SNP Report
Basic Info
| Name | rs8192475 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 15:78618888 - 78618888(+) | ||
| Variant Seq | G,T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.014976 | ||
| Annotation | 5_prime_UTR_variant; missense_variant; non_coding_transcript_exon_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
| Variant Effect | 5_prime_UTR_variant(ENST00000559080); missense_variant(ENST00000348639, ENST00000326828, ENST00000559658); non_coding_transcript_exon_variant(ENST00000561128, ENST00000559941); NMD_transcript_variant(ENST00000559658); non_coding_transcript_variant(ENST00000561128, ENST00000559941) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000348639, ENST00000326828, ENST00000559658) | ||
| PolyPhen Annotation | possibly_damaging; probably_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000348639); probably_damaging(ENST00000348639, ENST00000326828, ENST00000559658) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Bivalent Enhancer;Enhancers;Flanking Active TSS;Flanking Bivalent TSS/Enh;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: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| CHRNA3 | cholinergic receptor, nicotinic alpha 3 | 15q24 | 1(0/1/0) |
| CHRNB4 | cholinergic receptor, nicotinic beta 4 | 15q24 | Mapped by Literature SNP, Mapped by LD-proxy, rSNP target |
SNPs in LD with rs8192475 (count: 0)
SNP related eQTL (count: 1)