer
No. of Marker's Association Results	2 (Positive: 0; Negative: 2; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 2)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Solovieff, N.,2014	PTSD diagnosis	P-value=0.084 P-value=0.084	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
Solovieff, N.,2014	PTSD severity	P-value=0.144 P-value=0.144	Achieved nominal levels of significance with PTSD severity, ...... Achieved nominal levels of significance with PTSD severity, 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)
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 rs242941 (count: 0)

SNP related eQTL (count: 1)

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