SNP Report
Basic Info
| Name | rs263249 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 8:130783014 - 130783014(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | C | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.420128 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000377928, ENST00000286355) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000286355, ENST00000377928) | ||
| PolyPhen Annotation | benign; probably_damaging | ||
| PolyPhen Variant Effect | benign(ENST00000286355); probably_damaging(ENST00000377928) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| ADCY8 | adenylate cyclase 8 (brain) | 8q24 | 1(0/0/1) |
SNPs in LD with rs263249 (count: 0)
SNP related eQTL (count: 1)