PTSDgene database

SNP Report

Basic Info
Name rs73679204 dbSNP Ensembl
Location 8:27476104 - 27476104(+)
Variant Seq C
Ancestral Allele T
Ref Seq T
Minor Allele Frequence 0.0107827
Annotation upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect upstream_gene_variant(ENST00000521921); intron_variant(ENST00000520650, ENST00000523695, ENST00000240132, ENST00000520933, ENST00000407991, ENST00000518712, ENST00000520208, ENST00000524096); NMD_transcript_variant(ENST00000523695); non_coding_transcript_variant(ENST00000520650)
SIFT Annotation deleterious
SIFT Variant Effect deleterious(ENST00000523695, ENST00000520933, ENST00000240132, ENST00000407991)
PolyPhen Annotation probably_damaging
PolyPhen Variant Effect probably_damaging(ENST00000523695, ENST00000520933, ENST00000240132, ENST00000407991)
rSNP? Yes Link in rVarBase
Related Regulatory Elements Chromatin interactive region
Chromatin State Weak transcription;Enhancers
No. of Marker's Association Results 1 (Positive: 1; Negative: 0; Trend: 0)
Source Literature

SNP related association results
Normal genetic study related association results (count: 1)
Reference Phenotype Statistical Values Author Comments Marker's Category
Kimbrel, N. A.,2015 PTSD In the NHB sample, main effect: P-value=0.01487. In the NHB sample, main effect: P-value=0.01487. Nominally significant associations (p<.05) were observed, bu...... Nominally significant associations (p<.05) were observed, but it didn't met multiple-testing threshold. More... Significant
G*E study related association result (count: 1)
Reference Phenotype Environment Statistical Values Author Comments Marker's Category
Kimbrel, N. A.,2015 PTSD Smoking status GxE interactions among NHB participants: P-value=0.1744. GxE interactions among NHB participants: P-value=0.1744. No GxE interactions were statistically significant among NHB...... No GxE interactions were statistically significant among NHB participants. More... Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
CHRNA2 cholinergic receptor, nicotinic alpha 2 8p21 1(1/0/0)

SNPs in LD with rs73679204 (count: 27)
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: 0)

LD-proxies (count: 27)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
RP11-259G18.3 No Adipose Subcutaneous cis GTEx