SNP Report
Basic Info
| Name | rs4648317 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:113460810 - 113460810(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | G | ||
| Ref Seq | G | ||
| Minor Allele Frequence | 0.220048 | ||
| Annotation | intron_variant; non_coding_transcript_variant | ||
| Variant Effect | intron_variant(ENST00000542616, ENST00000540600, ENST00000346454, ENST00000362072); non_coding_transcript_variant(ENST00000540600) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000362072, ENST00000543292, ENST00000538967, ENST00000544518, ENST00000542968, ENST00000346454) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000362072, ENST00000543292, ENST00000538967, ENST00000544518, ENST00000542968, ENST00000346454) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Active TSS;Enhancers;Weak transcription | ||
| No. of Marker's Association Results | 2 (Positive: 1; Negative: 1; Trend: 0) | ||
| Source | Literature | ||
SNP related association results
| Reference | Phenotype | Statistical Values | Author Comments | Marker's Category |
|---|---|---|---|---|
| Nelson, E. C.,2014 | PTSD | P-value=0.018, OR=1.26 P-value=0.018, OR=1.26 | Although the association of this SNP is of considerably lowe...... Although the association of this SNP is of considerably lower magnitude, it is interesting to note. More... | Non-significant |
| Duan, Z.,2015 | PTSD diagnosis | Allele dose analysis model: P-value=0.10; Dominant effect: ...... Allele dose analysis model: P-value=0.10; Dominant effect: P-value=0.31; Recessive effect: P-value=0.04. More... | For the recessive effect, compared with the combined genotyp...... For the recessive effect, compared with the combined genotypes rs4648317 GA/GG, rs4648317, AA genotypes had a significantly decreased PTSD risk. More... | Significant |
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| DRD2 | dopamine receptor D2 | 11q23.2 | 18(11/7/0) |
SNPs in LD with rs4648317 (count: 24)
Literature-origin SNPs (count: 0)
LD-proxies (count: 24)
SNP related eQTL (count: 1)