PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

SNP Report

Basic Info

Name	rs12942994 dbSNP Ensembl
Location	17:45797964 - 45797964(+)
Variant Seq	C
Ancestral Allele	T
Ref Seq	T
Minor Allele Frequence	0.130791
Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000634876); intron_variant(ENST00000634540, ENST00000352855, ENST00000339069, ENST00000587305, ENST00000577353, ENST00000619154, ENST00000582766, ENST00000293493, ENST00000347197, ENST00000314537, ENST00000398285); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000587305, ENST00000582766)
SIFT Annotation	tolerated_-_low_confidence; deleterious_-_low_confidence
SIFT Variant Effect	tolerated_-_low_confidence(ENST00000314537, ENST00000398285, ENST00000577353, ENST00000293493); deleterious_-_low_confidence(ENST00000619154, ENST00000347197, ENST00000352855)
PolyPhen Annotation	unknown; benign; possibly_damaging
PolyPhen Variant Effect	unknown(ENST00000619154); benign(ENST00000347197, ENST00000398285, ENST00000352855, ENST00000577353, ENST00000293493); possibly_damaging(ENST00000314537)
rSNP?	Yes Link in rVarBase
Related Regulatory Elements	n/a
Chromatin State	Weak transcription;ZNF genes & repeats
No. of Marker's Association Results	0 (Positive: 0; Negative: 0; Trend: 0)
Source	LD-proxy

SNP related association results

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 rs12942994 (count: 0)

SNP related eQTL (count: 1)

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