SNP Report

Basic Info

Name	rs4818 dbSNP Ensembl
Location	22:19963684 - 19963684(+)
Variant Seq	G,T
Ancestral Allele	G
Ref Seq	C
Minor Allele Frequence	0.296925
Annotation	downstream_gene_variant; synonymous_variant; non_coding_transcript_exon_variant; upstream_gene_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect	downstream_gene_variant(ENST00000467943); synonymous_variant(ENST00000406520, ENST00000412786, ENST00000403710, ENST00000361682, ENST00000449653, ENST00000407537, ENST00000207636, ENST00000403184); non_coding_transcript_exon_variant(ENST00000493893); upstream_gene_variant(ENST00000428707, ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000493893)
SIFT Annotation	deleterious
SIFT Variant Effect	deleterious(ENST00000403184, ENST00000361682, ENST00000412786, ENST00000407537, ENST00000207636, ENST00000403710, ENST00000406520)
PolyPhen Annotation	probably_damaging; possibly_damaging
PolyPhen Variant Effect	probably_damaging(ENST00000207636); possibly_damaging(ENST00000403184, ENST00000361682, ENST00000412786, ENST00000407537, ENST00000403710, ENST00000406520)
rSNP?	No Link in rVarBase
Related Regulatory Elements	N.A.
Chromatin State	N.A.
No. of Marker's Association Results	4 (Positive: 0; Negative: 4; 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>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05.	There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More...	Non-significant
Goenjian, A. K.,2014	C category score	Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05.	There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More...	Non-significant
Goenjian, A. K.,2014	D category score	Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05.	There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More...	Non-significant
Goenjian, A. K.,2014	Total PTSD symptom severity score	Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05.	There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More...	Non-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 rs4818 (count: 6)

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]
rs6269	5_prime_UTR_variant(ENST00000403710); upstream_gene_variant(ENST00000493893, ENST00000449653, ENST00000428707, ENST00000585066); intron_variant(ENST00000407537, ENST00000467943, ENST00000207636, ENST00000412786, ENST00000361682, ENST00000403184, ENST00000406520); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000467943)	4(0/4/0)	0.9621[EUR]

LD-proxies (count: 5)

rs_ID	Literature-origin SNPs with LD	Annotation	r²[population]
rs4646317	rs4818 rs6269	downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant	0.8991[EUR]
rs3810595	rs4818 rs6269	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9621[EUR]
rs2239393	rs4818 rs6269	downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant	0.9621[EUR]
rs4646312	rs4818 rs6269	upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.9890[EUR]
rs740601	rs4818 rs6269	downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant	0.9621[EUR]

SNP related eQTL (count: 1)

Gene Symbol	Gene Existed in PTSDgene?	Tissue	Trans/Cis	Source
FBLL1	No	Adipose Subcutaneous	cis	GTEx