SNP Report
Basic Info
| Name | rs62516748 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 8:42713020 - 42713020(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.0391374 | ||
| Annotation | downstream_gene_variant; intron_variant; non_coding_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000531610, ENST00000534391); intron_variant(ENST00000289957, ENST00000527318); non_coding_transcript_variant(ENST00000527318) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000289957) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000289957) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | n/a | ||
| Chromatin State | Weak transcription;Enhancers;Flanking Active TSS | ||
| 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)  |
|---|---|---|---|
| CHRNB3 | cholinergic receptor, nicotinic beta 3 | 8p11.21 | Mapped by Literature SNP, Mapped by LD-proxy |
SNPs in LD with rs62516748 (count: 0)
SNP related eQTL (count: 1)