SNP Report
| Name | rs2300182 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:34446301 - 34446301(+) | ||
| Variant Seq | A | ||
| Ancestral Allele | T | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.134585 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000241052) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000241052) | ||
| PolyPhen Annotation | possibly_damaging | ||
| PolyPhen Variant Effect | possibly_damaging(ENST00000241052) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Enhancers;Genic enhancers;Transcr. at gene 5' nd 3';Flanking Active TSS;Strong transcription | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.



