SNP Report
Basic Info
| Name | rs1799923 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 3:42264802 - 42264802(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.232029 | ||
| Annotation | 5_prime_UTR_variant; upstream_gene_variant | ||
| Variant Effect | 5_prime_UTR_variant(ENST00000334681, ENST00000396169); upstream_gene_variant(ENST00000434608, ENST00000484359, ENST00000631079) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000396169, ENST00000434608, ENST00000334681) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000396169, ENST00000434608, ENST00000334681) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region | ||
| Chromatin State | Bivalent Enhancer;Bivalent/Poised TSS;Flanking Bivalent TSS/Enh;Enhancers;Weak transcription;Flanking Active TSS | ||
| No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Badour, C. L.,2015 | PTSD diagnosis | B=0.77, OR= 2.17; 95% CI=[1.37-3.43], P-value< 0.01, control...... B=0.77, OR= 2.17; 95% CI=[1.37-3.43], P-value< 0.01, controlling for combat exposure and recruitment site: B=0.68, OR = 1.97, P-value= .006, 95% CI: [1.21-3.19], among the subsample of white participants: B=0.88, OR= 2.50, P-value= 0.002, 95% CI: [1.42-4.40]. More... | Specifically, relative to individuals with the CC genotype, ...... Specifically, relative to individuals with the CC genotype, those with the homozygous or heterozygous T allele were estimated to be 2.17 times more likely to have PTSD. This model remained significant when controlling for combat exposure and recruitment site. Among the subsample of White participants, those with the homozygous or heterozygous T allele were 2.50 times more likely to meet criteria for a PTSD diagnosis. More... | Significant |
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| CCK | cholecystokinin | 3p22.1 | 1(1/0/0) |
SNPs in LD with rs1799923 (count: 18)
Literature-origin SNPs (count: 0)
LD-proxies (count: 18)
SNP related eQTL (count: 1)