SNP Report
| Name | rs28914827 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 17:30222791 - 30222791(+) | ||
| Variant Seq | T | ||
| Ancestral Allele | C | ||
| Ref Seq | C | ||
| Minor Allele Frequence | 0.00678914 | ||
| Annotation | intron_variant | ||
| Variant Effect | intron_variant(ENST00000394821, ENST00000261707, ENST00000401766) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000394821, ENST00000261707, ENST00000401766) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000394821, ENST00000261707, ENST00000401766) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Enhancers;Flanking Active TSS;Active TSS;Weak 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.



