PTSDgene database

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)

LD-proxies (count: 2)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
FBLL1 No Adipose Subcutaneous cis GTEx