SNP Report
Basic Info
| Name | rs33980254 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:30265029 - 30265029(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.252396 | ||
| Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant | ||
| Variant Effect | downstream_gene_variant(ENST00000579957, ENST00000577623); intron_variant(ENST00000578090, ENST00000261714); NMD_transcript_variant(ENST00000578090) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000261714) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000261714) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Strong transcription;Flanking Active TSS;Genic enhancers;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: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| SLC6A4 | solute carrier family 6 (neurotransmitter transporter), member 4 | 17q11.2 | 44(13/31/0) |
| BLMH | bleomycin hydrolase | 17q11.2 | Mapped by LD-proxy |
SNPs in LD with rs33980254 (count: 0)
SNP related eQTL (count: 1)