PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

SNP Report

Basic Info

Name	rs12950522 dbSNP Ensembl
Location	17:45781740 - 45781740(+)
Variant Seq	C
Ancestral Allele	A
Ref Seq	A
Minor Allele Frequence	0.42492
Annotation	upstream_gene_variant; intron_variant; non_coding_transcript_variant
Variant Effect	upstream_gene_variant(ENST00000339069, ENST00000352855, ENST00000619154, ENST00000293493, ENST00000314537, ENST00000347197, ENST00000577353, ENST00000398285, ENST00000582766); intron_variant(ENST00000587305, ENST00000634540); non_coding_transcript_variant(ENST00000587305)
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	Enhancers;Bivalent Enhancer;Weak transcription
No. of Marker's Association Results	0 (Positive: 0; Negative: 0; Trend: 0)
Source	LD-proxy

SNP related association results

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	12(6/6/0)

SNPs in LD with rs12950522 (count: 0)

SNP related eQTL (count: 1)

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