SNP Report

Basic Info

Name	rs4633 dbSNP Ensembl
Location	22:19962712 - 19962712(+)
Variant Seq	T
Ancestral Allele	C
Ref Seq	C
Minor Allele Frequence	0.371605
Annotation	synonymous_variant; non_coding_transcript_exon_variant; upstream_gene_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	synonymous_variant(ENST00000449653, ENST00000361682, ENST00000403710, ENST00000406520, ENST00000407537, ENST00000403184, ENST00000412786, ENST00000207636); non_coding_transcript_exon_variant(ENST00000467943); upstream_gene_variant(ENST00000493893, ENST00000428707, ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000467943)
SIFT Annotation	tolerated
SIFT Variant Effect	tolerated(ENST00000406520, ENST00000407537, ENST00000403710, ENST00000403184, ENST00000207636, ENST00000361682, ENST00000412786)
PolyPhen Annotation	benign
PolyPhen Variant Effect	benign(ENST00000406520, ENST00000407537, ENST00000403710, ENST00000403184, ENST00000207636, ENST00000361682, ENST00000412786)
rSNP?	No Link in rVarBase
Related Regulatory Elements	N.A.
Chromatin State	N.A.
No. of Marker's Association Results	4 (Positive: 3; Negative: 1; Trend: 0)
Source	Literature

SNP related association results

Normal genetic study related association results (count: 4)

Reference	Phenotype	Statistical Values	Author Comments	Marker's Category
Goenjian, A. K.,2014	B category score	Trait DSM-IV based and DSM-V based: both with P-value=0.28. Trait DSM-IV based and DSM-V based: both with P-value=0.28.	There was no significant association between rs4633C and B c...... There was no significant association between rs4633C and B category score for both scales. More...	Non-significant
Goenjian, A. K.,2014	C category score	DSM-IV based category C (avoidance/numbing) scores: P-value=...... DSM-IV based category C (avoidance/numbing) scores: P-value=0.03, with DSM-5 category C (avoidance) scores: P-value=0.46. More...	There was a significant association of rs4633C with DSM IV b...... There was a significant association of rs4633C with DSM IV based category C (avoidance/numbing) scores, although not with DSM-5 category C (avoidance) scores. More...	Significant
Goenjian, A. K.,2014	D category score	DSM-V based: category D scores (negative alterations in cog...... DSM-V based: category D scores (negative alterations in cognitions and mood): P-value<0.04. More...	There was a significant association between rs4633C and cate...... There was a significant association between rs4633C and category D scores (negative alterations in cognitions and mood). More...	Significant
Goenjian, A. K.,2014	Total PTSD symptom severity score	Trait DSM-IV based and DSM-V based: both with P-value<0.03. Trait DSM-IV based and DSM-V based: both with P-value<0.03.	The COMT SNP allele rs4633C was significantly associated wit...... The COMT SNP allele rs4633C was significantly associated with both DSM-IV and DSM-5 total PTSD severity scores. More...	Significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Association Results (Positive/Negative/Trend)
COMT	catechol-O-methyltransferase	22q11.21	21(9/12/0)

SNPs in LD with rs4633 (count: 3)

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]
rs4680	downstream_gene_variant(ENST00000467943); missense_variant(ENST00000449653, ENST00000403184, ENST00000361682, ENST00000428707, ENST00000207636, ENST00000407537, ENST00000406520, ENST00000403710, ENST00000412786); non_coding_transcript_exon_variant(ENST00000493893); upstream_gene_variant(ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000493893)	17(5/12/0)	0.9947[EUR]

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs165656	rs4633 rs4680	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9843[EUR]
rs165722	rs4633 rs4680	upstream_gene_variant; 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
FBLL1	No	Adipose Subcutaneous	cis	GTEx