PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

SNP Report

Basic Info

Name	rs242951 dbSNP Ensembl
Location	17:45832046 - 45832046(+)
Variant Seq	T
Ancestral Allele	C
Ref Seq	C
Minor Allele Frequence	0.382987
Annotation	downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000582766, ENST00000580955); upstream_gene_variant(ENST00000580876, ENST00000535778); intron_variant(ENST00000634540, ENST00000583888, ENST00000619154, ENST00000293493, ENST00000398285, ENST00000577353, ENST00000314537, ENST00000339069, ENST00000634876, ENST00000581479, ENST00000347197, ENST00000352855); NMD_transcript_variant(ENST00000583888, ENST00000347197); non_coding_transcript_variant(ENST00000634876, ENST00000581479)
SIFT Annotation	deleterious_-_low_confidence; tolerated_-_low_confidence; tolerated
SIFT Variant Effect	deleterious_-_low_confidence(ENST00000619154); tolerated_-_low_confidence(ENST00000347197); tolerated(ENST00000339069, ENST00000293493, ENST00000352855, ENST00000583888, ENST00000398285, ENST00000314537, ENST00000577353)
PolyPhen Annotation	unknown; benign; possibly_damaging
PolyPhen Variant Effect	unknown(ENST00000619154); benign(ENST00000339069, ENST00000293493, ENST00000352855, ENST00000398285, ENST00000314537, ENST00000577353); possibly_damaging(ENST00000347197, ENST00000583888)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	TF binding region;Chromatin interactive region
Chromatin State	Weak transcription;Enhancers
No. of Marker's Association Results	0 (Positive: 0; Negative: 0; Trend: 0)
Source	LD-proxy

SNP related association results

SNP related genes (count: 3)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	12(6/6/0)
CRHR1-IT1	CRHR1 intronic transcript 1	17q21.31	rSNP target
MAPT-AS1	MAPT antisense RNA 1	17q21.31	Mapped by Literature SNP, Mapped by LD-proxy, rSNP target

SNPs in LD with rs242951 (count: 0)

SNP related eQTL (count: 1)

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